GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Jan 27, 2011)

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:
RCV000053731.7

Allele description [Variation Report for GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3]

GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3

Genes:
  • HTR2A:5-hydroxytryptamine receptor 2A [Gene - OMIM - HGNC]
  • AKAP11:A-kinase anchoring protein 11 [Gene - OMIM - HGNC]
  • ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • ALG5:ALG5 dolichyl-phosphate beta-glucosyltransferase [Gene - OMIM - HGNC]
  • ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
  • AMER2:APC membrane recruitment protein 2 [Gene - OMIM - HGNC]
  • ARHGEF7-AS1:ARHGEF7 antisense RNA 1 [Gene - HGNC]
  • ARHGEF7-AS2:ARHGEF7 antisense RNA 2 [Gene - HGNC]
  • ABCC4:ATP binding cassette subfamily C member 4 [Gene - OMIM - HGNC]
  • ATP11A-AS1:ATP11A antisense RNA 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor [Gene - HGNC]
  • ATP12A:ATPase H+/K+ transporting non-gastric alpha2 subunit [Gene - OMIM - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • ATP8A2:ATPase phospholipid transporting 8A2 [Gene - OMIM - HGNC]
  • LOC109461478:ATXN8 opposite strand (non-protein coding) repeat instability region [Gene]
  • ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
  • BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
  • BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
  • BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]
  • LOC106721785:BRCA2 promoter/silencer region [Gene]
  • C1QTNF9:C1q and TNF related 9 [Gene - OMIM - HGNC]
  • C1QTNF9B:C1q and TNF related 9B [Gene - OMIM - HGNC]
  • CCDC169-SOHLH2:CCDC169-SOHLH2 readthrough [Gene - HGNC]
  • CFAP97D2:CFAP97 domain containing 2 [Gene - HGNC]
  • CLDN10-AS1:CLDN10 antisense RNA 1 [Gene - HGNC]
  • CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
  • CLYBL-AS1:CLYBL antisense RNA 1 [Gene - HGNC]
  • CLYBL-AS2:CLYBL antisense RNA 2 [Gene - HGNC]
  • COL4A2-AS2:COL4A2 antisense 2 [Gene - HGNC]
  • COL4A2-AS1:COL4A2 antisense RNA 1 [Gene - HGNC]
  • COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
  • CPB2-AS1:CPB2 antisense RNA 1 [Gene - HGNC]
  • DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
  • DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
  • DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • DIAPH3-AS1:DIAPH3 antisense RNA 1 [Gene - HGNC]
  • DIAPH3-AS2:DIAPH3 antisense RNA 2 [Gene - HGNC]
  • DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
  • DLEU1-AS1:DLEU1 antisense RNA 1 [Gene - HGNC]
  • DLEU7-AS1:DLEU7 antisense RNA 1 [Gene - HGNC]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • DNAJC3-DT:DNAJC3 divergent transcript [Gene - HGNC]
  • DOCK9-AS1:DOCK9 antisense RNA 1 [Gene - HGNC]
  • DOCK9-DT:DOCK9 divergent transcript [Gene - HGNC]
  • DNAJC15:DnaJ heat shock protein family (Hsp40) member C15 [Gene - OMIM - HGNC]
  • DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
  • ELF1:E74 like ETS transcription factor 1 [Gene - OMIM - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
  • LOC107882129:EDNRB proximal promoter region [Gene]
  • LOC107882127:EDNRB upstream promoter region [Gene]
  • EEF1AKMT1:EEF1A lysine methyltransferase 1 [Gene - OMIM - HGNC]
  • ENOX1-AS2:ENOX1 antisense RNA 2 [Gene - HGNC]
  • ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
  • FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
  • F10-AS1:F10 antisense RNA 1 [Gene - HGNC]
  • FAM155A-IT1:FAM155A intronic transcript 1 [Gene - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • FGF14-AS1:FGF14 antisense RNA 1 [Gene - HGNC]
  • FGF14-AS2:FGF14 antisense RNA 2 [Gene - HGNC]
  • FGF14-IT1:FGF14 intronic transcript 1 [Gene - HGNC]
  • FKSG29:FKSG29 [Gene]
  • LOC111562370:FOXA motif-containing MPRA enhancer 169 [Gene]
  • LOC111429622:FOXA motif-containing MPRA enhancer 219 [Gene]
  • FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]
  • FREM2-AS1:FREM2 antisense RNA 1 [Gene - HGNC]
  • FRY-AS1:FRY antisense RNA 1 [Gene - HGNC]
  • FRY:FRY microtubule binding protein [Gene - OMIM - HGNC]
  • GPR12:G protein-coupled receptor 12 [Gene - OMIM - HGNC]
  • GPR180:G protein-coupled receptor 180 [Gene - OMIM - HGNC]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • GRK1:G protein-coupled receptor kinase 1 [Gene - OMIM - HGNC]
  • GAS6-AS1:GAS6 antisense RNA 1 [Gene - HGNC]
  • GAS6-DT:GAS6 divergent transcript [Gene - HGNC]
  • GPALPP1:GPALPP motifs containing 1 [Gene - HGNC]
  • GPC5-AS1:GPC5 antisense RNA 1 [Gene - HGNC]
  • GPC5-AS2:GPC5 antisense RNA 2 [Gene - HGNC]
  • GPC6-AS1:GPC6 antisense RNA 1 [Gene - HGNC]
  • GPC6-AS2:GPC6 antisense RNA 2 [Gene - HGNC]
  • GRTP1-AS1:GRTP1 antisense RNA 1 [Gene - HGNC]
  • GSX1:GS homeobox 1 [Gene - OMIM - HGNC]
  • LOC111365190:HNF1 motif-containing MPRA enhancer 52 [Gene]
  • HTR2A-AS1:HTR2A antisense RNA 1 [Gene - HGNC]
  • INTS6-AS1:INTS6 antisense RNA 1 [Gene - HGNC]
  • KLF12:Kruppel like factor 12 [Gene - OMIM - HGNC]
  • KLF5:Kruppel like factor 5 [Gene - OMIM - HGNC]
  • LHFPL6:LHFPL tetraspan subfamily member 6 [Gene - OMIM - HGNC]
  • LMO7:LIM domain 7 [Gene - OMIM - HGNC]
  • LOC108281153:LINC00400 intron CAGE-defined mid-level expression enhancer [Gene]
  • LOC108318668:LINC00598 intron ENCODE-defined enhancer [Gene]
  • LMO7-AS1:LMO7 antisense RNA 1 [Gene - HGNC]
  • LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
  • LMO7DN-IT1:LMO7DN intronic transcript 1 [Gene - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • MCF2L-AS1:MCF2L antisense RNA 1 [Gene - HGNC]
  • MED4-AS1:MED4 antisense RNA 1 [Gene - HGNC]
  • MIR4500HG:MIR4500 host gene [Gene - HGNC]
  • MTUS2-AS1:MTUS2 antisense RNA 1 [Gene - HGNC]
  • MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
  • MYCBP2-AS1:MYCBP2 antisense RNA 1 [Gene - HGNC]
  • MYO16-AS1:MYO16 antisense RNA 1 [Gene - HGNC]
  • NAA16:N-alpha-acetyltransferase 16, NatA auxiliary subunit [Gene - HGNC]
  • N4BP2L2-IT2:N4BPL2 intronic transcript 2 [Gene - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • NALCN-AS1:NALCN antisense RNA 1 [Gene - HGNC]
  • NDFIP2-AS1:NDFIP2 antisense RNA 1 [Gene - HGNC]
  • N4BP2L1:NEDD4 binding protein 2 like 1 [Gene - HGNC]
  • N4BP2L2:NEDD4 binding protein 2 like 2 [Gene - OMIM - HGNC]
  • NHLRC3:NHL repeat containing 3 [Gene - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
  • OBI1-AS1:OBI1 antisense RNA 1 [Gene - HGNC]
  • OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • PAN3-AS1:PAN3 antisense RNA 1 [Gene - HGNC]
  • PCCA-AS1:PCCA antisense RNA 1 [Gene - HGNC]
  • PCCA-DT:PCCA divergent transcript [Gene - HGNC]
  • PCDH9-AS2:PCDH9 antisense RNA 2 [Gene - HGNC]
  • PCDH9-AS3:PCDH9 antisense RNA 3 [Gene - HGNC]
  • PCDH9-AS4:PCDH9 antisense RNA 4 [Gene - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • PDS5B:PDS5 cohesin associated factor B [Gene - OMIM - HGNC]
  • PLUT:PDX1 associated lncRNA, upregulator of transcription [Gene - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
  • PCOTH:Pro-X-Gly collagen triple helix like repeat containing [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • RASL11A:RAS like family 11 member A [Gene - OMIM - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • RB1-DT:RB1 divergent transcript [Gene - HGNC]
  • RBM26-AS1:RBM26 antisense RNA 1 [Gene - HGNC]
  • RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
  • RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
  • RBM26:RNA binding motif protein 26 [Gene - HGNC]
  • POLR1D:RNA polymerase I and III subunit D [Gene - OMIM - HGNC]
  • RNASEH2B-AS1:RNASEH2B antisense RNA 1 [Gene - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SACS-AS1:SACS antisense RNA 1 [Gene - HGNC]
  • SCEL-AS1:SCEL antisense RNA 1 [Gene - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SETDB2-PHF11:SETDB2-PHF11 readthrough [Gene]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
  • SLC25A30-AS1:SLC25A30 antisense RNA 1 [Gene - HGNC]
  • SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
  • SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
  • SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
  • SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
  • SMIM2-AS1:SMIM2 antisense RNA 1 [Gene - HGNC]
  • SMIM2-IT1:SMIM2 intronic transcript 1 [Gene - HGNC]
  • SOX1-OT:SOX1 overlapping transcript [Gene - HGNC]
  • SOX21-AS1:SOX21 antisense divergent transcript 1 [Gene - HGNC]
  • SPART-AS1:SPART antisense RNA 1 [Gene - HGNC]
  • SPATA13-AS1:SPATA13 antisense RNA 1 [Gene - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • SUPT20H:SPT20 homolog, SAGA complex component [Gene - OMIM - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SOX21:SRY-box transcription factor 21 [Gene - OMIM - HGNC]
  • STARD13-AS:STARD13 antisense RNA [Gene - HGNC]
  • STK24-AS1:STK24 antisense RNA 1 [Gene - HGNC]
  • SUCLA2-AS1:SUCLA2 antisense RNA 1 [Gene - HGNC]
  • LOC108175343:SUGT1P3 overlapping homotypic cluster of transcription factor binding sites enhancer [Gene]
  • LOC112163649:Sharpr-MPRA regulatory region 10151 [Gene]
  • LOC112163652:Sharpr-MPRA regulatory region 10155 [Gene]
  • LOC112163643:Sharpr-MPRA regulatory region 11013 [Gene]
  • LOC112163669:Sharpr-MPRA regulatory region 11269 [Gene]
  • LOC112163671:Sharpr-MPRA regulatory region 1150 [Gene]
  • LOC112163650:Sharpr-MPRA regulatory region 11800 [Gene]
  • LOC112163638:Sharpr-MPRA regulatory region 12105 [Gene]
  • LOC112163644:Sharpr-MPRA regulatory region 12287 [Gene]
  • LOC112163658:Sharpr-MPRA regulatory region 12652 [Gene]
  • LOC112163666:Sharpr-MPRA regulatory region 1301 [Gene]
  • LOC112163640:Sharpr-MPRA regulatory region 13792 [Gene]
  • LOC113939939:Sharpr-MPRA regulatory region 13963 [Gene]
  • LOC112163674:Sharpr-MPRA regulatory region 14763 [Gene]
  • LOC112163667:Sharpr-MPRA regulatory region 14942 [Gene]
  • LOC113939938:Sharpr-MPRA regulatory region 1517 [Gene]
  • LOC112163653:Sharpr-MPRA regulatory region 1962 [Gene]
  • LOC112163670:Sharpr-MPRA regulatory region 2285 [Gene]
  • LOC112163676:Sharpr-MPRA regulatory region 2339 [Gene]
  • LOC112163663:Sharpr-MPRA regulatory region 2352 [Gene]
  • LOC112163668:Sharpr-MPRA regulatory region 2769 [Gene]
  • LOC112163672:Sharpr-MPRA regulatory region 2923 [Gene]
  • LOC112163654:Sharpr-MPRA regulatory region 3304 [Gene]
  • LOC112163646:Sharpr-MPRA regulatory region 3704 [Gene]
  • LOC112163662:Sharpr-MPRA regulatory region 3717 [Gene]
  • LOC112163657:Sharpr-MPRA regulatory region 4080 [Gene]
  • LOC112163665:Sharpr-MPRA regulatory region 4317 [Gene]
  • LOC112163656:Sharpr-MPRA regulatory region 5068 [Gene]
  • LOC112163655:Sharpr-MPRA regulatory region 5265 [Gene]
  • LOC112163675:Sharpr-MPRA regulatory region 5370 [Gene]
  • LOC112163637:Sharpr-MPRA regulatory region 5963 [Gene]
  • LOC112163647:Sharpr-MPRA regulatory region 6807 [Gene]
  • LOC112163664:Sharpr-MPRA regulatory region 8029 [Gene]
  • LOC112163645:Sharpr-MPRA regulatory region 8271 [Gene]
  • LOC112163648:Sharpr-MPRA regulatory region 8838 [Gene]
  • LOC112163639:Sharpr-MPRA regulatory region 9290 [Gene]
  • LOC112163651:Sharpr-MPRA regulatory region 9463 [Gene]
  • SAP18:Sin3A associated protein 18 [Gene - OMIM - HGNC]
  • STARD13:StAR related lipid transfer domain containing 13 [Gene - OMIM - HGNC]
  • TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
  • TGDS:TDP-glucose 4,6-dehydratase [Gene - OMIM - HGNC]
  • TEX26-AS1:TEX26 antisense RNA 1 [Gene - HGNC]
  • TNFRSF19:TNF receptor superfamily member 19 [Gene - OMIM - HGNC]
  • TNFSF11:TNF superfamily member 11 [Gene - OMIM - HGNC]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • TPT1-AS1:TPT1 antisense RNA 1 [Gene - HGNC]
  • TSC22D1:TSC22 domain family member 1 [Gene - OMIM - HGNC]
  • TSC22D1-AS1:TSC22D1 antisense RNA 1 [Gene - HGNC]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UBAC2-AS1:UBAC2 antisense RNA 1 [Gene - HGNC]
  • UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • USP12-AS1:USP12 antisense RNA 1 [Gene - HGNC]
  • USP12-AS2:USP12 antisense RNA 2 (head to head) [Gene - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • LOC110121336:VISTA enhancer hs1246 [Gene]
  • LOC110120827:VISTA enhancer hs126 [Gene]
  • LOC110120828:VISTA enhancer hs129 [Gene]
  • LOC110120829:VISTA enhancer hs131 [Gene]
  • LOC110121346:VISTA enhancer hs1330 [Gene]
  • LOC110121347:VISTA enhancer hs1333 [Gene]
  • LOC110120830:VISTA enhancer hs135 [Gene]
  • LOC110120831:VISTA enhancer hs137 [Gene]
  • LOC110120832:VISTA enhancer hs138 [Gene]
  • LOC110121359:VISTA enhancer hs1393 [Gene]
  • LOC110121360:VISTA enhancer hs1394 [Gene]
  • LOC110120833:VISTA enhancer hs141 [Gene]
  • LOC110120834:VISTA enhancer hs142 [Gene]
  • LOC110121375:VISTA enhancer hs1471 [Gene]
  • LOC110121384:VISTA enhancer hs1515 [Gene]
  • LOC110121400:VISTA enhancer hs1568 [Gene]
  • LOC110120843:VISTA enhancer hs188 [Gene]
  • LOC110121473:VISTA enhancer hs1991 [Gene]
  • LOC110120881:VISTA enhancer hs488 [Gene]
  • LOC110120889:VISTA enhancer hs532 [Gene]
  • LOC110120891:VISTA enhancer hs540 [Gene]
  • LOC110120897:VISTA enhancer hs575 [Gene]
  • LOC110120909:VISTA enhancer hs619 [Gene]
  • LOC110120930:VISTA enhancer hs759 [Gene]
  • LOC110120933:VISTA enhancer hs796 [Gene]
  • LOC110120945:VISTA enhancer hs881 [Gene]
  • LOC110120946:VISTA enhancer hs882 [Gene]
  • LOC110120950:VISTA enhancer hs915 [Gene]
  • LOC110120855:VISTA enhancers hs189 and hs341 [Gene]
  • VWA8-AS1:VWA8 antisense RNA 1 (head to head) [Gene - HGNC]
  • WASF3:WASP family member 3 [Gene - OMIM - HGNC]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • WBP4:WW domain binding protein 4 [Gene - OMIM - HGNC]
  • LOC110008580:Zic family member 2 polyalanine repeat instability region [Gene]
  • ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
  • ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • ALOX5AP:arachidonate 5-lipoxygenase activating protein [Gene - OMIM - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - HGNC]
  • B3GLCT:beta 3-glucosyltransferase [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CPB2:carboxypeptidase B2 [Gene - OMIM - HGNC]
  • CSNK1A1L:casein kinase 1 alpha 1 like [Gene - HGNC]
  • CDX2:caudal type homeobox 2 [Gene - OMIM - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CENPJ:centromere protein J [Gene - OMIM - HGNC]
  • CBY2:chibby family member 2 [Gene - OMIM - HGNC]
  • CNMD:chondromodulin [Gene - OMIM - HGNC]
  • C13orf42:chromosome 13 open reading frame 42 [Gene - HGNC]
  • C13orf46:chromosome 13 open reading frame 46 [Gene - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • CLYBL:citrate lyase beta like [Gene - OMIM - HGNC]
  • CLDN10:claudin 10 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • CCDC122:coiled-coil domain containing 122 [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • CCDC169:coiled-coil domain containing 169 [Gene - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • LOC101928764:coiled-coil domain-containing protein 144B [Gene]
  • LOC101928841:collagen alpha-1(II) chain-like [Gene]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • COG3:component of oligomeric golgi complex 3 [Gene - OMIM - HGNC]
  • COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
  • LOC106783494:conserved acetylation island sequence 9 enhancer [Gene]
  • CRYL1:crystallin lambda 1 [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CCNA1:cyclin A1 [Gene - OMIM - HGNC]
  • CDK8:cyclin dependent kinase 8 [Gene - OMIM - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - HGNC]
  • CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
  • DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
  • DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
  • DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
  • DGKH:diacylglycerol kinase eta [Gene - OMIM - HGNC]
  • DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
  • DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
  • DCLK1:doublecortin like kinase 1 [Gene - OMIM - HGNC]
  • ENOX1:ecto-NOX disulfide-thiol exchanger 1 [Gene - OMIM - HGNC]
  • EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • EPSTI1:epithelial stromal interaction 1 [Gene - OMIM - HGNC]
  • ESD:esterase D [Gene - OMIM - HGNC]
  • EXOSC8:exosome component 8 [Gene - OMIM - HGNC]
  • XPO4:exportin 4 [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FAM155A:family with sequence similarity 155 member A [Gene - HGNC]
  • FAM216B:family with sequence similarity 216 member B [Gene - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • FGF9:fibroblast growth factor 9 [Gene - OMIM - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • FLT1:fms related tyrosine kinase 1 [Gene - OMIM - HGNC]
  • FLT3:fms related tyrosine kinase 3 [Gene - OMIM - HGNC]
  • FOXO1:forkhead box O1 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • GJA3:gap junction protein alpha 3 [Gene - OMIM - HGNC]
  • GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]
  • GJB6:gap junction protein beta 6 [Gene - OMIM - HGNC]
  • GTF2F2:general transcription factor IIF subunit 2 [Gene - OMIM - HGNC]
  • GTF3A:general transcription factor IIIA [Gene - OMIM - HGNC]
  • ERICH6B:glutamate rich 6B [Gene - HGNC]
  • GPC5:glypican 5 [Gene - OMIM - HGNC]
  • GPC6:glypican 6 [Gene - OMIM - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LOC107992391:heart enhancer 14 [Gene]
  • HSPH1:heat shock protein family H (Hsp110) member 1 [Gene - OMIM - HGNC]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • HMGB1:high mobility group box 1 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • IL17D:interleukin 17D [Gene - OMIM - HGNC]
  • IFT88:intraflagellar transport 88 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • KATNAL1:katanin catalytic subunit A1 like 1 [Gene - OMIM - HGNC]
  • KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
  • KBTBD6:kelch repeat and BTB domain containing 6 [Gene - OMIM - HGNC]
  • KBTBD7:kelch repeat and BTB domain containing 7 [Gene - OMIM - HGNC]
  • LOC647264:keratin-associated protein 21-1 [Gene]
  • KL:klotho [Gene - OMIM - HGNC]
  • LACC1:laccase domain containing 1 [Gene - OMIM - HGNC]
  • LATS2:large tumor suppressor kinase 2 [Gene - OMIM - HGNC]
  • LRRC63:leucine rich repeat containing 63 [Gene - HGNC]
  • LRCH1:leucine rich repeats and calponin homology domain containing 1 [Gene - OMIM - HGNC]
  • LNX2:ligand of numb-protein X 2 [Gene - OMIM - HGNC]
  • LINC01038:long intergenic non-protein coding RNA 1038 [Gene - HGNC]
  • LINC01039:long intergenic non-protein coding RNA 1039 [Gene - HGNC]
  • LINC01040:long intergenic non-protein coding RNA 1040 [Gene - HGNC]
  • LINC01043:long intergenic non-protein coding RNA 1043 [Gene - HGNC]
  • LINC01044:long intergenic non-protein coding RNA 1044 [Gene - HGNC]
  • LINC01046:long intergenic non-protein coding RNA 1046 [Gene - HGNC]
  • LINC01047:long intergenic non-protein coding RNA 1047 [Gene - HGNC]
  • LINC01048:long intergenic non-protein coding RNA 1048 [Gene - HGNC]
  • LINC01049:long intergenic non-protein coding RNA 1049 [Gene - HGNC]
  • LINC01050:long intergenic non-protein coding RNA 1050 [Gene - HGNC]
  • LINC01052:long intergenic non-protein coding RNA 1052 [Gene - HGNC]
  • LINC01053:long intergenic non-protein coding RNA 1053 [Gene - HGNC]
  • LINC01055:long intergenic non-protein coding RNA 1055 [Gene - HGNC]
  • LINC01058:long intergenic non-protein coding RNA 1058 [Gene - HGNC]
  • LINC01065:long intergenic non-protein coding RNA 1065 [Gene - HGNC]
  • LINC01068:long intergenic non-protein coding RNA 1068 [Gene - HGNC]
  • LINC01069:long intergenic non-protein coding RNA 1069 [Gene - HGNC]
  • LINC01070:long intergenic non-protein coding RNA 1070 [Gene - HGNC]
  • LINC01072:long intergenic non-protein coding RNA 1072 [Gene - HGNC]
  • LINC01074:long intergenic non-protein coding RNA 1074 [Gene - HGNC]
  • LINC01075:long intergenic non-protein coding RNA 1075 [Gene - HGNC]
  • LINC01078:long intergenic non-protein coding RNA 1078 [Gene - HGNC]
  • LINC01080:long intergenic non-protein coding RNA 1080 [Gene - OMIM - HGNC]
  • LINC01198:long intergenic non-protein coding RNA 1198 [Gene - HGNC]
  • LINC01232:long intergenic non-protein coding RNA 1232 [Gene - HGNC]
  • LINC01309:long intergenic non-protein coding RNA 1309 [Gene - HGNC]
  • LINC01442:long intergenic non-protein coding RNA 1442 [Gene - HGNC]
  • LINC02333:long intergenic non-protein coding RNA 2333 [Gene - HGNC]
  • LINC02336:long intergenic non-protein coding RNA 2336 [Gene - HGNC]
  • LINC02337:long intergenic non-protein coding RNA 2337 [Gene - HGNC]
  • LINC02338:long intergenic non-protein coding RNA 2338 [Gene - HGNC]
  • LINC02339:long intergenic non-protein coding RNA 2339 [Gene - HGNC]
  • LINC02340:long intergenic non-protein coding RNA 2340 [Gene - HGNC]
  • LINC02341:long intergenic non-protein coding RNA 2341 [Gene - HGNC]
  • LINC02343:long intergenic non-protein coding RNA 2343 [Gene - HGNC]
  • LINC02344:long intergenic non-protein coding RNA 2344 [Gene - HGNC]
  • LINC00297:long intergenic non-protein coding RNA 297 [Gene - HGNC]
  • LINC00327:long intergenic non-protein coding RNA 327 [Gene - HGNC]
  • LINC00330:long intergenic non-protein coding RNA 330 [Gene - HGNC]
  • LINC00331:long intergenic non-protein coding RNA 331 [Gene - HGNC]
  • LINC00332:long intergenic non-protein coding RNA 332 [Gene - HGNC]
  • LINC00333:long intergenic non-protein coding RNA 333 [Gene - HGNC]
  • LINC00343:long intergenic non-protein coding RNA 343 [Gene - HGNC]
  • LINC00345:long intergenic non-protein coding RNA 345 [Gene - HGNC]
  • LINC00346:long intergenic non-protein coding RNA 346 [Gene - HGNC]
  • LINC00347:long intergenic non-protein coding RNA 347 [Gene - HGNC]
  • LINC00348:long intergenic non-protein coding RNA 348 [Gene - HGNC]
  • LINC00351:long intergenic non-protein coding RNA 351 [Gene - HGNC]
  • LINC00353:long intergenic non-protein coding RNA 353 [Gene - HGNC]
  • LINC00354:long intergenic non-protein coding RNA 354 [Gene - HGNC]
  • LINC00355:long intergenic non-protein coding RNA 355 [Gene - HGNC]
  • LINC00358:long intergenic non-protein coding RNA 358 [Gene - HGNC]
  • LINC00359:long intergenic non-protein coding RNA 359 [Gene - HGNC]
  • LINC00363:long intergenic non-protein coding RNA 363 [Gene - HGNC]
  • LINC00364:long intergenic non-protein coding RNA 364 [Gene - HGNC]
  • LINC00365:long intergenic non-protein coding RNA 365 [Gene - HGNC]
  • LINC00366:long intergenic non-protein coding RNA 366 [Gene - HGNC]
  • LINC00367:long intergenic non-protein coding RNA 367 [Gene - HGNC]
  • LINC00368:long intergenic non-protein coding RNA 368 [Gene - HGNC]
  • LINC00370:long intergenic non-protein coding RNA 370 [Gene - HGNC]
  • LINC00373:long intergenic non-protein coding RNA 373 [Gene - HGNC]
  • LINC00374:long intergenic non-protein coding RNA 374 [Gene - HGNC]
  • LINC00375:long intergenic non-protein coding RNA 375 [Gene - HGNC]
  • LINC00376:long intergenic non-protein coding RNA 376 [Gene - HGNC]
  • LINC00377:long intergenic non-protein coding RNA 377 [Gene - HGNC]
  • LINC00378:long intergenic non-protein coding RNA 378 [Gene - HGNC]
  • LINC00379:long intergenic non-protein coding RNA 379 [Gene - HGNC]
  • LINC00380:long intergenic non-protein coding RNA 380 [Gene - HGNC]
  • LINC00381:long intergenic non-protein coding RNA 381 [Gene - HGNC]
  • LINC00382:long intergenic non-protein coding RNA 382 [Gene - HGNC]
  • LINC00383:long intergenic non-protein coding RNA 383 [Gene - HGNC]
  • LINC00384:long intergenic non-protein coding RNA 384 [Gene - HGNC]
  • LINC00385:long intergenic non-protein coding RNA 385 [Gene - HGNC]
  • LINC00390:long intergenic non-protein coding RNA 390 [Gene - HGNC]
  • LINC00392:long intergenic non-protein coding RNA 392 [Gene - HGNC]
  • LINC00393:long intergenic non-protein coding RNA 393 [Gene - HGNC]
  • LINC00395:long intergenic non-protein coding RNA 395 [Gene - HGNC]
  • LINC00396:long intergenic non-protein coding RNA 396 [Gene - HGNC]
  • LINC00397:long intergenic non-protein coding RNA 397 [Gene - HGNC]
  • LINC00398:long intergenic non-protein coding RNA 398 [Gene - HGNC]
  • LINC00399:long intergenic non-protein coding RNA 399 [Gene - HGNC]
  • LINC00400:long intergenic non-protein coding RNA 400 [Gene - HGNC]
  • LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
  • LINC00407:long intergenic non-protein coding RNA 407 [Gene - HGNC]
  • LINC00410:long intergenic non-protein coding RNA 410 [Gene - HGNC]
  • LINC00411:long intergenic non-protein coding RNA 411 [Gene - HGNC]
  • LINC00412:long intergenic non-protein coding RNA 412 [Gene - HGNC]
  • LINC00415:long intergenic non-protein coding RNA 415 [Gene - HGNC]
  • LINC00423:long intergenic non-protein coding RNA 423 [Gene - HGNC]
  • LINC00424:long intergenic non-protein coding RNA 424 [Gene - HGNC]
  • LINC00426:long intergenic non-protein coding RNA 426 [Gene - HGNC]
  • LINC00428:long intergenic non-protein coding RNA 428 [Gene - HGNC]
  • LINC00430:long intergenic non-protein coding RNA 430 [Gene - HGNC]
  • LINC00431:long intergenic non-protein coding RNA 431 [Gene - HGNC]
  • LINC00433:long intergenic non-protein coding RNA 433 [Gene - HGNC]
  • LINC00434:long intergenic non-protein coding RNA 434 [Gene - HGNC]
  • LINC00437:long intergenic non-protein coding RNA 437 [Gene - HGNC]
  • LINC00440:long intergenic non-protein coding RNA 440 [Gene - HGNC]
  • LINC00443:long intergenic non-protein coding RNA 443 [Gene - HGNC]
  • LINC00444:long intergenic non-protein coding RNA 444 [Gene - HGNC]
  • LINC00445:long intergenic non-protein coding RNA 445 [Gene - HGNC]
  • LINC00446:long intergenic non-protein coding RNA 446 [Gene - HGNC]
  • LINC00448:long intergenic non-protein coding RNA 448 [Gene - HGNC]
  • LINC00449:long intergenic non-protein coding RNA 449 [Gene - HGNC]
  • LINC00452:long intergenic non-protein coding RNA 452 [Gene - HGNC]
  • LINC00454:long intergenic non-protein coding RNA 454 [Gene - HGNC]
  • LINC00456:long intergenic non-protein coding RNA 456 [Gene - HGNC]
  • LINC00457:long intergenic non-protein coding RNA 457 [Gene - HGNC]
  • LINC00458:long intergenic non-protein coding RNA 458 [Gene - HGNC]
  • LINC00459:long intergenic non-protein coding RNA 459 [Gene - HGNC]
  • LINC00460:long intergenic non-protein coding RNA 460 [Gene - HGNC]
  • LINC00462:long intergenic non-protein coding RNA 462 [Gene - HGNC]
  • LINC00463:long intergenic non-protein coding RNA 463 [Gene - HGNC]
  • LINC00539:long intergenic non-protein coding RNA 539 [Gene - HGNC]
  • LINC00540:long intergenic non-protein coding RNA 540 [Gene - HGNC]
  • LINC00543:long intergenic non-protein coding RNA 543 [Gene - HGNC]
  • LINC00544:long intergenic non-protein coding RNA 544 [Gene - HGNC]
  • LINC00545:long intergenic non-protein coding RNA 545 [Gene - HGNC]
  • LINC00547:long intergenic non-protein coding RNA 547 [Gene - HGNC]
  • LINC00548:long intergenic non-protein coding RNA 548 [Gene - HGNC]
  • LINC00550:long intergenic non-protein coding RNA 550 [Gene - HGNC]
  • LINC00551:long intergenic non-protein coding RNA 551 [Gene - HGNC]
  • LINC00552:long intergenic non-protein coding RNA 552 [Gene - HGNC]
  • LINC00554:long intergenic non-protein coding RNA 554 [Gene - HGNC]
  • LINC00557:long intergenic non-protein coding RNA 557 [Gene - HGNC]
  • LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
  • LINC00559:long intergenic non-protein coding RNA 559 [Gene - HGNC]
  • LINC00560:long intergenic non-protein coding RNA 560 [Gene - HGNC]
  • LINC00561:long intergenic non-protein coding RNA 561 [Gene - HGNC]
  • LINC00562:long intergenic non-protein coding RNA 562 [Gene - HGNC]
  • LINC00563:long intergenic non-protein coding RNA 563 [Gene - HGNC]
  • LINC00564:long intergenic non-protein coding RNA 564 [Gene - HGNC]
  • LINC00565:long intergenic non-protein coding RNA 565 [Gene - HGNC]
  • LINC00566:long intergenic non-protein coding RNA 566 [Gene - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LINC00571:long intergenic non-protein coding RNA 571 [Gene - HGNC]
  • LINC00572:long intergenic non-protein coding RNA 572 [Gene - HGNC]
  • LINC00598:long intergenic non-protein coding RNA 598 [Gene - HGNC]
  • LINC00621:long intergenic non-protein coding RNA 621 [Gene - HGNC]
  • LINC00676:long intergenic non-protein coding RNA 676 [Gene - HGNC]
  • LCP1:lymphocyte cytosolic protein 1 [Gene - OMIM - HGNC]
  • LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • LOC109580097:mab-21 like 1 repeat instability region [Gene]
  • MAB21L1:mab-21 like 1 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • LOC107457599:meiotic recombination hotspot P [Gene]
  • MEDAG:mesenteric estrogen dependent adipogenesis [Gene - HGNC]
  • METTL21C:methyltransferase like 21C [Gene - OMIM - HGNC]
  • MIR17HG:miR-17-92a-1 cluster host gene [Gene - OMIM - HGNC]
  • MIR1267:microRNA 1267 [Gene - HGNC]
  • MIR1297:microRNA 1297 [Gene - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MIR17:microRNA 17 [Gene - OMIM - HGNC]
  • MIR18A:microRNA 18a [Gene - OMIM - HGNC]
  • MIR19A:microRNA 19a [Gene - OMIM - HGNC]
  • MIR19B1:microRNA 19b-1 [Gene - OMIM - HGNC]
  • MIR20A:microRNA 20a [Gene - OMIM - HGNC]
  • MIR2276:microRNA 2276 [Gene - HGNC]
  • MIR2681:microRNA 2681 [Gene - HGNC]
  • MIR3168:microRNA 3168 [Gene - HGNC]
  • MIR3169:microRNA 3169 [Gene - HGNC]
  • MIR3170:microRNA 3170 [Gene - HGNC]
  • MIR320D1:microRNA 320d-1 [Gene - HGNC]
  • MIR3613:microRNA 3613 [Gene - HGNC]
  • MIR3665:microRNA 3665 [Gene - HGNC]
  • MIR4305:microRNA 4305 [Gene - HGNC]
  • MIR4306:microRNA 4306 [Gene - HGNC]
  • MIR4499:microRNA 4499 [Gene - HGNC]
  • MIR4500:microRNA 4500 [Gene - HGNC]
  • MIR4501:microRNA 4501 [Gene - HGNC]
  • MIR4502:microRNA 4502 [Gene - HGNC]
  • MIR4703:microRNA 4703 [Gene - HGNC]
  • MIR4704:microRNA 4704 [Gene - HGNC]
  • MIR4705:microRNA 4705 [Gene - HGNC]
  • MIR5006:microRNA 5006 [Gene - HGNC]
  • MIR5007:microRNA 5007 [Gene - HGNC]
  • MIR548AR:microRNA 548ar [Gene - HGNC]
  • MIR548AS:microRNA 548as [Gene - HGNC]
  • MIR548X2:microRNA 548x-2 [Gene - HGNC]
  • MIR5693:microRNA 5693 [Gene - HGNC]
  • MIR621:microRNA 621 [Gene - HGNC]
  • MIR622:microRNA 622 [Gene - HGNC]
  • MIR623:microRNA 623 [Gene - HGNC]
  • MIR759:microRNA 759 [Gene - HGNC]
  • MIR8073:microRNA 8073 [Gene - HGNC]
  • MIR8075:microRNA 8075 [Gene - HGNC]
  • MIR8079:microRNA 8079 [Gene - HGNC]
  • MIR92A1:microRNA 92a-1 [Gene - OMIM - HGNC]
  • MTUS2:microtubule associated scaffold protein 2 [Gene - HGNC]
  • MICU2:mitochondrial calcium uptake 2 [Gene - OMIM - HGNC]
  • MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]
  • MRPL57:mitochondrial ribosomal protein L57 [Gene - OMIM - HGNC]
  • MRPS31:mitochondrial ribosomal protein S31 [Gene - OMIM - HGNC]
  • MTRF1:mitochondrial translation release factor 1 [Gene - OMIM - HGNC]
  • MTIF3:mitochondrial translational initiation factor 3 [Gene - HGNC]
  • MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • MTMR6:myotubularin related protein 6 [Gene - OMIM - HGNC]
  • NBEA:neurobeachin [Gene - OMIM - HGNC]
  • NRAD1:non-coding RNA in the aldehyde dehydrogenase 1A pathway [Gene - HGNC]
  • NUFIP1:nuclear FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • NUP58:nucleoporin 58 [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
  • PDX1:pancreatic and duodenal homeobox 1 [Gene - OMIM - HGNC]
  • POSTN:periostin [Gene - OMIM - HGNC]
  • PABPC3:poly(A) binding protein cytoplasmic 3 [Gene - OMIM - HGNC]
  • PAN3:poly(A) specific ribonuclease subunit PAN3 [Gene - OMIM - HGNC]
  • PARP4:poly(ADP-ribose) polymerase family member 4 [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
  • KCTD4:potassium channel tetramerization domain containing 4 [Gene - HGNC]
  • PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
  • PROSER1:proline and serine rich 1 [Gene - HGNC]
  • PRR20A:proline rich 20A [Gene - HGNC]
  • PRR20B:proline rich 20B [Gene - HGNC]
  • PRR20C:proline rich 20C [Gene - HGNC]
  • PRR20D:proline rich 20D [Gene - HGNC]
  • PRR20E:proline rich 20E [Gene - HGNC]
  • PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
  • POMP:proteasome maturation protein [Gene - OMIM - HGNC]
  • POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
  • PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
  • PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
  • PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
  • LOC100129307:putative UPF0607 protein ENSP00000383144 [Gene]
  • RGCC:regulator of cell cycle [Gene - OMIM - HGNC]
  • RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]
  • RXFP2:relaxin family peptide receptor 2 [Gene - OMIM - HGNC]
  • RFC3:replication factor C subunit 3 [Gene - OMIM - HGNC]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • RPL21:ribosomal protein L21 [Gene - OMIM - HGNC]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • RNF17:ring finger protein 17 [Gene - OMIM - HGNC]
  • RNF6:ring finger protein 6 [Gene - OMIM - HGNC]
  • RUBCNL:rubicon like autophagy enhancer [Gene - HGNC]
  • SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
  • SGCG:sarcoglycan gamma [Gene - OMIM - HGNC]
  • SCEL:sciellin [Gene - OMIM - HGNC]
  • SERTM1:serine rich and transmembrane domain containing 1 [Gene - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SHISA2:shisa family member 2 [Gene - OMIM - HGNC]
  • SIAH3:siah E3 ubiquitin protein ligase family member 3 [Gene - OMIM - HGNC]
  • SMIM2:small integral membrane protein 2 [Gene - HGNC]
  • SNORD102:small nucleolar RNA, C/D box 102 [Gene - HGNC]
  • SNORD13G:small nucleolar RNA, C/D box 13G [Gene - HGNC]
  • SNORD31B:small nucleolar RNA, C/D box 31B [Gene - HGNC]
  • SNORA107:small nucleolar RNA, H/ACA box 107 [Gene - HGNC]
  • SNORA27:small nucleolar RNA, H/ACA box 27 [Gene - HGNC]
  • SNORA31:small nucleolar RNA, H/ACA box 31 [Gene - HGNC]
  • SNORA31B:small nucleolar RNA, H/ACA box 31B [Gene - HGNC]
  • NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
  • SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
  • SLC25A15:solute carrier family 25 member 15 [Gene - OMIM - HGNC]
  • SLC25A30:solute carrier family 25 member 30 [Gene - OMIM - HGNC]
  • SLC46A3:solute carrier family 46 member 3 [Gene - OMIM - HGNC]
  • SLC7A1:solute carrier family 7 member 1 [Gene - OMIM - HGNC]
  • SPART:spartin [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • SOHLH2:spermatogenesis and oogenesis specific basic helix-loop-helix 2 [Gene - OMIM - HGNC]
  • SPATA13:spermatogenesis associated 13 [Gene - OMIM - HGNC]
  • SKA3:spindle and kinetochore associated complex subunit 3 [Gene - HGNC]
  • SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
  • STOML3:stomatin like 3 [Gene - OMIM - HGNC]
  • SERP2:stress associated endoplasmic reticulum protein family member 2 [Gene - HGNC]
  • SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
  • TRN-GTT2-4:tRNA-Asn (anticodon GTT) 2-4 [Gene - HGNC]
  • TRE-TTC1-2:tRNA-Glu (anticodon TTC) 1-2 [Gene - HGNC]
  • TRE-TTC2-1:tRNA-Glu (anticodon TTC) 2-1 [Gene - HGNC]
  • TRF-GAA1-5:tRNA-Phe (anticodon GAA) 1-5 [Gene - HGNC]
  • TEX26:testis expressed 26 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TEX30:testis expressed 30 [Gene - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
  • LOC105376684:translation initiation factor IF-2-like [Gene]
  • TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
  • TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TMEM272:transmembrane protein 272 [Gene - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
  • TUBGCP3:tubulin gamma complex associated protein 3 [Gene - OMIM - HGNC]
  • TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
  • TPT1:tumor protein, translationally-controlled 1 [Gene - OMIM - HGNC]
  • TUSC8:tumor suppressor candidate 8 [Gene - HGNC]
  • UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
  • UBE2L5:ubiquitin conjugating enzyme E2 L5 [Gene - HGNC]
  • UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
  • UBL3:ubiquitin like 3 [Gene - OMIM - HGNC]
  • USP12:ubiquitin specific peptidase 12 [Gene - OMIM - HGNC]
  • USPL1:ubiquitin specific peptidase like 1 [Gene - OMIM - HGNC]
  • LOC100288208:uncharacterized LOC100288208 [Gene]
  • LOC100506016:uncharacterized LOC100506016 [Gene]
  • LOC101060553:uncharacterized LOC101060553 [Gene]
  • LOC101927248:uncharacterized LOC101927248 [Gene]
  • LOC101927284:uncharacterized LOC101927284 [Gene]
  • LOC101927437:uncharacterized LOC101927437 [Gene]
  • LOC101928730:uncharacterized LOC101928730 [Gene]
  • LOC101929140:uncharacterized LOC101929140 [Gene]
  • LOC101929259:uncharacterized LOC101929259 [Gene]
  • LOC101929657:uncharacterized LOC101929657 [Gene]
  • LOC102723345:uncharacterized LOC102723345 [Gene]
  • LOC102723968:uncharacterized LOC102723968 [Gene]
  • LOC105370203:uncharacterized LOC105370203 [Gene]
  • LOC105370295:uncharacterized LOC105370295 [Gene]
  • LOC105370361:uncharacterized LOC105370361 [Gene]
  • LOC105370362:uncharacterized LOC105370362 [Gene]
  • LOC112268114:uncharacterized LOC112268114 [Gene]
  • LOC780529:uncharacterized LOC780529 [Gene]
  • URAD:ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase [Gene - OMIM - HGNC]
  • VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
  • VWA8:von Willebrand factor A domain containing 8 [Gene - OMIM - HGNC]
  • ZC3H13:zinc finger CCCH-type containing 13 [Gene - OMIM - HGNC]
  • ZDHHC20:zinc finger DHHC-type palmitoyltransferase 20 [Gene - OMIM - HGNC]
  • ZMYM2:zinc finger MYM-type containing 2 [Gene - OMIM - HGNC]
  • ZMYM5:zinc finger MYM-type containing 5 [Gene - OMIM - HGNC]
  • ZAR1L:zygote arrest 1 like [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q12.11-34
Genomic location:
Preferred name:
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3
HGVS:
  • NC_000013.11:g.(?_19837395)_(114327173_?)dup
  • NC_000013.10:g.(?_20411535)_(115085141_?)dup
  • NC_000013.9:g.(?_19309535)_(114110750_?)dup
Links:
dbVar: nssv706333; dbVar: nsv532392
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
SCV000175714ISCA site 1

See additional submitters

no assertion criteria providedPathogenic
(Jan 27, 2011)
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.

SCV000175714

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000175714

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 1, SCV000175714.4

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

Last Updated: Nov 28, 2019

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