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GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2014
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:
RCV000510832.3

Allele description [Variation Report for GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3]

GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3

Genes:
  • XRN2:5'-3' exoribonuclease 2 [Gene - OMIM - HGNC]
  • AAR2:AAR2 splicing factor [Gene - OMIM - HGNC]
  • ADAM33:ADAM metallopeptidase domain 33 [Gene - OMIM - HGNC]
  • ARFGAP1:ADP ribosylation factor GTPase activating protein 1 [Gene - OMIM - HGNC]
  • ARFGEF2:ADP ribosylation factor guanine nucleotide exchange factor 2 [Gene - OMIM - HGNC]
  • ARFRP1:ADP ribosylation factor related protein 1 [Gene - OMIM - HGNC]
  • ADRM1:ADRM1 26S proteasome ubiquitin receptor [Gene - OMIM - HGNC]
  • APCDD1L:APC down-regulated 1 like [Gene - HGNC]
  • ASXL1:ASXL transcriptional regulator 1 [Gene - OMIM - HGNC]
  • ATP5F1E:ATP synthase F1 subunit epsilon [Gene - OMIM - HGNC]
  • ATP9A:ATPase phospholipid transporting 9A (putative) [Gene - OMIM - HGNC]
  • BANF2:BANF family member 2 [Gene - HGNC]
  • BCL2L1:BCL2 like 1 [Gene - OMIM - HGNC]
  • BLCAP:BLCAP apoptosis inducing factor [Gene - OMIM - HGNC]
  • BPIFA1:BPI fold containing family A member 1 [Gene - OMIM - HGNC]
  • BPIFA2:BPI fold containing family A member 2 [Gene - HGNC]
  • BPIFA3:BPI fold containing family A member 3 [Gene - HGNC]
  • BPIFB1:BPI fold containing family B member 1 [Gene - HGNC]
  • BPIFB2:BPI fold containing family B member 2 [Gene - OMIM - HGNC]
  • BPIFB3:BPI fold containing family B member 3 [Gene - OMIM - HGNC]
  • BPIFB4:BPI fold containing family B member 4 [Gene - OMIM - HGNC]
  • BPIFB6:BPI fold containing family B member 6 [Gene - OMIM - HGNC]
  • BTBD3:BTB domain containing 3 [Gene - OMIM - HGNC]
  • CBFA2T2:CBFA2/RUNX1 partner transcriptional co-repressor 2 [Gene - OMIM - HGNC]
  • CEBPB:CCAAT enhancer binding protein beta [Gene - OMIM - HGNC]
  • CTCFL:CCCTC-binding factor like [Gene - OMIM - HGNC]
  • CCM2L:CCM2 like scaffold protein [Gene - HGNC]
  • CD40:CD40 molecule [Gene - OMIM - HGNC]
  • CD93:CD93 molecule [Gene - OMIM - HGNC]
  • CDK5RAP1:CDK5 regulatory subunit associated protein 1 [Gene - OMIM - HGNC]
  • CDS2:CDP-diacylglycerol synthase 2 [Gene - OMIM - HGNC]
  • COMMD7:COMM domain containing 7 [Gene - OMIM - HGNC]
  • CASS4:Cas scaffold protein family member 4 [Gene - OMIM - HGNC]
  • CABLES2:Cdk5 and Abl enzyme substrate 2 [Gene - OMIM - HGNC]
  • DTD1:D-aminoacyl-tRNA deacylase 1 [Gene - OMIM - HGNC]
  • DDRGK1:DDRGK domain containing 1 [Gene - OMIM - HGNC]
  • DDX27:DEAD-box helicase 27 [Gene - OMIM - HGNC]
  • DHX35:DEAH-box helicase 35 [Gene - HGNC]
  • DLGAP4:DLG associated protein 4 [Gene - OMIM - HGNC]
  • DNMT3B:DNA methyltransferase 3 beta [Gene - OMIM - HGNC]
  • TOP1:DNA topoisomerase I [Gene - OMIM - HGNC]
  • DSN1:DSN1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
  • DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
  • E2F1:E2F transcription factor 1 [Gene - OMIM - HGNC]
  • EBF4:EBF family member 4 [Gene - OMIM - HGNC]
  • EFCAB8:EF-hand calcium binding domain 8 [Gene - HGNC]
  • EPPIN-WFDC6:EPPIN-WFDC6 readthrough [Gene - HGNC]
  • EDEM2:ER degradation enhancing alpha-mannosidase like protein 2 [Gene - OMIM - HGNC]
  • ERGIC3:ERGIC and golgi 3 [Gene - OMIM - HGNC]
  • ESF1:ESF1 nucleolar pre-rRNA processing protein homolog [Gene - OMIM - HGNC]
  • EYA2:EYA transcriptional coactivator and phosphatase 2 [Gene - OMIM - HGNC]
  • FASTKD5:FAST kinase domains 5 [Gene - OMIM - HGNC]
  • FERMT1:FERM domain containing kindlin 1 [Gene - OMIM - HGNC]
  • FKBP1A:FKBP prolyl isomerase 1A [Gene - OMIM - HGNC]
  • GATA5:GATA binding protein 5 [Gene - OMIM - HGNC]
  • GDF5-AS1:GDF5 antisense RNA 1 [Gene - HGNC]
  • GFRA4:GDNF family receptor alpha 4 [Gene - OMIM - HGNC]
  • GZF1:GDNF inducible zinc finger protein 1 [Gene - OMIM - HGNC]
  • GID8:GID complex subunit 8 homolog [Gene - OMIM - HGNC]
  • GINS1:GINS complex subunit 1 [Gene - OMIM - HGNC]
  • GNAS-AS1:GNAS antisense RNA 1 [Gene - OMIM - HGNC]
  • GNAS:GNAS complex locus [Gene - OMIM - HGNC]
  • HCK:HCK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • INSM1:INSM transcriptional repressor 1 [Gene - OMIM - HGNC]
  • KIAA1755:KIAA1755 [Gene - HGNC]
  • L3MBTL1:L3MBTL histone methyl-lysine binding protein 1 [Gene - OMIM - HGNC]
  • LKAAEAR1:LKAAEAR motif containing 1 [Gene - HGNC]
  • LSM14B:LSM family member 14B [Gene - OMIM - HGNC]
  • LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • MAFB:MAF bZIP transcription factor B [Gene - OMIM - HGNC]
  • MIR1-1HG:MIR1-1 host gene [Gene - HGNC]
  • MKKS:MKKS centrosomal shuttling protein [Gene - OMIM - HGNC]
  • MRGBP:MRG domain binding protein [Gene - OMIM - HGNC]
  • MTRNR2L3:MT-RNR2 like 3 [Gene - HGNC]
  • MYBL2:MYB proto-oncogene like 2 [Gene - OMIM - HGNC]
  • NANP:N-acetylneuraminic acid phosphatase [Gene - OMIM - HGNC]
  • NAA20:N-alpha-acetyltransferase 20, NatB catalytic subunit [Gene - OMIM - HGNC]
  • NECAB3:N-terminal EF-hand calcium binding protein 3 [Gene - OMIM - HGNC]
  • NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
  • NDRG3:NDRG family member 3 [Gene - OMIM - HGNC]
  • NFS1:NFS1 cysteine desulfurase [Gene - OMIM - HGNC]
  • NKX2-2:NK2 homeobox 2 [Gene - OMIM - HGNC]
  • NKX2-4:NK2 homeobox 4 [Gene - OMIM - HGNC]
  • NOP56:NOP56 ribonucleoprotein [Gene - OMIM - HGNC]
  • NAPB:NSF attachment protein beta [Gene - OMIM - HGNC]
  • NSFL1C:NSFL1 cofactor [Gene - OMIM - HGNC]
  • PCED1A:PC-esterase domain containing 1A [Gene - HGNC]
  • PCNA-AS1:PCNA antisense RNA 1 [Gene - HGNC]
  • PEDS1-UBE2V1:PEDS1-UBE2V1 readthrough [Gene - HGNC]
  • PET117:PET117 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
  • PHF20:PHD finger protein 20 [Gene - OMIM - HGNC]
  • PLAGL2:PLAG1 like zinc finger 2 [Gene - OMIM - HGNC]
  • PRELID3B:PRELI domain containing 3B [Gene - OMIM - HGNC]
  • RSPO4:R-spondin 4 [Gene - OMIM - HGNC]
  • R3HDML:R3H domain containing like [Gene - HGNC]
  • RAB22A:RAB22A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB5IF:RAB5 interacting factor [Gene - OMIM - HGNC]
  • RAD21L1:RAD21 cohesin complex component like 1 [Gene - OMIM - HGNC]
  • RALY:RALY heterogeneous nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • RBCK1:RANBP2-type and C3HC4-type zinc finger containing 1 [Gene - OMIM - HGNC]
  • RBBP9:RB binding protein 9, serine hydrolase [Gene - OMIM - HGNC]
  • RBL1:RB transcriptional corepressor like 1 [Gene - OMIM - HGNC]
  • RBBP8NL:RBBP8 N-terminal like [Gene - HGNC]
  • RIPOR3:RIPOR family member 3 [Gene - HGNC]
  • RBM12:RNA binding motif protein 12 [Gene - OMIM - HGNC]
  • RBM38:RNA binding motif protein 38 [Gene - OMIM - HGNC]
  • RBM39:RNA binding motif protein 39 [Gene - OMIM - HGNC]
  • POLR3F:RNA polymerase III subunit F [Gene - OMIM - HGNC]
  • REM1:RRAD and GEM like GTPase 1 [Gene - OMIM - HGNC]
  • RALGAPA2:Ral GTPase activating protein catalytic subunit alpha 2 [Gene - OMIM - HGNC]
  • RALGAPB:Ral GTPase activating protein non-catalytic subunit beta [Gene - OMIM - HGNC]
  • RIN2:Ras and Rab interactor 2 [Gene - OMIM - HGNC]
  • RASSF2:Ras association domain family member 2 [Gene - OMIM - HGNC]
  • ARHGAP40:Rho GTPase activating protein 40 [Gene - HGNC]
  • SAMHD1:SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [Gene - OMIM - HGNC]
  • SCAND1:SCAN domain containing 1 [Gene - OMIM - HGNC]
  • SCP2D1:SCP2 sterol binding domain containing 1 [Gene - HGNC]
  • SCP2D1-AS1:SCP2D1 antisense RNA 1 [Gene - HGNC]
  • SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
  • SEL1L2:SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase [Gene - OMIM - HGNC]
  • SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
  • SLX4IP:SLX4 interacting protein [Gene - OMIM - HGNC]
  • SPO11:SPO11 initiator of meiotic double strand breaks [Gene - OMIM - HGNC]
  • SRC:SRC proto-oncogene, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • SOX12:SRY-box transcription factor 12 [Gene - OMIM - HGNC]
  • SOX18:SRY-box transcription factor 18 [Gene - OMIM - HGNC]
  • SS18L1:SS18L1 subunit of BAF chromatin remodeling complex [Gene - OMIM - HGNC]
  • SYS1:SYS1 golgi trafficking protein [Gene - OMIM - HGNC]
  • SUN5:Sad1 and UNC84 domain containing 5 [Gene - OMIM - HGNC]
  • SLA2:Src like adaptor 2 [Gene - OMIM - HGNC]
  • TAF4:TATA-box binding protein associated factor 4 [Gene - OMIM - HGNC]
  • TLDC2:TBC/LysM-associated domain containing 2 [Gene - HGNC]
  • TBC1D20:TBC1 domain family member 20 [Gene - OMIM - HGNC]
  • TTI1:TELO2 interacting protein 1 [Gene - OMIM - HGNC]
  • TGIF2:TGFB induced factor homeobox 2 [Gene - OMIM - HGNC]
  • TGIF2-RAB5IF:TGIF2-RAB5IF readthrough [Gene - HGNC]
  • TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
  • TOX2:TOX high mobility group box family member 2 [Gene - OMIM - HGNC]
  • TP53RK:TP53 regulating kinase [Gene - OMIM - HGNC]
  • TP53TG5:TP53 target 5 [Gene - OMIM - HGNC]
  • TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
  • TPX2:TPX2 microtubule nucleation factor [Gene - OMIM - HGNC]
  • UBOX5:U-box domain containing 5 [Gene - OMIM - HGNC]
  • VSTM2L:V-set and transmembrane domain containing 2 like [Gene - OMIM - HGNC]
  • VAPB:VAMP associated protein B and C [Gene - OMIM - HGNC]
  • VPS16:VPS16 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • WFDC10A:WAP four-disulfide core domain 10A [Gene - HGNC]
  • WFDC10B:WAP four-disulfide core domain 10B [Gene - HGNC]
  • WFDC11:WAP four-disulfide core domain 11 [Gene - HGNC]
  • WFDC12:WAP four-disulfide core domain 12 [Gene - OMIM - HGNC]
  • WFDC13:WAP four-disulfide core domain 13 [Gene - HGNC]
  • WFDC2:WAP four-disulfide core domain 2 [Gene - OMIM - HGNC]
  • WFDC3:WAP four-disulfide core domain 3 [Gene - HGNC]
  • WFDC5:WAP four-disulfide core domain 5 [Gene - OMIM - HGNC]
  • WFDC6:WAP four-disulfide core domain 6 [Gene - HGNC]
  • WFDC8:WAP four-disulfide core domain 8 [Gene - HGNC]
  • WFDC9:WAP four-disulfide core domain 9 [Gene - HGNC]
  • XKR7:XK related 7 [Gene - HGNC]
  • YTHDF1:YTH N6-methyladenosine RNA binding protein F1 [Gene - OMIM - HGNC]
  • ZBP1:Z-DNA binding protein 1 [Gene - OMIM - HGNC]
  • ZFP64:ZFP64 zinc finger protein [Gene - OMIM - HGNC]
  • ABHD12:abhydrolase domain containing 12, lysophospholipase [Gene - OMIM - HGNC]
  • ABHD16B:abhydrolase domain containing 16B [Gene - OMIM - HGNC]
  • ACTL10:actin like 10 [Gene - HGNC]
  • ACTR5:actin related protein 5 [Gene - OMIM - HGNC]
  • ADNP:activity dependent neuroprotector homeobox [Gene - OMIM - HGNC]
  • ACSS1:acyl-CoA synthetase short chain family member 1 [Gene - OMIM - HGNC]
  • ACSS2:acyl-CoA synthetase short chain family member 2 [Gene - OMIM - HGNC]
  • ACOT8:acyl-CoA thioesterase 8 [Gene - OMIM - HGNC]
  • AP5S1:adaptor related protein complex 5 subunit sigma 1 [Gene - OMIM - HGNC]
  • ADA:adenosine deaminase [Gene - OMIM - HGNC]
  • AHCY:adenosylhomocysteinase [Gene - OMIM - HGNC]
  • APMAP:adipocyte plasma membrane associated protein [Gene - OMIM - HGNC]
  • ADIG:adipogenin [Gene - OMIM - HGNC]
  • ADISSP:adipose secreted signaling protein [Gene - OMIM - HGNC]
  • ADRA1D:adrenoceptor alpha 1D [Gene - OMIM - HGNC]
  • ASIP:agouti signaling protein [Gene - OMIM - HGNC]
  • TTPAL:alpha tocopherol transfer protein like [Gene - HGNC]
  • NPEPL1:aminopeptidase like 1 [Gene - HGNC]
  • ANGPT4:angiopoietin 4 [Gene - OMIM - HGNC]
  • ANKEF1:ankyrin repeat and EF-hand domain containing 1 [Gene - HGNC]
  • ANKRD60:ankyrin repeat domain 60 [Gene - HGNC]
  • AVP:arginine vasopressin [Gene - OMIM - HGNC]
  • ATRN:attractin [Gene - OMIM - HGNC]
  • AURKA:aurora kinase A [Gene - OMIM - HGNC]
  • BPI:bactericidal permeability increasing protein [Gene - OMIM - HGNC]
  • BIRC7:baculoviral IAP repeat containing 7 [Gene - OMIM - HGNC]
  • BHLHE23:basic helix-loop-helix family member e23 [Gene - OMIM - HGNC]
  • BFSP1:beaded filament structural protein 1 [Gene - OMIM - HGNC]
  • B4GALT5:beta-1,4-galactosyltransferase 5 [Gene - OMIM - HGNC]
  • BMP2:bone morphogenetic protein 2 [Gene - OMIM - HGNC]
  • BMP7:bone morphogenetic protein 7 [Gene - OMIM - HGNC]
  • BCAS1:brain enriched myelin associated protein 1 [Gene - OMIM - HGNC]
  • BCAS4:breast carcinoma amplified sequence 4 [Gene - OMIM - HGNC]
  • PKIG:cAMP-dependent protein kinase inhibitor gamma [Gene - OMIM - HGNC]
  • CDH22:cadherin 22 [Gene - OMIM - HGNC]
  • CDH26:cadherin 26 [Gene - OMIM - HGNC]
  • CDH4:cadherin 4 [Gene - OMIM - HGNC]
  • CPXM1:carboxypeptidase X, M14 family member 1 [Gene - OMIM - HGNC]
  • CRLS1:cardiolipin synthase 1 [Gene - OMIM - HGNC]
  • CSNK2A1:casein kinase 2 alpha 1 [Gene - OMIM - HGNC]
  • CTNNBL1:catenin beta like 1 [Gene - OMIM - HGNC]
  • CTSA:cathepsin A [Gene - OMIM - HGNC]
  • CTSZ:cathepsin Z [Gene - OMIM - HGNC]
  • CDC25B:cell division cycle 25B [Gene - OMIM - HGNC]
  • CCN5:cellular communication network factor 5 [Gene - OMIM - HGNC]
  • CENPB:centromere protein B [Gene - OMIM - HGNC]
  • CEP250:centrosomal protein 250 [Gene - OMIM - HGNC]
  • CBLN4:cerebellin 4 precursor [Gene - OMIM - HGNC]
  • CHMP4B:charged multivesicular body protein 4B [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • CHD6:chromodomain helicase DNA binding protein 6 [Gene - OMIM - HGNC]
  • CHGB:chromogranin B [Gene - OMIM - HGNC]
  • C20orf141:chromosome 20 open reading frame 141 [Gene - HGNC]
  • C20orf144:chromosome 20 open reading frame 144 [Gene - HGNC]
  • C20orf173:chromosome 20 open reading frame 173 [Gene - HGNC]
  • C20orf202:chromosome 20 open reading frame 202 [Gene - HGNC]
  • C20orf203:chromosome 20 open reading frame 203 [Gene - HGNC]
  • C20orf96:chromosome 20 open reading frame 96 [Gene - HGNC]
  • CSE1L:chromosome segregation 1 like [Gene - OMIM - HGNC]
  • CFAP61:cilia and flagella associated protein 61 [Gene - OMIM - HGNC]
  • CIMIP1:ciliary microtubule inner protein 1 [Gene - OMIM - HGNC]
  • CSTF1:cleavage stimulation factor subunit 1 [Gene - OMIM - HGNC]
  • COL9A3:collagen type IX alpha 3 chain [Gene - OMIM - HGNC]
  • COL20A1:collagen type XX alpha 1 chain [Gene - OMIM - HGNC]
  • CPNE1:copine 1 [Gene - OMIM - HGNC]
  • CRNKL1:crooked neck pre-mRNA splicing factor 1 [Gene - OMIM - HGNC]
  • CNBD2:cyclic nucleotide binding domain containing 2 [Gene - HGNC]
  • CST11:cystatin 11 [Gene - OMIM - HGNC]
  • CST8:cystatin 8 [Gene - OMIM - HGNC]
  • CST9L:cystatin 9 like [Gene - OMIM - HGNC]
  • CST9:cystatin 9 [Gene - OMIM - HGNC]
  • CST3:cystatin C [Gene - OMIM - HGNC]
  • CST5:cystatin D [Gene - OMIM - HGNC]
  • CST7:cystatin F [Gene - OMIM - HGNC]
  • CST4:cystatin S [Gene - OMIM - HGNC]
  • CST2:cystatin SA [Gene - OMIM - HGNC]
  • CST1:cystatin SN [Gene - OMIM - HGNC]
  • CSTL1:cystatin like 1 [Gene - HGNC]
  • CYP24A1:cytochrome P450 family 24 subfamily A member 1 [Gene - OMIM - HGNC]
  • COX4I2:cytochrome c oxidase subunit 4I2 [Gene - OMIM - HGNC]
  • DIDO1:death inducer-obliterator 1 [Gene - OMIM - HGNC]
  • DEFB115:defensin beta 115 [Gene - HGNC]
  • DEFB116:defensin beta 116 [Gene - HGNC]
  • DEFB118:defensin beta 118 [Gene - OMIM - HGNC]
  • DEFB119:defensin beta 119 [Gene - OMIM - HGNC]
  • DEFB121:defensin beta 121 [Gene - OMIM - HGNC]
  • DEFB123:defensin beta 123 [Gene - OMIM - HGNC]
  • DEFB124:defensin beta 124 [Gene - HGNC]
  • DEFB125:defensin beta 125 [Gene - HGNC]
  • DEFB126:defensin beta 126 [Gene - OMIM - HGNC]
  • DEFB127:defensin beta 127 [Gene - HGNC]
  • DEFB128:defensin beta 128 [Gene - HGNC]
  • DEFB129:defensin beta 129 [Gene - HGNC]
  • DEFB132:defensin beta 132 [Gene - HGNC]
  • DNTTIP1:deoxynucleotidyltransferase terminal interacting protein 1 [Gene - OMIM - HGNC]
  • DSTN:destrin, actin depolymerizing factor [Gene - OMIM - HGNC]
  • DOK5:docking protein 5 [Gene - OMIM - HGNC]
  • DPM1:dolichyl-phosphate mannosyltransferase subunit 1, catalytic [Gene - OMIM - HGNC]
  • DZANK1:double zinc ribbon and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • DUSP15:dual specificity phosphatase 15 [Gene - OMIM - HGNC]
  • DNAAF9:dynein axonemal assembly factor 9 [Gene - OMIM - HGNC]
  • DYNLRB1:dynein light chain roadblock-type 1 [Gene - OMIM - HGNC]
  • DBNDD2:dysbindin domain containing 2 [Gene - OMIM - HGNC]
  • ENTPD6:ectonucleoside triphosphate diphosphohydrolase 6 [Gene - OMIM - HGNC]
  • EMILIN3:elastin microfibril interfacer 3 [Gene - OMIM - HGNC]
  • EDN3:endothelin 3 [Gene - OMIM - HGNC]
  • ELMO2:engulfment and cell motility 2 [Gene - OMIM - HGNC]
  • EPPIN:epididymal peptidase inhibitor [Gene - OMIM - HGNC]
  • EPB41L1:erythrocyte membrane protein band 4.1 like 1 [Gene - OMIM - HGNC]
  • EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
  • EIF2S2:eukaryotic translation initiation factor 2 subunit beta [Gene - OMIM - HGNC]
  • EIF6:eukaryotic translation initiation factor 6 [Gene - OMIM - HGNC]
  • FAM110A:family with sequence similarity 110 member A [Gene - OMIM - HGNC]
  • FAM209A:family with sequence similarity 209 member A [Gene - HGNC]
  • FAM209B:family with sequence similarity 209 member B [Gene - HGNC]
  • FAM210B:family with sequence similarity 210 member B [Gene - OMIM - HGNC]
  • FAM217B:family with sequence similarity 217 member B [Gene - HGNC]
  • FAM83C:family with sequence similarity 83 member C [Gene - HGNC]
  • FAM83D:family with sequence similarity 83 member D [Gene - OMIM - HGNC]
  • FITM2:fat storage inducing transmembrane protein 2 [Gene - OMIM - HGNC]
  • FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
  • FOXA2:forkhead box A2 [Gene - OMIM - HGNC]
  • FOXS1:forkhead box S1 [Gene - OMIM - HGNC]
  • GTSF1L:gametocyte specific factor 1 like [Gene - HGNC]
  • GGT7:gamma-glutamyltransferase 7 [Gene - OMIM - HGNC]
  • GGTLC1:gamma-glutamyltransferase light chain 1 [Gene - OMIM - HGNC]
  • GDAP1L1:ganglioside induced differentiation associated protein 1 like 1 [Gene - HGNC]
  • GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
  • GCNT7:glucosaminyl (N-acetyl) transferase family member 7 [Gene - HGNC]
  • GSS:glutathione synthetase [Gene - OMIM - HGNC]
  • GPCPD1:glycerophosphocholine phosphodiesterase 1 [Gene - OMIM - HGNC]
  • PYGB:glycogen phosphorylase B [Gene - OMIM - HGNC]
  • GNRH2:gonadotropin releasing hormone 2 [Gene - OMIM - HGNC]
  • GDF5:growth differentiation factor 5 [Gene - OMIM - HGNC]
  • GHRH:growth hormone releasing hormone [Gene - OMIM - HGNC]
  • HSPA12B:heat shock protein family A (Hsp70) member 12B [Gene - OMIM - HGNC]
  • HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
  • HNF4A:hepatocyte nuclear factor 4 alpha [Gene - OMIM - HGNC]
  • HAR1A:highly accelerated region 1A [Gene - OMIM - HGNC]
  • HAR1B:highly accelerated region 1B [Gene - OMIM - HGNC]
  • HRH3:histamine receptor H3 [Gene - OMIM - HGNC]
  • HM13:histocompatibility minor 13 [Gene - OMIM - HGNC]
  • HAO1:hydroxyacid oxidase 1 [Gene - OMIM - HGNC]
  • ID1:inhibitor of DNA binding 1 [Gene - OMIM - HGNC]
  • ITPA:inosine triphosphatase [Gene - OMIM - HGNC]
  • IFT52:intraflagellar transport 52 [Gene - OMIM - HGNC]
  • IDH3B:isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta [Gene - OMIM - HGNC]
  • ISM1:isthmin 1 [Gene - OMIM - HGNC]
  • ITCH:itchy E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • JAG1:jagged canonical Notch ligand 1 [Gene - OMIM - HGNC]
  • JPH2:junctophilin 2 [Gene - OMIM - HGNC]
  • KIF16B:kinesin family member 16B [Gene - OMIM - HGNC]
  • KIF3B:kinesin family member 3B [Gene - OMIM - HGNC]
  • KIZ:kizuna centrosomal protein [Gene - OMIM - HGNC]
  • LAMA5:laminin subunit alpha 5 [Gene - OMIM - HGNC]
  • LRRN4:leucine rich repeat neuronal 4 [Gene - OMIM - HGNC]
  • LZTS3:leucine zipper tumor suppressor family member 3 [Gene - OMIM - HGNC]
  • LPIN3:lipin 3 [Gene - OMIM - HGNC]
  • LBP:lipopolysaccharide binding protein [Gene - OMIM - HGNC]
  • LINC01597:long intergenic non-protein coding RNA 1597 [Gene - HGNC]
  • LINC01711:long intergenic non-protein coding RNA 1711 [Gene - HGNC]
  • LINC02910:long intergenic non-protein coding RNA 2910 [Gene - HGNC]
  • KAT14:lysine acetyltransferase 14 [Gene - OMIM - HGNC]
  • LAMP5:lysosomal associated membrane protein family member 5 [Gene - OMIM - HGNC]
  • MROH8:maestro heat like repeat family member 8 [Gene - HGNC]
  • MANBAL:mannosidase beta like [Gene - HGNC]
  • MATN4:matrilin 4 [Gene - OMIM - HGNC]
  • MMP24:matrix metallopeptidase 24 [Gene - OMIM - HGNC]
  • MMP9:matrix metallopeptidase 9 [Gene - OMIM - HGNC]
  • MC3R:melanocortin 3 receptor [Gene - OMIM - HGNC]
  • MIR1-1:microRNA 1-1 [Gene - OMIM - HGNC]
  • MIR103A2:microRNA 103a-2 [Gene - OMIM - HGNC]
  • MIR1292:microRNA 1292 [Gene - OMIM - HGNC]
  • MIR133A2:microRNA 133a-2 [Gene - OMIM - HGNC]
  • MIR296:microRNA 296 [Gene - OMIM - HGNC]
  • MIR298:microRNA 298 [Gene - OMIM - HGNC]
  • MIR499A:microRNA 499a [Gene - OMIM - HGNC]
  • MAP1LC3A:microtubule associated protein 1 light chain 3 alpha [Gene - OMIM - HGNC]
  • MAPRE1:microtubule associated protein RP/EB family member 1 [Gene - OMIM - HGNC]
  • MTCL2:microtubule crosslinking factor 2 [Gene - OMIM - HGNC]
  • MCM8:minichromosome maintenance 8 homologous recombination repair factor [Gene - OMIM - HGNC]
  • MAVS:mitochondrial antiviral signaling protein [Gene - OMIM - HGNC]
  • MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]
  • MRPS26:mitochondrial ribosomal protein S26 [Gene - OMIM - HGNC]
  • MTG2:mitochondrial ribosome associated GTPase 2 [Gene - OMIM - HGNC]
  • MOCS3:molybdenum cofactor synthesis 3 [Gene - OMIM - HGNC]
  • MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]
  • MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
  • MYH7B:myosin heavy chain 7B [Gene - OMIM - HGNC]
  • MYL9:myosin light chain 9 [Gene - OMIM - HGNC]
  • MYLK2:myosin light chain kinase 2 [Gene - OMIM - HGNC]
  • NELFCD:negative elongation factor complex member C/D [Gene - OMIM - HGNC]
  • NEURL2:neuralized E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • NRSN2:neurensin 2 [Gene - OMIM - HGNC]
  • NNAT:neuronatin [Gene - OMIM - HGNC]
  • NPBWR2:neuropeptides B and W receptor 2 [Gene - OMIM - HGNC]
  • NTSR1:neurotensin receptor 1 [Gene - OMIM - HGNC]
  • NINL:ninein like [Gene - OMIM - HGNC]
  • NFATC2:nuclear factor of activated T cells 2 [Gene - OMIM - HGNC]
  • NCOA3:nuclear receptor coactivator 3 [Gene - OMIM - HGNC]
  • NCOA5:nuclear receptor coactivator 5 [Gene - OMIM - HGNC]
  • NCOA6:nuclear receptor coactivator 6 [Gene - OMIM - HGNC]
  • NXT1:nuclear transport factor 2 like export factor 1 [Gene - OMIM - HGNC]
  • NOL4L:nucleolar protein 4 like [Gene - OMIM - HGNC]
  • OGFR:opioid growth factor receptor [Gene - OMIM - HGNC]
  • OPRL1:opioid related nociceptin receptor 1 [Gene - OMIM - HGNC]
  • OCSTAMP:osteoclast stimulatory transmembrane protein [Gene - OMIM - HGNC]
  • OTOR:otoraplin [Gene - OMIM - HGNC]
  • OVOL2:ovo like zinc finger 2 [Gene - OMIM - HGNC]
  • OSER1:oxidative stress responsive serine rich 1 [Gene - HGNC]
  • OSBPL2:oxysterol binding protein like 2 [Gene - OMIM - HGNC]
  • OXT:oxytocin/neurophysin I prepropeptide [Gene - OMIM - HGNC]
  • PAK5:p21 (RAC1) activated kinase 5 [Gene - OMIM - HGNC]
  • PDRG1:p53 and DNA damage regulated 1 [Gene - OMIM - HGNC]
  • PAX1:paired box 1 [Gene - OMIM - HGNC]
  • PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
  • PANK2:pantothenate kinase 2 [Gene - OMIM - HGNC]
  • PARD6B:par-6 family cell polarity regulator beta [Gene - OMIM - HGNC]
  • PI3:peptidase inhibitor 3 [Gene - OMIM - HGNC]
  • PXMP4:peroxisomal membrane protein 4 [Gene - OMIM - HGNC]
  • PHACTR3:phosphatase and actin regulator 3 [Gene - OMIM - HGNC]
  • PIGT:phosphatidylinositol glycan anchor biosynthesis class T [Gene - OMIM - HGNC]
  • PIGU:phosphatidylinositol glycan anchor biosynthesis class U [Gene - OMIM - HGNC]
  • PREX1:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 [Gene - OMIM - HGNC]
  • PCK1:phosphoenolpyruvate carboxykinase 1 [Gene - OMIM - HGNC]
  • PLCB1:phospholipase C beta 1 [Gene - OMIM - HGNC]
  • PLCB4:phospholipase C beta 4 [Gene - OMIM - HGNC]
  • PLCG1:phospholipase C gamma 1 [Gene - OMIM - HGNC]
  • PLTP:phospholipid transfer protein [Gene - OMIM - HGNC]
  • PCIF1:phosphorylated CTD interacting factor 1 [Gene - OMIM - HGNC]
  • PEDS1:plasmanylethanolamine desaturase 1 [Gene - OMIM - HGNC]
  • PABPC1L:poly(A) binding protein cytoplasmic 1 like [Gene - HGNC]
  • KCNK15:potassium two pore domain channel subfamily K member 15 [Gene - OMIM - HGNC]
  • KCNG1:potassium voltage-gated channel modifier subfamily G member 1 [Gene - OMIM - HGNC]
  • KCNS1:potassium voltage-gated channel modifier subfamily S member 1 [Gene - OMIM - HGNC]
  • KCNB1:potassium voltage-gated channel subfamily B member 1 [Gene - OMIM - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • PRPF6:pre-mRNA processing factor 6 [Gene - OMIM - HGNC]
  • PFDN4:prefoldin subunit 4 [Gene - OMIM - HGNC]
  • PRND:prion like protein doppel [Gene - OMIM - HGNC]
  • PRNP:prion protein (Kanno blood group) [Gene - OMIM - HGNC]
  • PDYN:prodynorphin [Gene - OMIM - HGNC]
  • PROKR2:prokineticin receptor 2 [Gene - OMIM - HGNC]
  • PCNA:proliferating cell nuclear antigen [Gene - OMIM - HGNC]
  • PCSK2:proprotein convertase subtilisin/kexin type 2 [Gene - OMIM - HGNC]
  • PTGIS:prostaglandin I2 synthase [Gene - OMIM - HGNC]
  • PMEPA1:prostate transmembrane protein, androgen induced 1 [Gene - OMIM - HGNC]
  • PSMA7:proteasome 20S subunit alpha 7 [Gene - OMIM - HGNC]
  • PSMF1:proteasome inhibitor subunit 1 [Gene - OMIM - HGNC]
  • PROCR:protein C receptor [Gene - OMIM - HGNC]
  • POFUT1:protein O-fucosyltransferase 1 [Gene - OMIM - HGNC]
  • PPP1R16B:protein phosphatase 1 regulatory subunit 16B [Gene - OMIM - HGNC]
  • PPP1R3D:protein phosphatase 1 regulatory subunit 3D [Gene - OMIM - HGNC]
  • PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
  • PTPN1:protein tyrosine phosphatase non-receptor type 1 [Gene - OMIM - HGNC]
  • PTPRA:protein tyrosine phosphatase receptor type A [Gene - OMIM - HGNC]
  • PTPRT:protein tyrosine phosphatase receptor type T [Gene - OMIM - HGNC]
  • PCMTD2:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Gene - OMIM - HGNC]
  • ROMO1:reactive oxygen species modulator 1 [Gene - OMIM - HGNC]
  • RBPJL:recombination signal binding protein for immunoglobulin kappa J region like [Gene - OMIM - HGNC]
  • RIMS4:regulating synaptic membrane exocytosis 4 [Gene - OMIM - HGNC]
  • RPRD1B:regulation of nuclear pre-mRNA domain containing 1B [Gene - OMIM - HGNC]
  • RGS19:regulator of G protein signaling 19 [Gene - OMIM - HGNC]
  • RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
  • RTF2:replication termination factor 2 [Gene - HGNC]
  • RAE1:ribonucleic acid export 1 [Gene - OMIM - HGNC]
  • RPN2:ribophorin II [Gene - OMIM - HGNC]
  • RPS21:ribosomal protein S21 [Gene - OMIM - HGNC]
  • RRBP1:ribosome binding protein 1 [Gene - OMIM - HGNC]
  • RNF114:ring finger protein 114 [Gene - OMIM - HGNC]
  • RNF24:ring finger protein 24 [Gene - OMIM - HGNC]
  • SCRT2:scratch family transcriptional repressor 2 [Gene - HGNC]
  • SLPI:secretory leukocyte peptidase inhibitor [Gene - OMIM - HGNC]
  • SEMG1:semenogelin 1 [Gene - OMIM - HGNC]
  • SEMG2:semenogelin 2 [Gene - OMIM - HGNC]
  • SRSF6:serine and arginine rich splicing factor 6 [Gene - OMIM - HGNC]
  • SERINC3:serine incorporator 3 [Gene - OMIM - HGNC]
  • SPTLC3:serine palmitoyltransferase long chain base subunit 3 [Gene - OMIM - HGNC]
  • SPINT3:serine peptidase inhibitor, Kunitz type 3 [Gene - OMIM - HGNC]
  • SPINT4:serine peptidase inhibitor, Kunitz type 4 [Gene - OMIM - HGNC]
  • STK35:serine/threonine kinase 35 [Gene - OMIM - HGNC]
  • STK4:serine/threonine kinase 4 [Gene - OMIM - HGNC]
  • SGK2:serum/glucocorticoid regulated kinase 2 [Gene - OMIM - HGNC]
  • SHLD1:shieldin complex subunit 1 [Gene - OMIM - HGNC]
  • SIGLEC1:sialic acid binding Ig like lectin 1 [Gene - OMIM - HGNC]
  • SIRPA:signal regulatory protein alpha [Gene - OMIM - HGNC]
  • SIRPB1:signal regulatory protein beta 1 [Gene - OMIM - HGNC]
  • SIRPB2:signal regulatory protein beta 2 [Gene - HGNC]
  • SIRPD:signal regulatory protein delta [Gene - HGNC]
  • SIRPG:signal regulatory protein gamma [Gene - OMIM - HGNC]
  • SNRPB2:small nuclear ribonucleoprotein polypeptide B2 [Gene - OMIM - HGNC]
  • SNRPB:small nuclear ribonucleoprotein polypeptides B and B1 [Gene - OMIM - HGNC]
  • SNHG11:small nucleolar RNA host gene 11 [Gene - OMIM - HGNC]
  • SNAI1:snail family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • NKAIN4:sodium/potassium transporting ATPase interacting 4 [Gene - OMIM - HGNC]
  • SLC12A5:solute carrier family 12 member 5 [Gene - OMIM - HGNC]
  • SLC13A3:solute carrier family 13 member 3 [Gene - OMIM - HGNC]
  • SLC17A9:solute carrier family 17 member 9 [Gene - OMIM - HGNC]
  • SLC2A10:solute carrier family 2 member 10 [Gene - OMIM - HGNC]
  • SLC23A2:solute carrier family 23 member 2 [Gene - OMIM - HGNC]
  • SLC24A3:solute carrier family 24 member 3 [Gene - OMIM - HGNC]
  • SLC32A1:solute carrier family 32 member 1 [Gene - OMIM - HGNC]
  • SLC35C2:solute carrier family 35 member C2 [Gene - OMIM - HGNC]
  • SLC4A11:solute carrier family 4 member 11 [Gene - OMIM - HGNC]
  • SLC52A3:solute carrier family 52 member 3 [Gene - OMIM - HGNC]
  • SLC9A8:solute carrier family 9 member A8 [Gene - OMIM - HGNC]
  • SLCO4A1:solute carrier organic anion transporter family member 4A1 [Gene - OMIM - HGNC]
  • SSTR4:somatostatin receptor 4 [Gene - OMIM - HGNC]
  • SNX5:sorting nexin 5 [Gene - OMIM - HGNC]
  • SNX21:sorting nexin family member 21 [Gene - OMIM - HGNC]
  • SALL4:spalt like transcription factor 4 [Gene - OMIM - HGNC]
  • SPAG4:sperm associated antigen 4 [Gene - OMIM - HGNC]
  • SPEF1:sperm flagellar 1 [Gene - OMIM - HGNC]
  • SPATA25:spermatogenesis associated 25 [Gene - OMIM - HGNC]
  • SPATA2:spermatogenesis associated 2 [Gene - OMIM - HGNC]
  • SMOX:spermine oxidase [Gene - OMIM - HGNC]
  • SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
  • STMN3:stathmin 3 [Gene - OMIM - HGNC]
  • STAU1:staufen double-stranded RNA binding protein 1 [Gene - OMIM - HGNC]
  • SAMD10:sterile alpha motif domain containing 10 [Gene - HGNC]
  • SULF2:sulfatase 2 [Gene - OMIM - HGNC]
  • SRXN1:sulfiredoxin 1 [Gene - OMIM - HGNC]
  • SYNDIG1:synapse differentiation inducing 1 [Gene - OMIM - HGNC]
  • SYCP2:synaptonemal complex protein 2 [Gene - OMIM - HGNC]
  • SNAP25:synaptosome associated protein 25 [Gene - OMIM - HGNC]
  • SDC4:syndecan 4 [Gene - OMIM - HGNC]
  • SDCBP2:syndecan binding protein 2 [Gene - OMIM - HGNC]
  • SNPH:syntaphilin [Gene - OMIM - HGNC]
  • STX16:syntaxin 16 [Gene - OMIM - HGNC]
  • SNTA1:syntrophin alpha 1 [Gene - OMIM - HGNC]
  • TRMT6:tRNA methyltransferase 6 non-catalytic subunit [Gene - OMIM - HGNC]
  • TASP1:taspase 1 [Gene - OMIM - HGNC]
  • TSHZ2:teashirt zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • TMX4:thioredoxin related transmembrane protein 4 [Gene - OMIM - HGNC]
  • THBD:thrombomodulin [Gene - OMIM - HGNC]
  • TCEA2:transcription elongation factor A2 [Gene - OMIM - HGNC]
  • TCF15:transcription factor 15 [Gene - OMIM - HGNC]
  • TFAP2C:transcription factor AP-2 gamma [Gene - OMIM - HGNC]
  • TCFL5:transcription factor like 5 [Gene - OMIM - HGNC]
  • TGM2:transglutaminase 2 [Gene - OMIM - HGNC]
  • TGM3:transglutaminase 3 [Gene - OMIM - HGNC]
  • TGM6:transglutaminase 6 [Gene - OMIM - HGNC]
  • TRPC4AP:transient receptor potential cation channel subfamily C member 4 associated protein [Gene - OMIM - HGNC]
  • TRERNA1:translation regulatory long non-coding RNA 1 [Gene - HGNC]
  • TOMM34:translocase of outer mitochondrial membrane 34 [Gene - OMIM - HGNC]
  • TM9SF4:transmembrane 9 superfamily member 4 [Gene - OMIM - HGNC]
  • TMC2:transmembrane channel like 2 [Gene - OMIM - HGNC]
  • TMEM230:transmembrane protein 230 [Gene - OMIM - HGNC]
  • TMEM239:transmembrane protein 239 [Gene - HGNC]
  • TMEM74B:transmembrane protein 74B [Gene - HGNC]
  • TRIB3:tribbles pseudokinase 3 [Gene - OMIM - HGNC]
  • TNNC2:troponin C2, fast skeletal type [Gene - OMIM - HGNC]
  • TUBB1:tubulin beta 1 class VI [Gene - OMIM - HGNC]
  • TTLL9:tubulin tyrosine ligase like 9 [Gene - OMIM - HGNC]
  • TP53INP2:tumor protein p53 inducible nuclear protein 2 [Gene - OMIM - HGNC]
  • YWHAB:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein beta [Gene - OMIM - HGNC]
  • UQCC1:ubiquinol-cytochrome c reductase complex assembly factor 1 [Gene - OMIM - HGNC]
  • UBE2C:ubiquitin conjugating enzyme E2 C [Gene - OMIM - HGNC]
  • UBE2V1:ubiquitin conjugating enzyme E2 V1 [Gene - OMIM - HGNC]
  • LOC100128310:uncharacterized LOC100128310 [Gene]
  • UCKL1:uridine-cytidine kinase 1 like 1 [Gene - OMIM - HGNC]
  • VSX1:visual system homeobox 1 [Gene - OMIM - HGNC]
  • ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
  • ZCCHC3:zinc finger CCHC-type containing 3 [Gene - OMIM - HGNC]
  • ZMYND8:zinc finger MYND-type containing 8 [Gene - OMIM - HGNC]
  • ZNFX1:zinc finger NFX1-type containing 1 [Gene - OMIM - HGNC]
  • ZSWIM1:zinc finger SWIM-type containing 1 [Gene - HGNC]
  • ZSWIM3:zinc finger SWIM-type containing 3 [Gene - OMIM - HGNC]
  • ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
  • ZNF133:zinc finger protein 133 [Gene - OMIM - HGNC]
  • ZNF217:zinc finger protein 217 [Gene - OMIM - HGNC]
  • ZNF334:zinc finger protein 334 [Gene - HGNC]
  • ZNF335:zinc finger protein 335 [Gene - OMIM - HGNC]
  • ZNF337:zinc finger protein 337 [Gene - HGNC]
  • ZNF341:zinc finger protein 341 [Gene - OMIM - HGNC]
  • ZNF343:zinc finger protein 343 [Gene - HGNC]
  • ZNF512B:zinc finger protein 512B [Gene - OMIM - HGNC]
  • ZNF831:zinc finger protein 831 [Gene - HGNC]
  • ZNF840P:zinc finger protein 840, pseudogene [Gene - HGNC]
  • ZHX3:zinc fingers and homeoboxes 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p13-q13.33
Genomic location:
Chr20: 61569 - 62915555 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3
HGVS:
    Links:
    dbVar: nssv13655370; dbVar: nsv2778234
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000586015ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Dec 2, 2014)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot 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, SCV000586015.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Sep 1, 2024