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GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 31, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000415836.3

Allele description [Variation Report for GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3]

GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3

Genes:
  • HACD3:3-hydroxyacyl-CoA dehydratase 3 [Gene - OMIM - HGNC]
  • AKAP13:A-kinase anchoring protein 13 [Gene - OMIM - HGNC]
  • ADAMTS17:ADAM metallopeptidase with thrombospondin type 1 motif 17 [Gene - OMIM - HGNC]
  • ADAMTS7:ADAM metallopeptidase with thrombospondin type 1 motif 7 [Gene - OMIM - HGNC]
  • ADAMTSL3:ADAMTS like 3 [Gene - OMIM - HGNC]
  • ADPGK:ADP dependent glucokinase [Gene - OMIM - HGNC]
  • AGBL1:AGBL carboxypeptidase 1 [Gene - OMIM - HGNC]
  • ARPIN-AP3S2:ARPIN-AP3S2 readthrough [Gene - HGNC]
  • ARID3B:AT-rich interaction domain 3B [Gene - OMIM - HGNC]
  • BNIP2:BCL2 interacting protein 2 [Gene - OMIM - HGNC]
  • BCL2A1:BCL2 related protein A1 [Gene - OMIM - HGNC]
  • BLM:BLM RecQ like helicase [Gene - OMIM - HGNC]
  • BTBD1:BTB domain containing 1 [Gene - OMIM - HGNC]
  • BBS4:Bardet-Biedl syndrome 4 [Gene - OMIM - HGNC]
  • CSK:C-terminal Src kinase [Gene - OMIM - HGNC]
  • C2CD4A:C2 calcium dependent domain containing 4A [Gene - OMIM - HGNC]
  • C2CD4B:C2 calcium dependent domain containing 4B [Gene - OMIM - HGNC]
  • CD276:CD276 molecule [Gene - OMIM - HGNC]
  • CLK3:CDC like kinase 3 [Gene - OMIM - HGNC]
  • CLN6:CLN6 transmembrane ER protein [Gene - OMIM - HGNC]
  • COMMD4:COMM domain containing 4 [Gene - OMIM - HGNC]
  • CRTC3:CREB regulated transcription coactivator 3 [Gene - OMIM - HGNC]
  • CELF6:CUGBP Elav-like family member 6 [Gene - OMIM - HGNC]
  • DENND4A:DENN domain containing 4A [Gene - OMIM - HGNC]
  • DET1:DET1 partner of COP1 E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • DIS3L:DIS3 like exosome 3'-5' exoribonuclease [Gene - OMIM - HGNC]
  • POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
  • DNAJA4:DnaJ heat shock protein family (Hsp40) member A4 [Gene - HGNC]
  • FBXL22:F-box and leucine rich repeat protein 22 [Gene - OMIM - HGNC]
  • FBXO22:F-box protein 22 [Gene - OMIM - HGNC]
  • FANCI:FA complementation group I [Gene - OMIM - HGNC]
  • FES:FES proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
  • GDPGP1:GDP-D-glucose phosphorylase 1 [Gene - OMIM - HGNC]
  • GRAMD2A:GRAM domain containing 2A [Gene - OMIM - HGNC]
  • HDDC3:HD domain containing 3 [Gene - HGNC]
  • HERC1:HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 [Gene - OMIM - HGNC]
  • IMP3:IMP U3 small nucleolar ribonucleoprotein 3 [Gene - OMIM - HGNC]
  • IQGAP1:IQ motif containing GTPase activating protein 1 [Gene - OMIM - HGNC]
  • IQCH:IQ motif containing H [Gene - OMIM - HGNC]
  • ISL2:ISL LIM homeobox 2 [Gene - OMIM - HGNC]
  • LARP6:La ribonucleoprotein 6, translational regulator [Gene - OMIM - HGNC]
  • LYSMD4:LysM domain containing 4 [Gene - HGNC]
  • NOX5:NADPH oxidase 5 [Gene - OMIM - HGNC]
  • PCLAF:PCNA clamp associated factor [Gene - OMIM - HGNC]
  • PIF1:PIF1 5'-to-3' DNA helicase [Gene - OMIM - HGNC]
  • PML:PML nuclear body scaffold [Gene - OMIM - HGNC]
  • RAB11A:RAB11A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB8B:RAB8B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RORA:RAR related orphan receptor A [Gene - OMIM - HGNC]
  • RASL12:RAS like family 12 [Gene - HGNC]
  • RCCD1:RCC1 domain containing 1 [Gene - OMIM - HGNC]
  • REC114:REC114 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBPMS2:RNA binding protein, mRNA processing factor 2 [Gene - OMIM - HGNC]
  • RAMAC:RNA guanine-7 methyltransferase activating subunit [Gene - OMIM - HGNC]
  • RNU5A-1:RNA, U5A small nuclear 1 [Gene - OMIM - HGNC]
  • RNU6-1:RNA, U6 small nuclear 1 [Gene - OMIM - HGNC]
  • RASGRF1:Ras protein specific guanine nucleotide releasing factor 1 [Gene - OMIM - HGNC]
  • RHCG:Rh family C glycoprotein [Gene - OMIM - HGNC]
  • SCAPER:S-phase cyclin A associated protein in the ER [Gene - OMIM - HGNC]
  • SEC11A:SEC11 homolog A, signal peptidase complex subunit [Gene - OMIM - HGNC]
  • SH2D7:SH2 domain containing 7 [Gene - HGNC]
  • SH3GL3:SH3 domain containing GRB2 like 3, endophilin A3 [Gene - OMIM - HGNC]
  • SIN3A:SIN3 transcription regulator family member A [Gene - OMIM - HGNC]
  • SKOR1:SKI family transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • SKIC8:SKI8 subunit of superkiller complex [Gene - OMIM - HGNC]
  • SLC51B:SLC51 subunit beta [Gene - OMIM - HGNC]
  • SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
  • SMAD6:SMAD family member 6 [Gene - OMIM - HGNC]
  • SPG21:SPG21 abhydrolase domain containing, maspardin [Gene - OMIM - HGNC]
  • ST20-MTHFS:ST20-MTHFS readthrough [Gene - HGNC]
  • ST8SIA2:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 [Gene - OMIM - HGNC]
  • SENP8:SUMO peptidase family member, NEDD8 specific [Gene - OMIM - HGNC]
  • STARD5:StAR related lipid transfer domain containing 5 [Gene - OMIM - HGNC]
  • TBC1D21:TBC1 domain family member 21 [Gene - OMIM - HGNC]
  • TBC1D2B:TBC1 domain family member 2B [Gene - OMIM - HGNC]
  • THAP10:THAP domain containing 10 [Gene - OMIM - HGNC]
  • TIPIN:TIMELESS interacting protein [Gene - OMIM - HGNC]
  • TLE3:TLE family member 3, transcriptional corepressor [Gene - OMIM - HGNC]
  • TM2D3:TM2 domain containing 3 [Gene - OMIM - HGNC]
  • TICRR:TOPBP1 interacting checkpoint and replication regulator [Gene - OMIM - HGNC]
  • VPS33B:VPS33B late endosome and lysosome associated [Gene - OMIM - HGNC]
  • WHAMM:WASP homolog associated with actin, golgi membranes and microtubules [Gene - OMIM - HGNC]
  • WDR73:WD repeat domain 73 [Gene - OMIM - HGNC]
  • WDR93:WD repeat domain 93 [Gene - OMIM - HGNC]
  • ABHD17C:abhydrolase domain containing 17C, depalmitoylase [Gene - OMIM - HGNC]
  • ABHD2:abhydrolase domain containing 2, acylglycerol lipase [Gene - OMIM - HGNC]
  • ANP32A:acidic nuclear phosphoprotein 32 family member A [Gene - OMIM - HGNC]
  • ARPIN:actin related protein 2/3 complex inhibitor [Gene - OMIM - HGNC]
  • ACSBG1:acyl-CoA synthetase bubblegum family member 1 [Gene - OMIM - HGNC]
  • AP3B2:adaptor related protein complex 3 subunit beta 2 [Gene - OMIM - HGNC]
  • AP3S2:adaptor related protein complex 3 subunit sigma 2 [Gene - OMIM - HGNC]
  • ACAN:aggrecan [Gene - OMIM - HGNC]
  • ANPEP:alanyl aminopeptidase, membrane [Gene - OMIM - HGNC]
  • ALDH1A3:aldehyde dehydrogenase 1 family member A3 [Gene - OMIM - HGNC]
  • AAGAB:alpha and gamma adaptin binding protein [Gene - OMIM - HGNC]
  • ALPK3:alpha kinase 3 [Gene - OMIM - HGNC]
  • ASB7:ankyrin repeat and SOCS box containing 7 [Gene - OMIM - HGNC]
  • ANKDD1A:ankyrin repeat and death domain containing 1A [Gene - HGNC]
  • ANKRD34C:ankyrin repeat domain 34C [Gene - HGNC]
  • ANXA2:annexin A2 [Gene - OMIM - HGNC]
  • APH1B:aph-1 homolog B, gamma-secretase subunit [Gene - OMIM - HGNC]
  • AEN:apoptosis enhancing nuclease [Gene - OMIM - HGNC]
  • ARIH1:ariadne RBR E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • ARRDC4:arrestin domain containing 4 [Gene - OMIM - HGNC]
  • ARNT2:aryl hydrocarbon receptor nuclear translocator 2 [Gene - OMIM - HGNC]
  • BNC1:basonuclin zinc finger protein 1 [Gene - OMIM - HGNC]
  • CIB1:calcium and integrin binding 1 [Gene - OMIM - HGNC]
  • CIB2:calcium and integrin binding family member 2 [Gene - OMIM - HGNC]
  • CALML4:calmodulin like 4 [Gene - OMIM - HGNC]
  • CT62:cancer/testis associated 62 [Gene - HGNC]
  • CA12:carbonic anhydrase 12 [Gene - OMIM - HGNC]
  • CILP:cartilage intermediate layer protein [Gene - OMIM - HGNC]
  • CSNK1G1:casein kinase 1 gamma 1 [Gene - OMIM - HGNC]
  • CLPX:caseinolytic mitochondrial matrix peptidase chaperone subunit X [Gene - OMIM - HGNC]
  • CTSH:cathepsin H [Gene - OMIM - HGNC]
  • CEMIP:cell migration inducing hyaluronidase 1 [Gene - OMIM - HGNC]
  • CRABP1:cellular retinoic acid binding protein 1 [Gene - OMIM - HGNC]
  • CERS3:ceramide synthase 3 [Gene - OMIM - HGNC]
  • CHRNA3:cholinergic receptor nicotinic alpha 3 subunit [Gene - OMIM - HGNC]
  • CHRNA5:cholinergic receptor nicotinic alpha 5 subunit [Gene - OMIM - HGNC]
  • CHRNB4:cholinergic receptor nicotinic beta 4 subunit [Gene - OMIM - HGNC]
  • CSPG4:chondroitin sulfate proteoglycan 4 [Gene - OMIM - HGNC]
  • CHSY1:chondroitin sulfate synthase 1 [Gene - OMIM - HGNC]
  • CHD2:chromodomain helicase DNA binding protein 2 [Gene - OMIM - HGNC]
  • C15orf39:chromosome 15 open reading frame 39 [Gene - HGNC]
  • C15orf40:chromosome 15 open reading frame 40 [Gene - HGNC]
  • C15orf61:chromosome 15 open reading frame 61 [Gene - HGNC]
  • C15orf32:chromosome 15 putative open reading frame 32 [Gene - HGNC]
  • CFAP161:cilia and flagella associated protein 161 [Gene - HGNC]
  • CIMAP1C:ciliary microtubule associated protein 1C [Gene - HGNC]
  • CCDC33:coiled-coil domain containing 33 [Gene - OMIM - HGNC]
  • CPLX3:complexin 3 [Gene - OMIM - HGNC]
  • CORO2B:coronin 2B [Gene - OMIM - HGNC]
  • CCNB2:cyclin B2 [Gene - OMIM - HGNC]
  • CYP1A1:cytochrome P450 family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • CYP1A2:cytochrome P450 family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • CYP11A1:cytochrome P450 family 11 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX5A:cytochrome c oxidase subunit 5A [Gene - OMIM - HGNC]
  • CPEB1:cytoplasmic polyadenylation element binding protein 1 [Gene - OMIM - HGNC]
  • CIAO2A:cytosolic iron-sulfur assembly component 2A [Gene - OMIM - HGNC]
  • DAPK2:death associated protein kinase 2 [Gene - OMIM - HGNC]
  • DPP8:dipeptidyl peptidase 8 [Gene - OMIM - HGNC]
  • ETFA:electron transfer flavoprotein subunit alpha [Gene - OMIM - HGNC]
  • EFL1:elongation factor like GTPase 1 [Gene - OMIM - HGNC]
  • EDC3:enhancer of mRNA decapping 3 [Gene - OMIM - HGNC]
  • FAM174B:family with sequence similarity 174 member B [Gene - HGNC]
  • FAM219B:family with sequence similarity 219 member B [Gene - HGNC]
  • FAM81A:family with sequence similarity 81 member A [Gene - HGNC]
  • FEM1B:fem-1 homolog B [Gene - OMIM - HGNC]
  • FSD2:fibronectin type III and SPRY domain containing 2 [Gene - HGNC]
  • FOXB1:forkhead box B1 [Gene - OMIM - HGNC]
  • FAH:fumarylacetoacetate hydrolase [Gene - OMIM - HGNC]
  • FURIN:furin, paired basic amino acid cleaving enzyme [Gene - OMIM - HGNC]
  • GTF2A2:general transcription factor IIA subunit 2 [Gene - OMIM - HGNC]
  • GCNT3:glucosaminyl (N-acetyl) transferase 3, mucin type [Gene - OMIM - HGNC]
  • GLCE:glucuronic acid epimerase [Gene - OMIM - HGNC]
  • GOLGA6A:golgin A6 family member A [Gene - OMIM - HGNC]
  • GOLGA6B:golgin A6 family member B [Gene - HGNC]
  • GOLGA6C:golgin A6 family member C [Gene - HGNC]
  • GOLGA6D:golgin A6 family member D [Gene - HGNC]
  • HEXA:hexosaminidase subunit alpha [Gene - OMIM - HGNC]
  • HMG20A:high mobility group 20A [Gene - OMIM - HGNC]
  • HOMER2:homer scaffold protein 2 [Gene - OMIM - HGNC]
  • HAPLN3:hyaluronan and proteoglycan link protein 3 [Gene - HGNC]
  • HYKK:hydroxylysine kinase [Gene - OMIM - HGNC]
  • HCN4:hyperpolarization activated cyclic nucleotide gated potassium channel 4 [Gene - OMIM - HGNC]
  • IGDCC3:immunoglobulin superfamily DCC subclass member 3 [Gene - OMIM - HGNC]
  • IGDCC4:immunoglobulin superfamily DCC subclass member 4 [Gene - OMIM - HGNC]
  • ISLR2:immunoglobulin superfamily containing leucine rich repeat 2 [Gene - OMIM - HGNC]
  • ISLR:immunoglobulin superfamily containing leucine rich repeat [Gene - OMIM - HGNC]
  • INSYN1:inhibitory synaptic factor 1 [Gene - OMIM - HGNC]
  • IGF1R:insulin like growth factor 1 receptor [Gene - OMIM - HGNC]
  • INTS14:integrator complex subunit 14 [Gene - OMIM - HGNC]
  • ITGA11:integrin subunit alpha 11 [Gene - OMIM - HGNC]
  • ICE2:interactor of little elongation complex ELL subunit 2 [Gene - OMIM - HGNC]
  • ISG20:interferon stimulated exonuclease gene 20 [Gene - OMIM - HGNC]
  • IL16:interleukin 16 [Gene - OMIM - HGNC]
  • IREB2:iron responsive element binding protein 2 [Gene - OMIM - HGNC]
  • IDH3A:isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha [Gene - OMIM - HGNC]
  • IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]
  • KLHL25:kelch like family member 25 [Gene - OMIM - HGNC]
  • KBTBD13:kelch repeat and BTB domain containing 13 [Gene - OMIM - HGNC]
  • KIF23:kinesin family member 23 [Gene - OMIM - HGNC]
  • KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
  • LACTB:lactamase beta [Gene - OMIM - HGNC]
  • LCTL:lactase like [Gene - OMIM - HGNC]
  • LDHAL6B:lactate dehydrogenase A like 6B [Gene - HGNC]
  • LMAN1L:lectin, mannose binding 1 like [Gene - OMIM - HGNC]
  • LINGO1:leucine rich repeat and Ig domain containing 1 [Gene - OMIM - HGNC]
  • LRRC28:leucine rich repeat containing 28 [Gene - HGNC]
  • LRRC49:leucine rich repeat containing 49 [Gene - OMIM - HGNC]
  • LRRK1:leucine rich repeat kinase 1 [Gene - OMIM - HGNC]
  • LINS1:lines homolog 1 [Gene - OMIM - HGNC]
  • LINC00928:long intergenic non-protein coding RNA 928 [Gene - HGNC]
  • LOXL1:lysyl oxidase like 1 [Gene - OMIM - HGNC]
  • MPI:mannose phosphate isomerase [Gene - OMIM - HGNC]
  • MAN2A2:mannosidase alpha class 2A member 2 [Gene - OMIM - HGNC]
  • MAN2C1:mannosidase alpha class 2C member 1 [Gene - OMIM - HGNC]
  • MINAR1:membrane integral NOTCH2 associated receptor 1 [Gene - OMIM - HGNC]
  • MESD:mesoderm development LRP chaperone [Gene - OMIM - HGNC]
  • MESP1:mesoderm posterior bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • MESP2:mesoderm posterior bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • MTHFS:methenyltetrahydrofolate synthetase [Gene - OMIM - HGNC]
  • MEX3B:mex-3 RNA binding family member B [Gene - OMIM - HGNC]
  • MIR184:microRNA 184 [Gene - OMIM - HGNC]
  • MIR9-3:microRNA 9-3 [Gene - OMIM - HGNC]
  • MFGE8:milk fat globule EGF and factor V/VIII domain containing [Gene - OMIM - HGNC]
  • MTFMT:mitochondrial methionyl-tRNA formyltransferase [Gene - OMIM - HGNC]
  • MRPL46:mitochondrial ribosomal protein L46 [Gene - OMIM - HGNC]
  • MRPS11:mitochondrial ribosomal protein S11 [Gene - OMIM - HGNC]
  • MAP2K1:mitogen-activated protein kinase kinase 1 [Gene - OMIM - HGNC]
  • MAP2K5:mitogen-activated protein kinase kinase 5 [Gene - OMIM - HGNC]
  • MORF4L1:mortality factor 4 like 1 [Gene - OMIM - HGNC]
  • MCTP2:multiple C2 and transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • MEGF11:multiple EGF like domains 11 [Gene - OMIM - HGNC]
  • MEF2A:myocyte enhancer factor 2A [Gene - OMIM - HGNC]
  • MYO1E:myosin IE [Gene - OMIM - HGNC]
  • MYO9A:myosin IXA [Gene - OMIM - HGNC]
  • NEIL1:nei like DNA glycosylase 1 [Gene - OMIM - HGNC]
  • NEO1:neogenin 1 [Gene - OMIM - HGNC]
  • NGRN:neugrin, neurite outgrowth associated [Gene - OMIM - HGNC]
  • NRG4:neuregulin 4 [Gene - OMIM - HGNC]
  • NMB:neuromedin B [Gene - OMIM - HGNC]
  • NPTN:neuroplastin [Gene - OMIM - HGNC]
  • NTRK3:neurotrophic receptor tyrosine kinase 3 [Gene - OMIM - HGNC]
  • NR2E3:nuclear receptor subfamily 2 group E member 3 [Gene - OMIM - HGNC]
  • NR2F2:nuclear receptor subfamily 2 group F member 2 [Gene - OMIM - HGNC]
  • OR4F15:olfactory receptor family 4 subfamily F member 15 [Gene - HGNC]
  • OR4F4:olfactory receptor family 4 subfamily F member 4 [Gene - HGNC]
  • OR4F6:olfactory receptor family 4 subfamily F member 6 [Gene - HGNC]
  • OAZ2:ornithine decarboxylase antizyme 2 [Gene - OMIM - HGNC]
  • PPIB:peptidylprolyl isomerase B [Gene - OMIM - HGNC]
  • PLIN1:perilipin 1 [Gene - OMIM - HGNC]
  • PEX11A:peroxisomal biogenesis factor 11 alpha [Gene - OMIM - HGNC]
  • PDE8A:phosphodiesterase 8A [Gene - OMIM - HGNC]
  • PPCDC:phosphopantothenoylcysteine decarboxylase [Gene - OMIM - HGNC]
  • PLEKHO2:pleckstrin homology domain containing O2 [Gene - HGNC]
  • PARP16:poly(ADP-ribose) polymerase family member 16 [Gene - OMIM - HGNC]
  • PARP6:poly(ADP-ribose) polymerase family member 6 [Gene - OMIM - HGNC]
  • PAQR5:progestin and adipoQ receptor family member 5 [Gene - OMIM - HGNC]
  • PDCD7:programmed cell death 7 [Gene - OMIM - HGNC]
  • PSTPIP1:proline-serine-threonine phosphatase interacting protein 1 [Gene - OMIM - HGNC]
  • PCSK6:proprotein convertase subtilisin/kexin type 6 [Gene - OMIM - HGNC]
  • PSMA4:proteasome 20S subunit alpha 4 [Gene - OMIM - HGNC]
  • PIAS1:protein inhibitor of activated STAT 1 [Gene - OMIM - HGNC]
  • PRC1:protein regulator of cytokinesis 1 [Gene - OMIM - HGNC]
  • PTPN9:protein tyrosine phosphatase non-receptor type 9 [Gene - OMIM - HGNC]
  • PEAK1:pseudopodium enriched atypical kinase 1 [Gene - OMIM - HGNC]
  • PGPEP1L:pyroglutamyl-peptidase I like [Gene - HGNC]
  • PKM:pyruvate kinase M1/2 [Gene - OMIM - HGNC]
  • RGMA:repulsive guidance molecule BMP co-receptor a [Gene - OMIM - HGNC]
  • RCN2:reticulocalbin 2 [Gene - OMIM - HGNC]
  • RLBP1:retinaldehyde binding protein 1 [Gene - OMIM - HGNC]
  • RPP25:ribonuclease P and MRP subunit p25 [Gene - OMIM - HGNC]
  • RPL4:ribosomal protein L4 [Gene - OMIM - HGNC]
  • RPS17:ribosomal protein S17 [Gene - OMIM - HGNC]
  • RPS27L:ribosomal protein S27 like [Gene - OMIM - HGNC]
  • RPLP1:ribosomal protein lateral stalk subunit P1 [Gene - OMIM - HGNC]
  • RNF111:ring finger protein 111 [Gene - OMIM - HGNC]
  • SCAMP2:secretory carrier membrane protein 2 [Gene - OMIM - HGNC]
  • SCAMP5:secretory carrier membrane protein 5 [Gene - OMIM - HGNC]
  • SELENOS:selenoprotein S [Gene - OMIM - HGNC]
  • SEMA4B:semaphorin 4B [Gene - OMIM - HGNC]
  • SEMA7A:semaphorin 7A (JohnMiltonHagen blood group) [Gene - OMIM - HGNC]
  • STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]
  • SCARNA15:small Cajal body-specific RNA 15 [Gene - OMIM - HGNC]
  • SNAPC5:small nuclear RNA activating complex polypeptide 5 [Gene - OMIM - HGNC]
  • SNRPA1:small nuclear ribonucleoprotein polypeptide A' [Gene - OMIM - HGNC]
  • SNUPN:snurportin 1 [Gene - OMIM - HGNC]
  • SLC24A1:solute carrier family 24 member 1 [Gene - OMIM - HGNC]
  • SLC28A1:solute carrier family 28 member 1 [Gene - OMIM - HGNC]
  • SLCO3A1:solute carrier organic anion transporter family member 3A1 [Gene - OMIM - HGNC]
  • SNX1:sorting nexin 1 [Gene - OMIM - HGNC]
  • SNX22:sorting nexin 22 [Gene - HGNC]
  • SNX33:sorting nexin 33 [Gene - OMIM - HGNC]
  • SPESP1:sperm equatorial segment protein 1 [Gene - OMIM - HGNC]
  • SPATA8:spermatogenesis associated 8 [Gene - OMIM - HGNC]
  • SAXO2:stabilizer of axonemal microtubules 2 [Gene - HGNC]
  • STOML1:stomatin like 1 [Gene - OMIM - HGNC]
  • ST20:suppressor of tumorigenicity 20 [Gene - HGNC]
  • SV2B:synaptic vesicle glycoprotein 2B [Gene - OMIM - HGNC]
  • SYNM:synemin [Gene - OMIM - HGNC]
  • TLN2:talin 2 [Gene - OMIM - HGNC]
  • TLNRD1:talin rod domain containing 1 [Gene - OMIM - HGNC]
  • TSPAN3:tetraspanin 3 [Gene - OMIM - HGNC]
  • TTC23:tetratricopeptide repeat domain 23 [Gene - HGNC]
  • TARS3:threonyl-tRNA synthetase 3 [Gene - HGNC]
  • THSD4:thrombospondin type 1 domain containing 4 [Gene - OMIM - HGNC]
  • TRIP4:thyroid hormone receptor interactor 4 [Gene - OMIM - HGNC]
  • TM6SF1:transmembrane 6 superfamily member 1 [Gene - OMIM - HGNC]
  • TMC3:transmembrane channel like 3 [Gene - OMIM - HGNC]
  • TMED3:transmembrane p24 trafficking protein 3 [Gene - OMIM - HGNC]
  • TMEM202:transmembrane protein 202 [Gene - HGNC]
  • TMEM266:transmembrane protein 266 [Gene - OMIM - HGNC]
  • TPM1:tropomyosin 1 [Gene - OMIM - HGNC]
  • UBAP1L:ubiquitin associated protein 1 like [Gene - HGNC]
  • UBE2Q2:ubiquitin conjugating enzyme E2 Q2 [Gene - OMIM - HGNC]
  • UBL7:ubiquitin like 7 [Gene - OMIM - HGNC]
  • USP3:ubiquitin specific peptidase 3 [Gene - OMIM - HGNC]
  • UNC45A:unc-45 myosin chaperone A [Gene - OMIM - HGNC]
  • ULK3:unc-51 like kinase 3 [Gene - OMIM - HGNC]
  • UACA:uveal autoantigen with coiled-coil domains and ankyrin repeats [Gene - OMIM - HGNC]
  • VPS13C:vacuolar protein sorting 13 homolog C [Gene - OMIM - HGNC]
  • ZFAND6:zinc finger AN1-type containing 6 [Gene - OMIM - HGNC]
  • ZSCAN2:zinc finger and SCAN domain containing 2 [Gene - HGNC]
  • ZNF592:zinc finger protein 592 [Gene - OMIM - HGNC]
  • ZNF609:zinc finger protein 609 [Gene - OMIM - HGNC]
  • ZNF710:zinc finger protein 710 [Gene - HGNC]
  • ZNF774:zinc finger protein 774 [Gene - HGNC]
  • ZWILCH:zwilch kinetochore protein [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q22.1-26.3
Genomic location:
Chr15: 59297293 - 102480888 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000484660CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (Praxis fuer Humangenetik Tuebingen - Variant Classification Criteria)    		Likely pathogenic
    (Jul 31, 2016)     		germlineclinical testing

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    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV000484660.7

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Sep 1, 2024