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GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) AND Distal tetrasomy 15q

Germline classification:
Uncertain significance (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:
RCV002280776.1

Allele description [Variation Report for GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)]

GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)

Genes:
  • HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
  • ALG2:ALG2 alpha-1,3/1,6-mannosyltransferase [Gene - OMIM - HGNC]
  • AKNA:AT-hook transcription factor [Gene - OMIM - HGNC]
  • ARID3C:AT-rich interaction domain 3C [Gene - OMIM - HGNC]
  • ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
  • AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ATP6V1G1:ATPase H+ transporting V1 subunit G1 [Gene - OMIM - HGNC]
  • AUH:AU RNA binding methylglutaconyl-CoA hydratase [Gene - OMIM - HGNC]
  • BSPRY:B-box and SPRY domain containing [Gene - OMIM - HGNC]
  • BAG1:BAG cochaperone 1 [Gene - OMIM - HGNC]
  • BARX1:BARX homeobox 1 [Gene - OMIM - HGNC]
  • BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CCL19:C-C motif chemokine ligand 19 [Gene - OMIM - HGNC]
  • CCL21:C-C motif chemokine ligand 21 [Gene - OMIM - HGNC]
  • CCL27:C-C motif chemokine ligand 27 [Gene - OMIM - HGNC]
  • C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • CD72:CD72 molecule [Gene - OMIM - HGNC]
  • CKS2:CDC28 protein kinase regulatory subunit 2 [Gene - OMIM - HGNC]
  • CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
  • DAPK1-IT1:DAPK1 intronic transcript 1 [Gene - HGNC]
  • DCAF10:DDB1 and CUL4 associated factor 10 [Gene - OMIM - HGNC]
  • DCAF12:DDB1 and CUL4 associated factor 12 [Gene - OMIM - HGNC]
  • DENND4C:DENN domain containing 4C [Gene - HGNC]
  • DIRAS2:DIRAS family GTPase 2 [Gene - OMIM - HGNC]
  • DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
  • POLE3:DNA polymerase epsilon 3, accessory subunit [Gene - OMIM - HGNC]
  • DNAJC25-GNG10:DNAJC25-GNG10 readthrough [Gene - HGNC]
  • DNAJA1:DnaJ heat shock protein family (Hsp40) member A1 [Gene - OMIM - HGNC]
  • DNAJB5:DnaJ heat shock protein family (Hsp40) member B5 [Gene - OMIM - HGNC]
  • DNAJC25:DnaJ heat shock protein family (Hsp40) member C25 [Gene - HGNC]
  • ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
  • ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
  • ECPAS:Ecm29 proteasome adaptor and scaffold [Gene - OMIM - HGNC]
  • FBXO10:F-box protein 10 [Gene - OMIM - HGNC]
  • FANCC:FA complementation group C [Gene - OMIM - HGNC]
  • FANCG:FA complementation group G [Gene - OMIM - HGNC]
  • FRMPD1:FERM and PDZ domain containing 1 [Gene - OMIM - HGNC]
  • FRMD3:FERM domain containing 3 [Gene - OMIM - HGNC]
  • FKBP15:FKBP prolyl isomerase family member 15 [Gene - OMIM - HGNC]
  • FGD3:FYVE, RhoGEF and PH domain containing 3 [Gene - OMIM - HGNC]
  • GKAP1:G kinase anchoring protein 1 [Gene - OMIM - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • GNG10:G protein subunit gamma 10 [Gene - OMIM - HGNC]
  • GLIPR2:GLI pathogenesis related 2 [Gene - OMIM - HGNC]
  • IDNK:IDNK gluconokinase [Gene - OMIM - HGNC]
  • INIP:INTS3 and NABP interacting protein [Gene - OMIM - HGNC]
  • IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
  • KIAA1958:KIAA1958 [Gene - OMIM - HGNC]
  • KLF4:KLF transcription factor 4 [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
  • MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
  • MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
  • MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
  • NANS:N-acetylneuraminate synthase [Gene - OMIM - HGNC]
  • NAA35:N-alpha-acetyltransferase 35, NatC auxiliary subunit [Gene - OMIM - HGNC]
  • NDUFB6:NADH:ubiquinone oxidoreductase subunit B6 [Gene - OMIM - HGNC]
  • NUTM2F:NUT family member 2F [Gene - HGNC]
  • NUTM2G:NUT family member 2G [Gene - HGNC]
  • PALM2AKAP2:PALM2 and AKAP2 fusion [Gene - OMIM - HGNC]
  • PAPPA-AS1:PAPPA antisense RNA 1 [Gene - OMIM - HGNC]
  • PHF24:PHD finger protein 24 [Gene - OMIM - HGNC]
  • PHF2:PHD finger protein 2 [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • QNG1:Q-nucleotide N-glycosylase 1 [Gene - OMIM - HGNC]
  • RAD23B:RAD23 homolog B, nucleotide excision repair protein [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • RASEF:RAS and EF-hand domain containing [Gene - OMIM - HGNC]
  • RGP1:RGP1 homolog, RAB6A GEF complex partner 1 [Gene - OMIM - HGNC]
  • RMRP:RNA component of mitochondrial RNA processing endoribonuclease [Gene - OMIM - HGNC]
  • POLR1E:RNA polymerase I subunit E [Gene - HGNC]
  • RIGI:RNA sensor RIG-I [Gene - OMIM - HGNC]
  • RUSC2:RUN and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • RMI1:RecQ mediated genome instability 1 [Gene - OMIM - HGNC]
  • ARHGEF39:Rho guanine nucleotide exchange factor 39 [Gene - HGNC]
  • SEC61B:SEC61 translocon subunit beta [Gene - OMIM - HGNC]
  • SECISBP2:SECIS binding protein 2 [Gene - OMIM - HGNC]
  • SHB:SH2 domain containing adaptor protein B [Gene - OMIM - HGNC]
  • SHC3:SHC adaptor protein 3 [Gene - OMIM - HGNC]
  • SMU1:SMU1 DNA replication regulator and spliceosomal factor [Gene - OMIM - HGNC]
  • SPATA31A1:SPATA31 subfamily A member 1 [Gene - HGNC]
  • SPATA31A3:SPATA31 subfamily A member 3 [Gene - HGNC]
  • SPATA31A5:SPATA31 subfamily A member 5 [Gene - HGNC]
  • SPATA31A6:SPATA31 subfamily A member 6 [Gene - HGNC]
  • SPATA31A7:SPATA31 subfamily A member 7 [Gene - OMIM - HGNC]
  • SPATA31C1:SPATA31 subfamily C member 1 [Gene - HGNC]
  • SPATA31C2:SPATA31 subfamily C member 2 [Gene - HGNC]
  • SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
  • SPATA31D3:SPATA31 subfamily D member 3 [Gene - HGNC]
  • SPATA31D4:SPATA31 subfamily D member 4 [Gene - HGNC]
  • SPATA31E1:SPATA31 subfamily E member 1 [Gene - HGNC]
  • SPATA31F1:SPATA31 subfamily F member 1 [Gene - HGNC]
  • SPATA31G1:SPATA31 subfamily G member 1 [Gene - HGNC]
  • TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • TAF1L:TATA-box binding protein associated factor 1 like [Gene - OMIM - HGNC]
  • TBC1D2:TBC1 domain family member 2 [Gene - OMIM - HGNC]
  • TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
  • TLE1:TLE family member 1, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • TNFSF15:TNF superfamily member 15 [Gene - OMIM - HGNC]
  • TNFSF8:TNF superfamily member 8 [Gene - OMIM - HGNC]
  • TOPORS:TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • UGCG:UDP-glucose ceramide glucosyltransferase [Gene - OMIM - HGNC]
  • WDR31:WD repeat domain 31 [Gene - HGNC]
  • WNK2:WNK lysine deficient protein kinase 2 [Gene - OMIM - HGNC]
  • XPA:XPA, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
  • ZFP37:ZFP37 zinc finger protein [Gene - OMIM - HGNC]
  • ZNG1C:Zn regulated GTPase metalloprotein activator 1C [Gene - OMIM - HGNC]
  • ZNG1E:Zn regulated GTPase metalloprotein activator 1E [Gene - HGNC]
  • ZNG1F:Zn regulated GTPase metalloprotein activator 1F [Gene - HGNC]
  • ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
  • ANP32B:acidic nuclear phosphoprotein 32 family member B [Gene - OMIM - HGNC]
  • ACO1:aconitase 1 [Gene - OMIM - HGNC]
  • ABITRAM:actin binding transcription modulator [Gene - OMIM - HGNC]
  • ACTL7A:actin like 7A [Gene - OMIM - HGNC]
  • ACTL7B:actin like 7B [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • ALDH1B1:aldehyde dehydrogenase 1 family member B1 [Gene - OMIM - HGNC]
  • ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
  • ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
  • AMBP:alpha-1-microglobulin/bikunin precursor [Gene - OMIM - HGNC]
  • ALAD:aminolevulinate dehydratase [Gene - OMIM - HGNC]
  • AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANKS6:ankyrin repeat and sterile alpha motif domain containing 6 [Gene - OMIM - HGNC]
  • ANKRD18A:ankyrin repeat domain 18A [Gene - OMIM - HGNC]
  • ANKRD18B:ankyrin repeat domain 18B [Gene - OMIM - HGNC]
  • ANKRD20A1:ankyrin repeat domain 20 family member A1 [Gene - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • APTX:aprataxin [Gene - OMIM - HGNC]
  • AQP3:aquaporin 3 (Gill blood group) [Gene - OMIM - HGNC]
  • AQP7:aquaporin 7 [Gene - OMIM - HGNC]
  • ASPN:asporin [Gene - OMIM - HGNC]
  • ASTN2:astrotactin 2 [Gene - OMIM - HGNC]
  • ATOSB:atos homolog B [Gene - OMIM - HGNC]
  • B4GALT1:beta-1,4-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
  • CREB3:cAMP responsive element binding protein 3 [Gene - OMIM - HGNC]
  • CCIN:calicin [Gene - OMIM - HGNC]
  • CA9:carbonic anhydrase 9 [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
  • CARD19:caspase recruitment domain family member 19 [Gene - OMIM - HGNC]
  • CTNNAL1:catenin alpha like 1 [Gene - OMIM - HGNC]
  • CTSL:cathepsin L [Gene - OMIM - HGNC]
  • CTSV:cathepsin V [Gene - OMIM - HGNC]
  • CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]
  • CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
  • CDC26:cell division cycle 26 [Gene - OMIM - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CENPP:centromere protein P [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • CHMP5:charged multivesicular body protein 5 [Gene - OMIM - HGNC]
  • C9orf152:chromosome 9 open reading frame 152 [Gene - HGNC]
  • C9orf153:chromosome 9 open reading frame 153 [Gene - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf43:chromosome 9 open reading frame 43 [Gene - HGNC]
  • C9orf47:chromosome 9 open reading frame 47 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - OMIM - HGNC]
  • CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
  • CIMIP2B:ciliary microtubule inner protein 2B [Gene - HGNC]
  • CNTFR:ciliary neurotrophic factor receptor [Gene - OMIM - HGNC]
  • CLTA:clathrin light chain A [Gene - OMIM - HGNC]
  • CCDC107:coiled-coil domain containing 107 [Gene - HGNC]
  • CCDC180:coiled-coil domain containing 180 [Gene - HGNC]
  • COL15A1:collagen type XV alpha 1 chain [Gene - OMIM - HGNC]
  • COL27A1:collagen type XXVII alpha 1 chain [Gene - OMIM - HGNC]
  • CNTNAP3:contactin associated protein family member 3 [Gene - OMIM - HGNC]
  • CNTNAP3B:contactin associated protein family member 3B [Gene - HGNC]
  • CORO2A:coronin 2A [Gene - OMIM - HGNC]
  • CDK20:cyclin dependent kinase 20 [Gene - OMIM - HGNC]
  • CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
  • CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
  • CYLC2:cylicin 2 [Gene - OMIM - HGNC]
  • DAPK1:death associated protein kinase 1 [Gene - OMIM - HGNC]
  • DELEC1:deleted in esophageal cancer 1 [Gene - OMIM - HGNC]
  • DCTN3:dynactin subunit 3 [Gene - OMIM - HGNC]
  • DNAI1:dynein axonemal intermediate chain 1 [Gene - OMIM - HGNC]
  • ELP1:elongator acetyltransferase complex subunit 1 [Gene - OMIM - HGNC]
  • ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • ENHO:energy homeostasis associated [Gene - OMIM - HGNC]
  • EQTN:equatorin [Gene - OMIM - HGNC]
  • EPB41L4B:erythrocyte membrane protein band 4.1 like 4B [Gene - OMIM - HGNC]
  • EXOSC3:exosome component 3 [Gene - OMIM - HGNC]
  • ECM2:extracellular matrix protein 2 [Gene - OMIM - HGNC]
  • FAM120AOS:family with sequence similarity 120 member A opposite strand [Gene - HGNC]
  • FAM120A:family with sequence similarity 120 member A [Gene - OMIM - HGNC]
  • FAM219A:family with sequence similarity 219 member A [Gene - HGNC]
  • FAM221B:family with sequence similarity 221 member B [Gene - HGNC]
  • FAM27D1:family with sequence similarity 27 member D1 [Gene - HGNC]
  • FRRS1L:ferric chelate reductase 1 like [Gene - OMIM - HGNC]
  • FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
  • FOCAD:focadhesin [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FOXD4L3:forkhead box D4 like 3 [Gene - OMIM - HGNC]
  • FOXD4L4:forkhead box D4 like 4 [Gene - OMIM - HGNC]
  • FOXD4L5:forkhead box D4 like 5 [Gene - HGNC]
  • FOXD4L6:forkhead box D4 like 6 [Gene - HGNC]
  • FOXE1:forkhead box E1 [Gene - OMIM - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
  • FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
  • FKTN:fukutin [Gene - OMIM - HGNC]
  • GALT:galactose-1-phosphate uridylyltransferase [Gene - OMIM - HGNC]
  • GABBR2:gamma-aminobutyric acid type B receptor subunit 2 [Gene - OMIM - HGNC]
  • GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GBA2:glucosylceramidase beta 2 [Gene - OMIM - HGNC]
  • GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
  • GRHPR:glyoxylate and hydroxypyruvate reductase [Gene - OMIM - HGNC]
  • GOLM1:golgi membrane protein 1 [Gene - OMIM - HGNC]
  • GADD45G:growth arrest and DNA damage inducible gamma [Gene - OMIM - HGNC]
  • GAS1:growth arrest specific 1 [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • HDHD3:haloacid dehalogenase like hydrolase domain containing 3 [Gene - HGNC]
  • HEMGN:hemogen [Gene - OMIM - HGNC]
  • HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
  • HRCT1:histidine rich carboxyl terminus 1 [Gene - HGNC]
  • HINT2:histidine triad nucleotide binding protein 2 [Gene - OMIM - HGNC]
  • HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
  • HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
  • HSDL2:hydroxysteroid dehydrogenase like 2 [Gene - HGNC]
  • IPPK:inositol-pentakisphosphate 2-kinase [Gene - OMIM - HGNC]
  • IGFBPL1:insulin like growth factor binding protein like 1 [Gene - OMIM - HGNC]
  • IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
  • IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
  • IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
  • IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
  • IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
  • IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
  • IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
  • IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
  • IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
  • IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
  • IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
  • IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
  • IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
  • IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
  • IFNE:interferon epsilon [Gene - OMIM - HGNC]
  • IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
  • IL11RA:interleukin 11 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
  • INVS:inversin [Gene - OMIM - HGNC]
  • ISCA1:iron-sulfur cluster assembly 1 [Gene - OMIM - HGNC]
  • IARS1:isoleucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
  • KIF12:kinesin family member 12 [Gene - OMIM - HGNC]
  • KIF24:kinesin family member 24 [Gene - OMIM - HGNC]
  • KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
  • LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
  • LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
  • LINC02872:long intergenic non-protein coding RNA 2872 [Gene - HGNC]
  • LINC00537:long intergenic non-protein coding RNA 537 [Gene - HGNC]
  • LPAR1:lysophosphatidic acid receptor 1 [Gene - OMIM - HGNC]
  • MFSD14B:major facilitator superfamily domain containing 14B [Gene - OMIM - HGNC]
  • MELK:maternal embryonic leucine zipper kinase [Gene - OMIM - HGNC]
  • MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • MIR23B:microRNA 23b [Gene - OMIM - HGNC]
  • MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
  • MIR27B:microRNA 27b [Gene - OMIM - HGNC]
  • MIR31:microRNA 31 [Gene - OMIM - HGNC]
  • MIR32:microRNA 32 [Gene - OMIM - HGNC]
  • MIR7-1:microRNA 7-1 [Gene - OMIM - HGNC]
  • MIRLET7A1:microRNA let-7a-1 [Gene - OMIM - HGNC]
  • MIRLET7D:microRNA let-7d [Gene - OMIM - HGNC]
  • MIRLET7F1:microRNA let-7f-1 [Gene - OMIM - HGNC]
  • MSMP:microseminoprotein, prostate associated [Gene - OMIM - HGNC]
  • MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
  • MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]
  • MYORG:myogenesis regulating glycosidase [Gene - OMIM - HGNC]
  • NPR2:natriuretic peptide receptor 2 [Gene - OMIM - HGNC]
  • NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • NINJ1:ninjurin 1 [Gene - OMIM - HGNC]
  • NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
  • NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]
  • NCBP1:nuclear cap binding protein subunit 1 [Gene - OMIM - HGNC]
  • NFIL3:nuclear factor, interleukin 3 regulated [Gene - OMIM - HGNC]
  • NR4A3:nuclear receptor subfamily 4 group A member 3 [Gene - OMIM - HGNC]
  • NFX1:nuclear transcription factor, X-box binding 1 [Gene - OMIM - HGNC]
  • NOL6:nucleolar protein 6 [Gene - OMIM - HGNC]
  • NOL8:nucleolar protein 8 [Gene - OMIM - HGNC]
  • NXNL2:nucleoredoxin like 2 [Gene - OMIM - HGNC]
  • NUDT2:nudix hydrolase 2 [Gene - OMIM - HGNC]
  • OR13C2:olfactory receptor family 13 subfamily C member 2 [Gene - HGNC]
  • OR13C3:olfactory receptor family 13 subfamily C member 3 [Gene - HGNC]
  • OR13C4:olfactory receptor family 13 subfamily C member 4 [Gene - HGNC]
  • OR13C5:olfactory receptor family 13 subfamily C member 5 [Gene - HGNC]
  • OR13C8:olfactory receptor family 13 subfamily C member 8 [Gene - HGNC]
  • OR13C9:olfactory receptor family 13 subfamily C member 9 [Gene - HGNC]
  • OR13D1:olfactory receptor family 13 subfamily D member 1 [Gene - HGNC]
  • OR13F1:olfactory receptor family 13 subfamily F member 1 [Gene - HGNC]
  • OR13J1:olfactory receptor family 13 subfamily J member 1 [Gene - HGNC]
  • OR2K2:olfactory receptor family 2 subfamily K member 2 [Gene - HGNC]
  • OR2S2:olfactory receptor family 2 subfamily S member 2 [Gene - HGNC]
  • ORM1:orosomucoid 1 [Gene - OMIM - HGNC]
  • ORM2:orosomucoid 2 [Gene - OMIM - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • OGN:osteoglycin [Gene - OMIM - HGNC]
  • OMD:osteomodulin [Gene - OMIM - HGNC]
  • PAX5:paired box 5 [Gene - OMIM - HGNC]
  • PAPPA:pappalysin 1 [Gene - OMIM - HGNC]
  • PALM2:paralemmin 2 [Gene - HGNC]
  • PTCH1:patched 1 [Gene - OMIM - HGNC]
  • PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
  • PIGO:phosphatidylinositol glycan anchor biosynthesis class O [Gene - OMIM - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
  • PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • GALNT12:polypeptide N-acetylgalactosaminyltransferase 12 [Gene - OMIM - HGNC]
  • PTBP3:polypyrimidine tract binding protein 3 [Gene - OMIM - HGNC]
  • PGAP4:post-GPI attachment to proteins GalNAc transferase 4 [Gene - OMIM - HGNC]
  • PRPF4:pre-mRNA splicing tri-snRNP complex factor PRPF4 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PTGR1:prostaglandin reductase 1 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
  • PTPDC1:protein tyrosine phosphatase domain containing 1 [Gene - HGNC]
  • PTPN3:protein tyrosine phosphatase non-receptor type 3 [Gene - OMIM - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
  • RGS3:regulator of G protein signaling 3 [Gene - OMIM - HGNC]
  • RECK:reversion inducing cysteine rich protein with kazal motifs [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • RPP25L:ribonuclease P/MRP subunit p25 like [Gene - HGNC]
  • RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
  • RNF183:ring finger protein 183 [Gene - HGNC]
  • RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
  • RNF38:ring finger protein 38 [Gene - OMIM - HGNC]
  • SEMA4D:semaphorin 4D [Gene - OMIM - HGNC]
  • SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
  • SPINK4:serine peptidase inhibitor Kazal type 4 [Gene - OMIM - HGNC]
  • PRSS3:serine protease 3 [Gene - OMIM - HGNC]
  • PRSS47:serine protease 47 [Gene - HGNC]
  • SHOC1:shortage in chiasmata 1 [Gene - OMIM - HGNC]
  • SIGMAR1:sigma non-opioid intracellular receptor 1 [Gene - OMIM - HGNC]
  • SIT1:signaling threshold regulating transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
  • SLC25A51:solute carrier family 25 member 51 [Gene - OMIM - HGNC]
  • SLC28A3:solute carrier family 28 member 3 [Gene - OMIM - HGNC]
  • SLC31A1:solute carrier family 31 member 1 [Gene - OMIM - HGNC]
  • SLC31A2:solute carrier family 31 member 2 [Gene - OMIM - HGNC]
  • SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
  • SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
  • SLC46A2:solute carrier family 46 member 2 [Gene - OMIM - HGNC]
  • SNX30:sorting nexin family member 30 [Gene - HGNC]
  • SPAG8:sperm associated antigen 8 [Gene - OMIM - HGNC]
  • SPMIP6:sperm microtubule inner protein 6 [Gene - OMIM - HGNC]
  • S1PR3:sphingosine-1-phosphate receptor 3 [Gene - OMIM - HGNC]
  • SPIN1:spindlin 1 [Gene - OMIM - HGNC]
  • SYK:spleen associated tyrosine kinase [Gene - OMIM - HGNC]
  • STOML2:stomatin like 2 [Gene - OMIM - HGNC]
  • SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • SUSD1:sushi domain containing 1 [Gene - HGNC]
  • SUSD3:sushi domain containing 3 [Gene - OMIM - HGNC]
  • SVEP1:sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 [Gene - OMIM - HGNC]
  • STX17:syntaxin 17 [Gene - OMIM - HGNC]
  • TRMT10B:tRNA methyltransferase 10B [Gene - HGNC]
  • TRMO:tRNA methyltransferase O [Gene - HGNC]
  • TLN1:talin 1 [Gene - OMIM - HGNC]
  • TNC:tenascin C [Gene - OMIM - HGNC]
  • TUT7:terminal uridylyl transferase 7 [Gene - OMIM - HGNC]
  • TESK1:testis associated actin remodelling kinase 1 [Gene - OMIM - HGNC]
  • TEX10:testis expressed 10 [Gene - OMIM - HGNC]
  • TXNDC8:thioredoxin domain containing 8 [Gene - OMIM - HGNC]
  • TXN:thioredoxin [Gene - OMIM - HGNC]
  • TSTD2:thiosulfate sulfurtransferase like domain containing 2 [Gene - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TGFBR1:transforming growth factor beta receptor 1 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TOMM5:translocase of outer mitochondrial membrane 5 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM215:transmembrane protein 215 [Gene - HGNC]
  • TMEM245:transmembrane protein 245 [Gene - OMIM - HGNC]
  • TMEM252:transmembrane protein 252 [Gene - HGNC]
  • TMEM268:transmembrane protein 268 [Gene - HGNC]
  • TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
  • TMEM8B:transmembrane protein 8B [Gene - OMIM - HGNC]
  • TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
  • TRIM14:tripartite motif containing 14 [Gene - OMIM - HGNC]
  • TRIM32:tripartite motif containing 32 [Gene - OMIM - HGNC]
  • TMOD1:tropomodulin 1 [Gene - OMIM - HGNC]
  • TPM2:tropomyosin 2 [Gene - OMIM - HGNC]
  • TDRD7:tudor domain containing 7 [Gene - OMIM - HGNC]
  • TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
  • UBQLN1:ubiquilin 1 [Gene - OMIM - HGNC]
  • UBAP1:ubiquitin associated protein 1 [Gene - OMIM - HGNC]
  • UBAP2:ubiquitin associated protein 2 [Gene - HGNC]
  • UBE2R2:ubiquitin conjugating enzyme E2 R2 [Gene - OMIM - HGNC]
  • UNC13B:unc-13 homolog B [Gene - OMIM - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • VCP:valosin containing protein [Gene - OMIM - HGNC]
  • WHRN:whirlin [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
  • ZCCHC7:zinc finger CCHC-type containing 7 [Gene - HGNC]
  • ZBTB5:zinc finger and BTB domain containing 5 [Gene - OMIM - HGNC]
  • ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
  • ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
  • ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
  • ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
  • ZNF483:zinc finger protein 483 [Gene - HGNC]
  • ZNF484:zinc finger protein 484 [Gene - HGNC]
  • ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
  • ZNF618:zinc finger protein 618 [Gene - OMIM - HGNC]
  • ZNF658:zinc finger protein 658 [Gene - OMIM - HGNC]
  • ZNF782:zinc finger protein 782 [Gene - HGNC]
  • ZNF883:zinc finger protein 883 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9p22.1-q33.1
Genomic location:
Chr9: 19356861 - 119513311 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)

Condition(s)

Name:
Distal tetrasomy 15q
Synonyms:
LEVY-SHANSKE SYNDROME; Tetrasomy 15q26
Identifiers:
MONDO: MONDO:0013918; MedGen: C3553858; Orphanet: 314585; Orphanet: 314588; OMIM: 614846

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002569043Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital
no assertion criteria provided
Uncertain significanceunknownclinical testing

Summary from all submissions

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

Details of each submission

From Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital, SCV002569043.1

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

Last Updated: Sep 1, 2024