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GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000447823.4

Allele description [Variation Report for GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3]

GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3

Genes:
  • OGFOD3:2-oxoglutarate and iron dependent oxygenase domain containing 3 [Gene - HGNC]
  • NT5C:5', 3'-nucleotidase, cytosolic [Gene - OMIM - HGNC]
  • AKAP1:A-kinase anchoring protein 1 [Gene - OMIM - HGNC]
  • ABI3:ABI family member 3 [Gene - OMIM - HGNC]
  • ADAM11:ADAM metallopeptidase domain 11 [Gene - OMIM - HGNC]
  • ARL16:ADP ribosylation factor like GTPase 16 [Gene - OMIM - HGNC]
  • ARL17A:ADP ribosylation factor like GTPase 17A [Gene - HGNC]
  • ARL17B:ADP ribosylation factor like GTPase 17B [Gene - HGNC]
  • ASPSCR1:ASPSCR1 tether for SLC2A4, UBX domain containing [Gene - OMIM - HGNC]
  • ABCA10:ATP binding cassette subfamily A member 10 [Gene - OMIM - HGNC]
  • ABCA5:ATP binding cassette subfamily A member 5 [Gene - OMIM - HGNC]
  • ABCA6:ATP binding cassette subfamily A member 6 [Gene - OMIM - HGNC]
  • ABCA8:ATP binding cassette subfamily A member 8 [Gene - OMIM - HGNC]
  • ABCA9:ATP binding cassette subfamily A member 9 [Gene - OMIM - HGNC]
  • ABCC3:ATP binding cassette subfamily C member 3 [Gene - OMIM - HGNC]
  • ATP5MC1:ATP synthase membrane subunit c locus 1 [Gene - OMIM - HGNC]
  • ATP5PD:ATP synthase peripheral stalk subunit d [Gene - OMIM - HGNC]
  • ALYREF:Aly/REF export factor [Gene - OMIM - HGNC]
  • BAHCC1:BAH domain and coiled-coil containing 1 [Gene - OMIM - HGNC]
  • BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]
  • BCAS3:BCAS3 microtubule associated cell migration factor [Gene - OMIM - HGNC]
  • BRIP1:BRCA1 interacting helicase 1 [Gene - OMIM - HGNC]
  • BTBD17:BTB domain containing 17 [Gene - HGNC]
  • C1QTNF1:C1q and TNF related 1 [Gene - OMIM - HGNC]
  • CASKIN2:CASK interacting protein 2 [Gene - OMIM - HGNC]
  • CD300LB:CD300 molecule like family member b [Gene - OMIM - HGNC]
  • CD300LD:CD300 molecule like family member d [Gene - OMIM - HGNC]
  • CD300LF:CD300 molecule like family member f [Gene - OMIM - HGNC]
  • CD300LD-AS1:CD300LD antisense RNA 1 [Gene - HGNC]
  • CD300A:CD300a molecule [Gene - OMIM - HGNC]
  • CD300C:CD300c molecule [Gene - OMIM - HGNC]
  • CD300E:CD300e molecule [Gene - OMIM - HGNC]
  • CD7:CD7 molecule [Gene - OMIM - HGNC]
  • CD79B:CD79b molecule [Gene - OMIM - HGNC]
  • CDC42EP4:CDC42 effector protein 4 [Gene - OMIM - HGNC]
  • CDK5RAP3:CDK5 regulatory subunit associated protein 3 [Gene - OMIM - HGNC]
  • CHCT1:CHD1 helical C-terminal domain containing 1 [Gene - HGNC]
  • COPZ2:COPI coat complex subunit zeta 2 [Gene - OMIM - HGNC]
  • CUEDC1:CUE domain containing 1 [Gene - OMIM - HGNC]
  • DBF4B:DBF4B-CDC7 kinase regulatory subunit [Gene - OMIM - HGNC]
  • DCAF7:DDB1 and CUL4 associated factor 7 [Gene - OMIM - HGNC]
  • DDX42:DEAD-box helicase 42 [Gene - OMIM - HGNC]
  • DDX5:DEAD-box helicase 5 [Gene - OMIM - HGNC]
  • DHX40:DEAH-box helicase 40 [Gene - OMIM - HGNC]
  • POLG2:DNA polymerase gamma 2, accessory subunit [Gene - OMIM - HGNC]
  • DYNLL2-DT:DYNLL2 divergent transcript [Gene - HGNC]
  • EFCAB13:EF-hand calcium binding domain 13 [Gene - HGNC]
  • EFCAB3:EF-hand calcium binding domain 3 [Gene - OMIM - HGNC]
  • FAAP100:FA core complex associated protein 100 [Gene - OMIM - HGNC]
  • FAM20A:FAM20A golgi associated secretory pathway pseudokinase [Gene - OMIM - HGNC]
  • FBF1:Fas binding factor 1 [Gene - OMIM - HGNC]
  • FTSJ3:FtsJ RNA 2'-O-methyltransferase 3 [Gene - OMIM - HGNC]
  • GPS1:G protein pathway suppressor 1 [Gene - OMIM - HGNC]
  • GNA13:G protein subunit alpha 13 [Gene - OMIM - HGNC]
  • GNGT2:G protein subunit gamma transducin 2 [Gene - OMIM - HGNC]
  • GPR142:G protein-coupled receptor 142 [Gene - OMIM - HGNC]
  • GPRC5C:G protein-coupled receptor class C group 5 member C [Gene - OMIM - HGNC]
  • GPATCH8:G-patch domain containing 8 [Gene - OMIM - HGNC]
  • H3-3B:H3.3 histone B [Gene - OMIM - HGNC]
  • HEATR6:HEAT repeat containing 6 [Gene - HGNC]
  • HEXD-IT1:HEXD intronic transcript 1 [Gene - HGNC]
  • HEXIM1:HEXIM P-TEFb complex subunit 1 [Gene - OMIM - HGNC]
  • HEXIM2:HEXIM P-TEFb complex subunit 2 [Gene - OMIM - HGNC]
  • HID1:HID1 domain containing [Gene - OMIM - HGNC]
  • HIGD1B:HIG1 hypoxia inducible domain family member 1B [Gene - OMIM - HGNC]
  • HLF:HLF transcription factor, PAR bZIP family member [Gene - OMIM - HGNC]
  • JPT1:Jupiter microtubule associated homolog 1 [Gene - OMIM - HGNC]
  • KANSL1:KAT8 regulatory NSL complex subunit 1 [Gene - OMIM - HGNC]
  • LIMD2:LIM domain containing 2 [Gene - HGNC]
  • LLGL2:LLGL scribble cell polarity complex component 2 [Gene - OMIM - HGNC]
  • LUC7L3:LUC7 like 3 pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • MAFG:MAF bZIP transcription factor G [Gene - OMIM - HGNC]
  • MCRIP1:MAPK regulated corepressor interacting protein 1 [Gene - OMIM - HGNC]
  • MIF4GD:MIF4G domain containing [Gene - OMIM - HGNC]
  • MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
  • MYCBPAP:MYCBP associated protein [Gene - OMIM - HGNC]
  • NAT9:N-acetyltransferase 9 (putative) [Gene - HGNC]
  • NSF:N-ethylmaleimide sensitive factor, vesicle fusing ATPase [Gene - OMIM - HGNC]
  • NMT1:N-myristoyltransferase 1 [Gene - OMIM - HGNC]
  • SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
  • NDUFAF8:NADH:ubiquinone oxidoreductase complex assembly factor 8 [Gene - OMIM - HGNC]
  • NFE2L1:NFE2 like bZIP transcription factor 1 [Gene - OMIM - HGNC]
  • NHERF1:NHERF family PDZ scaffold protein 1 [Gene - OMIM - HGNC]
  • NME1:NME/NM23 nucleoside diphosphate kinase 1 [Gene - OMIM - HGNC]
  • NME2:NME/NM23 nucleoside diphosphate kinase 2 [Gene - OMIM - HGNC]
  • NME1-NME2:NME1-NME2 readthrough [Gene - HGNC]
  • NPLOC4:NPL4 homolog, ubiquitin recognition factor [Gene - OMIM - HGNC]
  • PRAC1:PRAC1 small nuclear protein [Gene - OMIM - HGNC]
  • PRAC2:PRAC2 small nuclear protein [Gene - OMIM - HGNC]
  • RAB37:RAB37, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAD51C:RAD51 paralog C [Gene - OMIM - HGNC]
  • RFNG:RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • RBFOX3:RNA binding fox-1 homolog 3 [Gene - OMIM - HGNC]
  • RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
  • RECQL5:RecQ like helicase 5 [Gene - OMIM - HGNC]
  • ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
  • ARHGAP27:Rho GTPase activating protein 27 [Gene - OMIM - HGNC]
  • SAP30BP:SAP30 binding protein [Gene - OMIM - HGNC]
  • SEC14L1:SEC14 like lipid binding 1 [Gene - OMIM - HGNC]
  • SMURF2:SMAD specific E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • SMG8:SMG8 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SNF8:SNF8 subunit of ESCRT-II [Gene - OMIM - HGNC]
  • SUPT4H1:SPT4 homolog, DSIF elongation factor subunit [Gene - OMIM - HGNC]
  • SOX9:SRY-box transcription factor 9 [Gene - OMIM - HGNC]
  • ST6GALNAC1:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
  • ST6GALNAC2:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 [Gene - OMIM - HGNC]
  • STRADA:STE20 related adaptor alpha [Gene - OMIM - HGNC]
  • SMARCD2:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [Gene - OMIM - HGNC]
  • SP2:Sp2 transcription factor [Gene - OMIM - HGNC]
  • SP6:Sp6 transcription factor [Gene - OMIM - HGNC]
  • TBX21:T-box transcription factor 21 [Gene - OMIM - HGNC]
  • TBX2:T-box transcription factor 2 [Gene - OMIM - HGNC]
  • TBX4:T-box transcription factor 4 [Gene - OMIM - HGNC]
  • TBC1D16:TBC1 domain family member 16 [Gene - OMIM - HGNC]
  • TBKBP1:TBK1 binding protein 1 [Gene - OMIM - HGNC]
  • TEN1:TEN1 subunit of CST complex [Gene - OMIM - HGNC]
  • TEPSIN:TEPSIN adaptor related protein complex 4 accessory protein [Gene - HGNC]
  • TIMP2:TIMP metallopeptidase inhibitor 2 [Gene - OMIM - HGNC]
  • TMEM105:TMEM105 long non-coding RNA [Gene - HGNC]
  • TSPOAP1:TSPO associated protein 1 [Gene - OMIM - HGNC]
  • UBALD2:UBA like domain containing 2 [Gene - HGNC]
  • B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
  • USH1G:USH1 protein network component sans [Gene - OMIM - HGNC]
  • UTP18:UTP18 small subunit processome component [Gene - OMIM - HGNC]
  • VCF1:VCP nuclear cofactor family member 1 [Gene - HGNC]
  • WFIKKN2:WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 [Gene - OMIM - HGNC]
  • WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
  • WIPI1:WD repeat domain, phosphoinositide interacting 1 [Gene - OMIM - HGNC]
  • WBP2:WW domain binding protein 2 [Gene - OMIM - HGNC]
  • WNT3:Wnt family member 3 [Gene - OMIM - HGNC]
  • WNT9B:Wnt family member 9B [Gene - OMIM - HGNC]
  • ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
  • ACBD4:acyl-CoA binding domain containing 4 [Gene - OMIM - HGNC]
  • ACOX1:acyl-CoA oxidase 1 [Gene - OMIM - HGNC]
  • ACSF2:acyl-CoA synthetase family member 2 [Gene - OMIM - HGNC]
  • GAA:alpha glucosidase [Gene - OMIM - HGNC]
  • MGAT5B:alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
  • NPEPPS:aminopeptidase puromycin sensitive [Gene - OMIM - HGNC]
  • APPBP2:amyloid beta precursor protein binding protein 2 [Gene - OMIM - HGNC]
  • ANAPC11:anaphase promoting complex subunit 11 [Gene - OMIM - HGNC]
  • ACE:angiotensin I converting enzyme [Gene - OMIM - HGNC]
  • ANKFN1:ankyrin repeat and fibronectin type III domain containing 1 [Gene - HGNC]
  • ANKRD40:ankyrin repeat domain 40 [Gene - HGNC]
  • APOH:apolipoprotein H [Gene - OMIM - HGNC]
  • AATK:apoptosis associated tyrosine kinase [Gene - OMIM - HGNC]
  • AANAT:aralkylamine N-acetyltransferase [Gene - OMIM - HGNC]
  • AMZ2:archaelysin family metallopeptidase 2 [Gene - OMIM - HGNC]
  • ARMC7:armadillo repeat containing 7 [Gene - HGNC]
  • AFMID:arylformamidase [Gene - HGNC]
  • ARSG:arylsulfatase G [Gene - OMIM - HGNC]
  • AXIN2:axin 2 [Gene - OMIM - HGNC]
  • BIRC5:baculoviral IAP repeat containing 5 [Gene - OMIM - HGNC]
  • B4GALNT2:beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group) [Gene - OMIM - HGNC]
  • BPTF:bromodomain PHD finger transcription factor [Gene - OMIM - HGNC]
  • CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]
  • CALCOCO2:calcium binding and coiled-coil domain 2 [Gene - OMIM - HGNC]
  • CACNG1:calcium voltage-gated channel auxiliary subunit gamma 1 [Gene - OMIM - HGNC]
  • CACNG4:calcium voltage-gated channel auxiliary subunit gamma 4 [Gene - OMIM - HGNC]
  • CACNG5:calcium voltage-gated channel auxiliary subunit gamma 5 [Gene - OMIM - HGNC]
  • CACNA1G:calcium voltage-gated channel subunit alpha1 G [Gene - OMIM - HGNC]
  • CA10:carbonic anhydrase 10 [Gene - OMIM - HGNC]
  • CA4:carbonic anhydrase 4 [Gene - OMIM - HGNC]
  • CSNK1D:casein kinase 1 delta [Gene - OMIM - HGNC]
  • CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
  • CDC27:cell division cycle 27 [Gene - OMIM - HGNC]
  • CENPX:centromere protein X [Gene - OMIM - HGNC]
  • CEP112:centrosomal protein 112 [Gene - OMIM - HGNC]
  • CEP131:centrosomal protein 131 [Gene - OMIM - HGNC]
  • CEP95:centrosomal protein 95 [Gene - HGNC]
  • CDR2L:cerebellar degeneration related protein 2 like [Gene - HGNC]
  • CHMP6:charged multivesicular body protein 6 [Gene - OMIM - HGNC]
  • CHAD:chondroadherin [Gene - OMIM - HGNC]
  • CSH1:chorionic somatomammotropin hormone 1 [Gene - OMIM - HGNC]
  • CSH2:chorionic somatomammotropin hormone 2 [Gene - OMIM - HGNC]
  • CSHL1:chorionic somatomammotropin hormone like 1 [Gene - OMIM - HGNC]
  • CBX1:chromobox 1 [Gene - OMIM - HGNC]
  • CBX2:chromobox 2 [Gene - OMIM - HGNC]
  • CBX4:chromobox 4 [Gene - OMIM - HGNC]
  • CBX8:chromobox 8 [Gene - OMIM - HGNC]
  • C17orf47:chromosome 17 open reading frame 47 [Gene - HGNC]
  • C17orf58:chromosome 17 open reading frame 58 [Gene - HGNC]
  • C17orf67:chromosome 17 open reading frame 67 [Gene - HGNC]
  • C17orf99:chromosome 17 open reading frame 99 [Gene - HGNC]
  • CLTC:clathrin heavy chain [Gene - OMIM - HGNC]
  • CPSF4L:cleavage and polyadenylation specific factor 4 like [Gene - HGNC]
  • CCDC40:coiled-coil domain 40 molecular ruler complex subunit [Gene - OMIM - HGNC]
  • CCDC103:coiled-coil domain containing 103 [Gene - OMIM - HGNC]
  • CCDC137:coiled-coil domain containing 137 [Gene - OMIM - HGNC]
  • CCDC43:coiled-coil domain containing 43 [Gene - HGNC]
  • CCDC47:coiled-coil domain containing 47 [Gene - OMIM - HGNC]
  • CCDC57:coiled-coil domain containing 57 [Gene - HGNC]
  • COIL:coilin [Gene - OMIM - HGNC]
  • COL1A1:collagen type I alpha 1 chain [Gene - OMIM - HGNC]
  • C1QL1:complement C1q like 1 [Gene - OMIM - HGNC]
  • COG1:component of oligomeric golgi complex 1 [Gene - OMIM - HGNC]
  • CRHR1:corticotropin releasing hormone receptor 1 [Gene - OMIM - HGNC]
  • CDK3:cyclin dependent kinase 3 [Gene - OMIM - HGNC]
  • CYBC1:cytochrome b-245 chaperone 1 [Gene - OMIM - HGNC]
  • CYB561:cytochrome b561 [Gene - OMIM - HGNC]
  • COX11:cytochrome c oxidase copper chaperone COX11 [Gene - OMIM - HGNC]
  • CYGB:cytoglobin [Gene - OMIM - HGNC]
  • CYTH1:cytohesin 1 [Gene - OMIM - HGNC]
  • DCAKD:dephospho-CoA kinase domain containing [Gene - HGNC]
  • DGKE:diacylglycerol kinase epsilon [Gene - OMIM - HGNC]
  • DCXR:dicarbonyl and L-xylulose reductase [Gene - OMIM - HGNC]
  • DUS1L:dihydrouridine synthase 1 like [Gene - HGNC]
  • DLX3:distal-less homeobox 3 [Gene - OMIM - HGNC]
  • DLX4:distal-less homeobox 4 [Gene - OMIM - HGNC]
  • DNAH17:dynein axonemal heavy chain 17 [Gene - OMIM - HGNC]
  • DNAI2:dynein axonemal intermediate chain 2 [Gene - OMIM - HGNC]
  • DYNLL2:dynein light chain LC8-type 2 [Gene - OMIM - HGNC]
  • ENPP7:ectonucleotide pyrophosphatase/phosphodiesterase 7 [Gene - OMIM - HGNC]
  • EFTUD2:elongation factor Tu GTP binding domain containing 2 [Gene - OMIM - HGNC]
  • ENGASE:endo-beta-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • ENDOV:endonuclease V [Gene - OMIM - HGNC]
  • ERN1:endoplasmic reticulum to nucleus signaling 1 [Gene - OMIM - HGNC]
  • EVPL:envoplakin [Gene - OMIM - HGNC]
  • EPX:eosinophil peroxidase [Gene - OMIM - HGNC]
  • EPN3:epsin 3 [Gene - OMIM - HGNC]
  • EME1:essential meiotic structure-specific endonuclease 1 [Gene - OMIM - HGNC]
  • EIF4A3:eukaryotic translation initiation factor 4A3 [Gene - OMIM - HGNC]
  • EXOC7:exocyst complex component 7 [Gene - OMIM - HGNC]
  • FAM117A:family with sequence similarity 117 member A [Gene - HGNC]
  • FSCN2:fascin actin-bundling protein 2, retinal [Gene - OMIM - HGNC]
  • FADS6:fatty acid desaturase 6 [Gene - OMIM - HGNC]
  • FASN:fatty acid synthase [Gene - OMIM - HGNC]
  • FDXR:ferredoxin reductase [Gene - OMIM - HGNC]
  • FOXJ1:forkhead box J1 [Gene - OMIM - HGNC]
  • FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
  • FMNL1:formin like 1 [Gene - OMIM - HGNC]
  • FZD2:frizzled class receptor 2 [Gene - OMIM - HGNC]
  • FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
  • FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
  • GALK1:galactokinase 1 [Gene - OMIM - HGNC]
  • GALR2:galanin receptor 2 [Gene - OMIM - HGNC]
  • LGALS3BP:galectin 3 binding protein [Gene - OMIM - HGNC]
  • GJC1:gap junction protein gamma 1 [Gene - OMIM - HGNC]
  • GIP:gastric inhibitory polypeptide [Gene - OMIM - HGNC]
  • GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
  • GCGR:glucagon receptor [Gene - OMIM - HGNC]
  • GRIN2C:glutamate ionotropic receptor NMDA type subunit 2C [Gene - OMIM - HGNC]
  • QRICH2:glutamine rich 2 [Gene - OMIM - HGNC]
  • GDPD1:glycerophosphodiester phosphodiesterase domain containing 1 [Gene - OMIM - HGNC]
  • GOSR2:golgi SNAP receptor complex member 2 [Gene - OMIM - HGNC]
  • GGA3:golgi associated, gamma adaptin ear containing, ARF binding protein 3 [Gene - OMIM - HGNC]
  • GRB2:growth factor receptor bound protein 2 [Gene - OMIM - HGNC]
  • GH1:growth hormone 1 [Gene - OMIM - HGNC]
  • GH2:growth hormone 2 [Gene - OMIM - HGNC]
  • HSF5:heat shock transcription factor 5 [Gene - HGNC]
  • HELZ:helicase with zinc finger [Gene - OMIM - HGNC]
  • HGS:hepatocyte growth factor-regulated tyrosine kinase substrate [Gene - OMIM - HGNC]
  • HEXD:hexosaminidase D [Gene - OMIM - HGNC]
  • HOXB13:homeobox B13 [Gene - OMIM - HGNC]
  • HOXB1:homeobox B1 [Gene - OMIM - HGNC]
  • HOXB2:homeobox B2 [Gene - OMIM - HGNC]
  • HOXB3:homeobox B3 [Gene - OMIM - HGNC]
  • HOXB4:homeobox B4 [Gene - OMIM - HGNC]
  • HOXB5:homeobox B5 [Gene - OMIM - HGNC]
  • HOXB6:homeobox B6 [Gene - OMIM - HGNC]
  • HOXB7:homeobox B7 [Gene - OMIM - HGNC]
  • HOXB8:homeobox B8 [Gene - OMIM - HGNC]
  • HOXB9:homeobox B9 [Gene - OMIM - HGNC]
  • IGF2BP1:insulin like growth factor 2 mRNA binding protein 1 [Gene - OMIM - HGNC]
  • INTS2:integrator complex subunit 2 [Gene - OMIM - HGNC]
  • ITGA3:integrin subunit alpha 3 [Gene - OMIM - HGNC]
  • ITGB3:integrin subunit beta 3 [Gene - OMIM - HGNC]
  • ITGB4:integrin subunit beta 4 [Gene - OMIM - HGNC]
  • ICAM2:intercellular adhesion molecule 2 [Gene - OMIM - HGNC]
  • JMJD6:jumonji domain containing 6, arginine demethylase and lysine hydroxylase [Gene - OMIM - HGNC]
  • KPNA2:karyopherin subunit alpha 2 [Gene - OMIM - HGNC]
  • KPNB1:karyopherin subunit beta 1 [Gene - OMIM - HGNC]
  • KIF18B:kinesin family member 18B [Gene - OMIM - HGNC]
  • KIF19:kinesin family member 19 [Gene - OMIM - HGNC]
  • KIF2B:kinesin family member 2B [Gene - OMIM - HGNC]
  • LPO:lactoperoxidase [Gene - OMIM - HGNC]
  • LRRC37A2:leucine rich repeat containing 37 member A2 [Gene - OMIM - HGNC]
  • LRRC37A3:leucine rich repeat containing 37 member A3 [Gene - OMIM - HGNC]
  • LRRC37A:leucine rich repeat containing 37A [Gene - OMIM - HGNC]
  • LRRC45:leucine rich repeat containing 45 [Gene - HGNC]
  • LRRC46:leucine rich repeat containing 46 [Gene - HGNC]
  • LRRC59:leucine rich repeat containing 59 [Gene - OMIM - HGNC]
  • LINC02875:long intergenic non-protein coding RNA 2875 [Gene - HGNC]
  • LINC02876:long intergenic non-protein coding RNA 2876 [Gene - HGNC]
  • KAT7:lysine acetyltransferase 7 [Gene - OMIM - HGNC]
  • MFSD11:major facilitator superfamily domain containing 11 [Gene - OMIM - HGNC]
  • MRC2:mannose receptor C-type 2 [Gene - OMIM - HGNC]
  • MILR1:mast cell immunoglobulin like receptor 1 [Gene - HGNC]
  • MXRA7:matrix remodeling associated 7 [Gene - HGNC]
  • MBTD1:mbt domain containing 1 [Gene - OMIM - HGNC]
  • MED13:mediator complex subunit 13 [Gene - OMIM - HGNC]
  • MEIOC:meiosis specific with coiled-coil domain [Gene - OMIM - HGNC]
  • MARCHF10:membrane associated ring-CH-type finger 10 [Gene - OMIM - HGNC]
  • METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • METTL23:methyltransferase 23, arginine [Gene - OMIM - HGNC]
  • METTL2A:methyltransferase 2A, tRNA N3-cytidine [Gene - OMIM - HGNC]
  • MIR10A:microRNA 10a [Gene - OMIM - HGNC]
  • MIR152:microRNA 152 [Gene - OMIM - HGNC]
  • MIR196A1:microRNA 196a-1 [Gene - OMIM - HGNC]
  • MIR21:microRNA 21 [Gene - OMIM - HGNC]
  • MIR338:microRNA 338 [Gene - OMIM - HGNC]
  • MAPT:microtubule associated protein tau [Gene - OMIM - HGNC]
  • MTNAP1:mitochondrial nucleoid associated protein 1 [Gene - OMIM - HGNC]
  • MRPL10:mitochondrial ribosomal protein L10 [Gene - OMIM - HGNC]
  • MRPL12:mitochondrial ribosomal protein L12 [Gene - OMIM - HGNC]
  • MRPL27:mitochondrial ribosomal protein L27 [Gene - OMIM - HGNC]
  • MRPL38:mitochondrial ribosomal protein L38 [Gene - OMIM - HGNC]
  • MRPL58:mitochondrial ribosomal protein L58 [Gene - OMIM - HGNC]
  • MRPS23:mitochondrial ribosomal protein S23 [Gene - OMIM - HGNC]
  • MRPS7:mitochondrial ribosomal protein S7 [Gene - OMIM - HGNC]
  • MAP2K6:mitogen-activated protein kinase kinase 6 [Gene - OMIM - HGNC]
  • MAP3K14:mitogen-activated protein kinase kinase kinase 14 [Gene - OMIM - HGNC]
  • MAP3K3:mitogen-activated protein kinase kinase kinase 3 [Gene - OMIM - HGNC]
  • MMD:monocyte to macrophage differentiation associated [Gene - OMIM - HGNC]
  • MSI2:musashi RNA binding protein 2 [Gene - OMIM - HGNC]
  • MYADML2:myeloid associated differentiation marker like 2 [Gene - HGNC]
  • MPO:myeloperoxidase [Gene - OMIM - HGNC]
  • MYL4:myosin light chain 4 [Gene - OMIM - HGNC]
  • MTMR4:myotubularin related protein 4 [Gene - OMIM - HGNC]
  • NACA2:nascent polypeptide associated complex subunit alpha 2 [Gene - OMIM - HGNC]
  • NGFR:nerve growth factor receptor [Gene - OMIM - HGNC]
  • NXPH3:neurexophilin 3 [Gene - OMIM - HGNC]
  • NPTX1:neuronal pentraxin 1 [Gene - OMIM - HGNC]
  • NPB:neuropeptide B [Gene - OMIM - HGNC]
  • NOG:noggin [Gene - OMIM - HGNC]
  • NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
  • NARF:nuclear prelamin A recognition factor [Gene - OMIM - HGNC]
  • NOL11:nucleolar protein 11 [Gene - OMIM - HGNC]
  • NUP85:nucleoporin 85 [Gene - OMIM - HGNC]
  • OR4D1:olfactory receptor family 4 subfamily D member 1 [Gene - HGNC]
  • OR4D2:olfactory receptor family 4 subfamily D member 2 [Gene - HGNC]
  • OTOP2:otopetrin 2 [Gene - OMIM - HGNC]
  • OTOP3:otopetrin 3 [Gene - OMIM - HGNC]
  • OXLD1:oxidoreductase like domain containing 1 [Gene - HGNC]
  • OSBPL7:oxysterol binding protein like 7 [Gene - OMIM - HGNC]
  • PTRH2:peptidyl-tRNA hydrolase 2 [Gene - OMIM - HGNC]
  • PCYT2:phosphate cytidylyltransferase 2, ethanolamine [Gene - OMIM - HGNC]
  • PCTP:phosphatidylcholine transfer protein [Gene - OMIM - HGNC]
  • PGS1:phosphatidylglycerophosphate synthase 1 [Gene - OMIM - HGNC]
  • PITPNC1:phosphatidylinositol transfer protein cytoplasmic 1 [Gene - OMIM - HGNC]
  • PDE6G:phosphodiesterase 6G [Gene - OMIM - HGNC]
  • PHOSPHO1:phosphoethanolamine/phosphocholine phosphatase 1 [Gene - HGNC]
  • PLCD3:phospholipase C delta 3 [Gene - OMIM - HGNC]
  • PRPSAP1:phosphoribosyl pyrophosphate synthetase associated protein 1 [Gene - OMIM - HGNC]
  • PRCD:photoreceptor disc component [Gene - OMIM - HGNC]
  • PECAM1:platelet and endothelial cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • PLEKHM1:pleckstrin homology and RUN domain containing M1 [Gene - OMIM - HGNC]
  • KCTD2:potassium channel tetramerization domain containing 2 [Gene - OMIM - HGNC]
  • KCNJ16:potassium inwardly rectifying channel subfamily J member 16 [Gene - OMIM - HGNC]
  • KCNJ2:potassium inwardly rectifying channel subfamily J member 2 [Gene - OMIM - HGNC]
  • KCNH6:potassium voltage-gated channel subfamily H member 6 [Gene - OMIM - HGNC]
  • PHB1:prohibitin 1 [Gene - OMIM - HGNC]
  • PRR11:proline rich 11 [Gene - OMIM - HGNC]
  • PRR15L:proline rich 15 like [Gene - HGNC]
  • PRR29:proline rich 29 [Gene - HGNC]
  • P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]
  • PSMC5:proteasome 26S subunit, ATPase 5 [Gene - OMIM - HGNC]
  • PSMD12:proteasome 26S subunit, non-ATPase 12 [Gene - OMIM - HGNC]
  • PRKCA:protein kinase C alpha [Gene - OMIM - HGNC]
  • PRKAR1A:protein kinase cAMP-dependent type I regulatory subunit alpha [Gene - OMIM - HGNC]
  • PPP1R27:protein phosphatase 1 regulatory subunit 27 [Gene - HGNC]
  • PPP1R9B:protein phosphatase 1 regulatory subunit 9B [Gene - OMIM - HGNC]
  • PPM1D:protein phosphatase, Mg2+/Mn2+ dependent 1D [Gene - OMIM - HGNC]
  • PPM1E:protein phosphatase, Mg2+/Mn2+ dependent 1E [Gene - OMIM - HGNC]
  • PNPO:pyridoxamine 5'-phosphate oxidase [Gene - OMIM - HGNC]
  • PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
  • PDK2:pyruvate dehydrogenase kinase 2 [Gene - OMIM - HGNC]
  • RSAD1:radical S-adenosyl methionine domain containing 1 [Gene - OMIM - HGNC]
  • RGS9:regulator of G protein signaling 9 [Gene - OMIM - HGNC]
  • RPTOR:regulatory associated protein of MTOR complex 1 [Gene - OMIM - HGNC]
  • RPRML:reprimo like [Gene - HGNC]
  • RHBDF2:rhomboid 5 homolog 2 [Gene - OMIM - HGNC]
  • RPL38:ribosomal protein L38 [Gene - OMIM - HGNC]
  • RPS6KB1:ribosomal protein S6 kinase B1 [Gene - OMIM - HGNC]
  • RNF157:ring finger protein 157 [Gene - HGNC]
  • RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
  • RNF43:ring finger protein 43 [Gene - OMIM - HGNC]
  • RNFT1:ring finger protein, transmembrane 1 [Gene - OMIM - HGNC]
  • STH:saitohin [Gene - OMIM - HGNC]
  • SGCA:sarcoglycan alpha [Gene - OMIM - HGNC]
  • SCRN2:secernin 2 [Gene - OMIM - HGNC]
  • SECTM1:secreted and transmembrane 1 [Gene - OMIM - HGNC]
  • SEPTIN4:septin 4 [Gene - OMIM - HGNC]
  • SEPTIN9:septin 9 [Gene - OMIM - HGNC]
  • SRSF1:serine and arginine rich splicing factor 1 [Gene - OMIM - HGNC]
  • SRSF2:serine and arginine rich splicing factor 2 [Gene - OMIM - HGNC]
  • SCPEP1:serine carboxypeptidase 1 [Gene - OMIM - HGNC]
  • SDK2:sidekick cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • SPPL2C:signal peptide peptidase like 2C [Gene - OMIM - HGNC]
  • SRP68:signal recognition particle 68 [Gene - OMIM - HGNC]
  • SIRT7:sirtuin 7 [Gene - OMIM - HGNC]
  • SMIM5:small integral membrane protein 5 [Gene - HGNC]
  • SMIM6:small integral membrane protein 6 [Gene - OMIM - HGNC]
  • SUMO2:small ubiquitin like modifier 2 [Gene - OMIM - HGNC]
  • SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
  • SLC16A3:solute carrier family 16 member 3 [Gene - OMIM - HGNC]
  • SLC16A5:solute carrier family 16 member 5 [Gene - OMIM - HGNC]
  • SLC16A6:solute carrier family 16 member 6 [Gene - OMIM - HGNC]
  • SLC25A10:solute carrier family 25 member 10 [Gene - OMIM - HGNC]
  • SLC25A19:solute carrier family 25 member 19 [Gene - OMIM - HGNC]
  • SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]
  • SLC35B1:solute carrier family 35 member B1 [Gene - OMIM - HGNC]
  • SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
  • SLC39A11:solute carrier family 39 member 11 [Gene - OMIM - HGNC]
  • SSTR2:somatostatin receptor 2 [Gene - OMIM - HGNC]
  • SNX11:sorting nexin 11 [Gene - OMIM - HGNC]
  • SPOP:speckle type BTB/POZ protein [Gene - OMIM - HGNC]
  • SPAG9:sperm associated antigen 9 [Gene - OMIM - HGNC]
  • SPATA20:spermatogenesis associated 20 [Gene - OMIM - HGNC]
  • SPATA32:spermatogenesis associated 32 [Gene - HGNC]
  • SPHK1:sphingosine kinase 1 [Gene - OMIM - HGNC]
  • SKA2:spindle and kinetochore associated complex subunit 2 [Gene - OMIM - HGNC]
  • SKAP1:src kinase associated phosphoprotein 1 [Gene - OMIM - HGNC]
  • SAMD14:sterile alpha motif domain containing 14 [Gene - OMIM - HGNC]
  • SOCS3:suppressor of cytokine signaling 3 [Gene - OMIM - HGNC]
  • SYNGR2:synaptogyrin 2 [Gene - OMIM - HGNC]
  • STXBP4:syntaxin binding protein 4 [Gene - OMIM - HGNC]
  • TSEN54:tRNA splicing endonuclease subunit 54 [Gene - OMIM - HGNC]
  • TRQ-TTG1-1:tRNA-Gln (anticodon TTG) 1-1 [Gene - OMIM - HGNC]
  • TAC4:tachykinin precursor 4 [Gene - OMIM - HGNC]
  • TOM1L1:target of myb1 like 1 membrane trafficking protein [Gene - OMIM - HGNC]
  • TEX14:testis expressed 14, intercellular bridge forming factor [Gene - OMIM - HGNC]
  • TEX19:testis expressed 19 [Gene - OMIM - HGNC]
  • TEX2:testis expressed 2 [Gene - OMIM - HGNC]
  • TSPAN10:tetraspanin 10 [Gene - HGNC]
  • TANC2:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 [Gene - OMIM - HGNC]
  • TK1:thymidine kinase 1 [Gene - OMIM - HGNC]
  • TLK2:tousled like kinase 2 [Gene - OMIM - HGNC]
  • TOB1:transducer of ERBB2, 1 [Gene - OMIM - HGNC]
  • TACO1:translational activator of cytochrome c oxidase I [Gene - OMIM - HGNC]
  • TMC6:transmembrane channel like 6 [Gene - OMIM - HGNC]
  • TMC8:transmembrane channel like 8 [Gene - OMIM - HGNC]
  • TMEM100:transmembrane protein 100 [Gene - OMIM - HGNC]
  • TMEM104:transmembrane protein 104 [Gene - HGNC]
  • TMEM235:transmembrane protein 235 [Gene - OMIM - HGNC]
  • TMEM92:transmembrane protein 92 [Gene - OMIM - HGNC]
  • TMEM94:transmembrane protein 94 [Gene - OMIM - HGNC]
  • TNRC6C:trinucleotide repeat containing adaptor 6C [Gene - OMIM - HGNC]
  • TRIM25:tripartite motif containing 25 [Gene - OMIM - HGNC]
  • TRIM37:tripartite motif containing 37 [Gene - OMIM - HGNC]
  • TRIM47:tripartite motif containing 47 [Gene - OMIM - HGNC]
  • TRIM65:tripartite motif containing 65 [Gene - OMIM - HGNC]
  • TUBD1:tubulin delta 1 [Gene - OMIM - HGNC]
  • TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
  • TTLL6:tubulin tyrosine ligase like 6 [Gene - OMIM - HGNC]
  • TTYH2:tweety family member 2 [Gene - OMIM - HGNC]
  • UBE2O:ubiquitin conjugating enzyme E2 O [Gene - OMIM - HGNC]
  • UBE2Z:ubiquitin conjugating enzyme E2 Z [Gene - OMIM - HGNC]
  • USP32:ubiquitin specific peptidase 32 [Gene - OMIM - HGNC]
  • USP36:ubiquitin specific peptidase 36 [Gene - OMIM - HGNC]
  • UNC13D:unc-13 homolog D [Gene - OMIM - HGNC]
  • UNK:unk zinc finger [Gene - OMIM - HGNC]
  • UTS2R:urotensin 2 receptor [Gene - OMIM - HGNC]
  • VMP1:vacuole membrane protein 1 [Gene - OMIM - HGNC]
  • VEZF1:vascular endothelial zinc finger 1 [Gene - OMIM - HGNC]
  • XYLT2:xylosyltransferase 2 [Gene - OMIM - HGNC]
  • YPEL2:yippee like 2 [Gene - OMIM - HGNC]
  • ZACN:zinc activated ion channel [Gene - OMIM - HGNC]
  • ZNF652:zinc finger protein 652 [Gene - OMIM - HGNC]
  • ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q21.31-25.3
Genomic location:
Chr17: 42580684 - 81085615 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3
HGVS:
    Links:
    dbVar: nssv13653908; dbVar: nsv2779082
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000501134ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Pathogenicunknownclinical testing

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

    Help

    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 6, SCV000501134.1

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

    Last Updated: May 7, 2024