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GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 16, 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:
RCV000512477.3

Allele description [Variation Report for GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3]

GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3

Genes:
  • AKIP1:A-kinase interacting protein 1 [Gene - OMIM - HGNC]
  • ARFIP2:ADP ribosylation factor interacting protein 2 [Gene - OMIM - HGNC]
  • ARL14EP:ADP ribosylation factor like GTPase 14 effector protein [Gene - OMIM - HGNC]
  • ART1:ADP-ribosyltransferase 1 [Gene - OMIM - HGNC]
  • ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]
  • ABCC8:ATP binding cassette subfamily C member 8 [Gene - OMIM - HGNC]
  • BDNF-AS:BDNF antisense RNA [Gene - OMIM - HGNC]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • BTBD10:BTB domain containing 10 [Gene - OMIM - HGNC]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • CD81:CD81 molecule [Gene - OMIM - HGNC]
  • COPB1:COPI coat complex subunit beta 1 [Gene - OMIM - HGNC]
  • CTR9:CTR9 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]
  • DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
  • DENND2B:DENN domain containing 2B [Gene - OMIM - HGNC]
  • DENND5A:DENN domain containing 5A [Gene - OMIM - HGNC]
  • DNAJC24:DnaJ heat shock protein family (Hsp40) member C24 [Gene - OMIM - HGNC]
  • E2F8:E2F transcription factor 8 [Gene - OMIM - HGNC]
  • EPS8L2:EPS8 signaling adaptor L2 [Gene - OMIM - HGNC]
  • FANCF:FA complementation group F [Gene - OMIM - HGNC]
  • FHIP1B:FHF complex subunit HOOK interacting protein 1B [Gene - OMIM - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HTATIP2:HIV-1 Tat interactive protein 2 [Gene - OMIM - HGNC]
  • HPS5:HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Gene - OMIM - HGNC]
  • HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
  • INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
  • INSC:INSC spindle orientation adaptor protein [Gene - OMIM - HGNC]
  • KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
  • KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
  • LMO1:LIM domain only 1 [Gene - OMIM - HGNC]
  • LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
  • MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
  • MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
  • MRGPRX1:MAS related GPR family member X1 [Gene - OMIM - HGNC]
  • MRGPRX2:MAS related GPR family member X2 [Gene - OMIM - HGNC]
  • MRGPRX3:MAS related GPR family member X3 [Gene - OMIM - HGNC]
  • MRGPRX4:MAS related GPR family member X4 [Gene - OMIM - HGNC]
  • MICALCL:MICAL C-terminal like [Gene - OMIM - HGNC]
  • MIR210HG:MIR210 host gene [Gene - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • MTRNR2L8:MT-RNR2 like 8 [Gene - HGNC]
  • NLRP10:NLR family pyrin domain containing 10 [Gene - OMIM - HGNC]
  • NLRP14:NLR family pyrin domain containing 14 [Gene - OMIM - HGNC]
  • NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
  • PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
  • PPFIBP2:PPFIA binding protein 2 [Gene - OMIM - HGNC]
  • RRAS2:RAS related 2 [Gene - OMIM - HGNC]
  • RBMXL2:RBMX like 2 [Gene - OMIM - HGNC]
  • RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • RASSF10:Ras association domain family member 10 [Gene - OMIM - HGNC]
  • RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
  • SAA2-SAA4:SAA2-SAA4 readthrough [Gene - HGNC]
  • SBF2:SET binding factor 2 [Gene - OMIM - HGNC]
  • SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
  • SPTY2D1:SPT2 chromatin protein domain containing 1 [Gene - HGNC]
  • SOX6:SRY-box transcription factor 6 [Gene - OMIM - HGNC]
  • TAF10:TATA-box binding protein associated factor 10 [Gene - OMIM - HGNC]
  • TEAD1:TEA domain transcription factor 1 [Gene - OMIM - HGNC]
  • TMEM9B:TMEM9 domain family member B [Gene - OMIM - HGNC]
  • TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
  • UEVLD:UEV and lactate/malate dehyrogenase domains [Gene - OMIM - HGNC]
  • USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
  • WEE1:WEE1 G2 checkpoint kinase [Gene - OMIM - HGNC]
  • ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • ASCL3:achaete-scute family bHLH transcription factor 3 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • AMPD3:adenosine monophosphate deaminase 3 [Gene - OMIM - HGNC]
  • ADM:adrenomedullin [Gene - OMIM - HGNC]
  • APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
  • ANO3:anoctamin 3 [Gene - OMIM - HGNC]
  • ANO5:anoctamin 5 [Gene - OMIM - HGNC]
  • ANO9:anoctamin 9 [Gene - OMIM - HGNC]
  • BMAL1:basic helix-loop-helix ARNT like 1 [Gene - OMIM - HGNC]
  • B4GALNT4:beta-1,4-N-acetyl-galactosaminyltransferase 4 [Gene - OMIM - HGNC]
  • BDNF:brain derived neurotrophic factor [Gene - OMIM - HGNC]
  • CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
  • CALCA:calcitonin related polypeptide alpha [Gene - OMIM - HGNC]
  • CALCB:calcitonin related polypeptide beta [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CSNK2A3:casein kinase 2 alpha 3 [Gene - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]
  • CHRNA10:cholinergic receptor nicotinic alpha 10 subunit [Gene - OMIM - HGNC]
  • C11orf16:chromosome 11 open reading frame 16 [Gene - HGNC]
  • C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
  • C11orf42:chromosome 11 open reading frame 42 [Gene - HGNC]
  • C11orf58:chromosome 11 open reading frame 58 [Gene - OMIM - HGNC]
  • C11orf40:chromosome 11 putative open reading frame 40 [Gene - HGNC]
  • CCDC179:coiled-coil domain containing 179 [Gene - HGNC]
  • CCDC34:coiled-coil domain containing 34 [Gene - OMIM - HGNC]
  • CNGA4:cyclic nucleotide gated channel subunit alpha 4 [Gene - OMIM - HGNC]
  • CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
  • CSRP3:cysteine and glycine rich protein 3 [Gene - OMIM - HGNC]
  • CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • CYP2R1:cytochrome P450 family 2 subfamily R member 1 [Gene - OMIM - HGNC]
  • CYB5R2:cytochrome b5 reductase 2 [Gene - OMIM - HGNC]
  • DCHS1:dachsous cadherin-related 1 [Gene - OMIM - HGNC]
  • DBX1:developing brain homeobox 1 [Gene - OMIM - HGNC]
  • DKK3:dickkopf WNT signaling pathway inhibitor 3 [Gene - OMIM - HGNC]
  • DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
  • DCDC1:doublecortin domain containing 1 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • DNHD1:dynein heavy chain domain 1 [Gene - OMIM - HGNC]
  • ELP4:elongator acetyltransferase complex subunit 4 [Gene - OMIM - HGNC]
  • EIF3F:eukaryotic translation initiation factor 3 subunit F [Gene - OMIM - HGNC]
  • EIF4G2:eukaryotic translation initiation factor 4 gamma 2 [Gene - OMIM - HGNC]
  • FAR1:fatty acyl-CoA reductase 1 [Gene - OMIM - HGNC]
  • FIBIN:fin bud initiation factor homolog [Gene - OMIM - HGNC]
  • FSHB:follicle stimulating hormone subunit beta [Gene - OMIM - HGNC]
  • BBOX1:gamma-butyrobetaine hydroxylase 1 [Gene - OMIM - HGNC]
  • GTF2H1:general transcription factor IIH subunit 1 [Gene - OMIM - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • GAS2:growth arrest specific 2 [Gene - OMIM - HGNC]
  • HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
  • HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
  • HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
  • HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
  • HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
  • HPX:hemopexin [Gene - OMIM - HGNC]
  • IGSF22:immunoglobulin superfamily member 22 [Gene - HGNC]
  • IPO7:importin 7 [Gene - OMIM - HGNC]
  • IMMP1L:inner mitochondrial membrane peptidase subunit 1 [Gene - OMIM - HGNC]
  • IRAG1:inositol 1,4,5-triphosphate receptor associated 1 [Gene - OMIM - HGNC]
  • IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
  • INS:insulin [Gene - OMIM - HGNC]
  • ILK:integrin linked kinase [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • IFITM1:interferon induced transmembrane protein 1 [Gene - OMIM - HGNC]
  • IFITM2:interferon induced transmembrane protein 2 [Gene - OMIM - HGNC]
  • IFITM3:interferon induced transmembrane protein 3 [Gene - OMIM - HGNC]
  • IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
  • IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • KIF18A:kinesin family member 18A [Gene - OMIM - HGNC]
  • LDHAL6A:lactate dehydrogenase A like 6A [Gene - OMIM - HGNC]
  • LDHA:lactate dehydrogenase A [Gene - OMIM - HGNC]
  • LDHC:lactate dehydrogenase C [Gene - OMIM - HGNC]
  • LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
  • LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
  • LGR4:leucine rich repeat containing G protein-coupled receptor 4 [Gene - OMIM - HGNC]
  • LUZP2:leucine zipper protein 2 [Gene - OMIM - HGNC]
  • LIN7C:lin-7 homolog C, crumbs cell polarity complex component [Gene - OMIM - HGNC]
  • LYVE1:lymphatic vessel endothelial hyaluronan receptor 1 [Gene - OMIM - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
  • MPPED2:metallophosphoesterase domain containing 2 [Gene - OMIM - HGNC]
  • METTL15:methyltransferase 15, mitochondrial 12S rRNA N4-cytidine [Gene - OMIM - HGNC]
  • MIR210:microRNA 210 [Gene - OMIM - HGNC]
  • MIR610:microRNA 610 [Gene - OMIM - HGNC]
  • MICAL2:microtubule associated monooxygenase, calponin and LIM domain containing 2 [Gene - OMIM - HGNC]
  • MRPL17:mitochondrial ribosomal protein L17 [Gene - OMIM - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC15:mucin 15, cell surface associated [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MYOD1:myogenic differentiation 1 [Gene - OMIM - HGNC]
  • NCR3LG1:natural killer cell cytotoxicity receptor 3 ligand 1 [Gene - OMIM - HGNC]
  • NELL1:neural EGFL like 1 [Gene - OMIM - HGNC]
  • NAV2:neuron navigator 2 [Gene - OMIM - HGNC]
  • NRIP3:nuclear receptor interacting protein 3 [Gene - OMIM - HGNC]
  • NUCB2:nucleobindin 2 [Gene - OMIM - HGNC]
  • NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]
  • NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
  • OLFML1:olfactomedin like 1 [Gene - HGNC]
  • OR10A2:olfactory receptor family 10 subfamily A member 2 [Gene - HGNC]
  • OR10A3:olfactory receptor family 10 subfamily A member 3 [Gene - HGNC]
  • OR10A4:olfactory receptor family 10 subfamily A member 4 [Gene - HGNC]
  • OR10A5:olfactory receptor family 10 subfamily A member 5 [Gene - OMIM - HGNC]
  • OR10A6:olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) [Gene - HGNC]
  • OR2AG1:olfactory receptor family 2 subfamily AG member 1 [Gene - HGNC]
  • OR2AG2:olfactory receptor family 2 subfamily AG member 2 [Gene - HGNC]
  • OR2D2:olfactory receptor family 2 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR2D3:olfactory receptor family 2 subfamily D member 3 [Gene - HGNC]
  • OR5P2:olfactory receptor family 5 subfamily P member 2 [Gene - HGNC]
  • OR5P3:olfactory receptor family 5 subfamily P member 3 [Gene - HGNC]
  • OR51A2:olfactory receptor family 51 subfamily A member 2 [Gene - HGNC]
  • OR51A4:olfactory receptor family 51 subfamily A member 4 [Gene - HGNC]
  • OR51A7:olfactory receptor family 51 subfamily A member 7 [Gene - HGNC]
  • OR51B2:olfactory receptor family 51 subfamily B member 2 [Gene - HGNC]
  • OR51B4:olfactory receptor family 51 subfamily B member 4 [Gene - HGNC]
  • OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
  • OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
  • OR51D1:olfactory receptor family 51 subfamily D member 1 [Gene - HGNC]
  • OR51E1:olfactory receptor family 51 subfamily E member 1 [Gene - OMIM - HGNC]
  • OR51E2:olfactory receptor family 51 subfamily E member 2 [Gene - OMIM - HGNC]
  • OR51F1:olfactory receptor family 51 subfamily F member 1 [Gene - HGNC]
  • OR51F2:olfactory receptor family 51 subfamily F member 2 [Gene - HGNC]
  • OR51G1:olfactory receptor family 51 subfamily G member 1 [Gene - HGNC]
  • OR51G2:olfactory receptor family 51 subfamily G member 2 [Gene - HGNC]
  • OR51I1:olfactory receptor family 51 subfamily I member 1 [Gene - HGNC]
  • OR51I2:olfactory receptor family 51 subfamily I member 2 [Gene - HGNC]
  • OR51L1:olfactory receptor family 51 subfamily L member 1 [Gene - HGNC]
  • OR51M1:olfactory receptor family 51 subfamily M member 1 [Gene - HGNC]
  • OR51Q1:olfactory receptor family 51 subfamily Q member 1 [Gene - HGNC]
  • OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
  • OR51T1:olfactory receptor family 51 subfamily T member 1 [Gene - HGNC]
  • OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
  • OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
  • OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
  • OR52B2:olfactory receptor family 52 subfamily B member 2 [Gene - HGNC]
  • OR52B4:olfactory receptor family 52 subfamily B member 4 [Gene - HGNC]
  • OR52B6:olfactory receptor family 52 subfamily B member 6 [Gene - HGNC]
  • OR52D1:olfactory receptor family 52 subfamily D member 1 [Gene - HGNC]
  • OR52E2:olfactory receptor family 52 subfamily E member 2 [Gene - HGNC]
  • OR52E4:olfactory receptor family 52 subfamily E member 4 [Gene - HGNC]
  • OR52E6:olfactory receptor family 52 subfamily E member 6 [Gene - HGNC]
  • OR52E8:olfactory receptor family 52 subfamily E member 8 [Gene - HGNC]
  • OR52H1:olfactory receptor family 52 subfamily H member 1 [Gene - HGNC]
  • OR52I1:olfactory receptor family 52 subfamily I member 1 [Gene - HGNC]
  • OR52I2:olfactory receptor family 52 subfamily I member 2 [Gene - HGNC]
  • OR52J3:olfactory receptor family 52 subfamily J member 3 [Gene - HGNC]
  • OR52K1:olfactory receptor family 52 subfamily K member 1 [Gene - HGNC]
  • OR52K2:olfactory receptor family 52 subfamily K member 2 [Gene - HGNC]
  • OR52L1:olfactory receptor family 52 subfamily L member 1 [Gene - HGNC]
  • OR52M1:olfactory receptor family 52 subfamily M member 1 [Gene - HGNC]
  • OR52N1:olfactory receptor family 52 subfamily N member 1 [Gene - HGNC]
  • OR52N2:olfactory receptor family 52 subfamily N member 2 [Gene - HGNC]
  • OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
  • OR52N5:olfactory receptor family 52 subfamily N member 5 [Gene - HGNC]
  • OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]
  • OR52W1:olfactory receptor family 52 subfamily W member 1 [Gene - HGNC]
  • OR56A1:olfactory receptor family 56 subfamily A member 1 [Gene - HGNC]
  • OR56A3:olfactory receptor family 56 subfamily A member 3 [Gene - HGNC]
  • OR56A4:olfactory receptor family 56 subfamily A member 4 [Gene - HGNC]
  • OR56A5:olfactory receptor family 56 subfamily A member 5 [Gene - HGNC]
  • OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
  • OR56B4:olfactory receptor family 56 subfamily B member 4 [Gene - HGNC]
  • OR6A2:olfactory receptor family 6 subfamily A member 2 [Gene - OMIM - HGNC]
  • OTOG:otogelin [Gene - OMIM - HGNC]
  • OVCH2:ovochymase 2 [Gene - OMIM - HGNC]
  • OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PAX6:paired box 6 [Gene - OMIM - HGNC]
  • PTH:parathyroid hormone [Gene - OMIM - HGNC]
  • PARVA:parvin alpha [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PIK3C2A:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [Gene - OMIM - HGNC]
  • PTDSS2:phosphatidylserine synthase 2 [Gene - OMIM - HGNC]
  • PDE3B:phosphodiesterase 3B [Gene - OMIM - HGNC]
  • PKP3:plakophilin 3 [Gene - OMIM - HGNC]
  • PLEKHA7:pleckstrin homology domain containing A7 [Gene - OMIM - HGNC]
  • PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
  • GALNT18:polypeptide N-acetylgalactosaminyltransferase 18 [Gene - OMIM - HGNC]
  • PGAP2:post-GPI attachment to proteins 2 [Gene - OMIM - HGNC]
  • KCNJ11:potassium inwardly rectifying channel subfamily J member 11 [Gene - OMIM - HGNC]
  • KCNA4:potassium voltage-gated channel subfamily A member 4 [Gene - OMIM - HGNC]
  • KCNC1:potassium voltage-gated channel subfamily C member 1 [Gene - OMIM - HGNC]
  • KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
  • PSMA1:proteasome 20S subunit alpha 1 [Gene - OMIM - HGNC]
  • PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
  • PRMT3:protein arginine methyltransferase 3 [Gene - OMIM - HGNC]
  • PTPN5:protein tyrosine phosphatase non-receptor type 5 [Gene - OMIM - HGNC]
  • PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
  • RHOG:ras homolog family member G [Gene - OMIM - HGNC]
  • RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
  • RRM1:ribonucleotide reductase catalytic subunit M1 [Gene - OMIM - HGNC]
  • RRP8:ribosomal RNA processing 8 [Gene - OMIM - HGNC]
  • RPL27A:ribosomal protein L27a [Gene - OMIM - HGNC]
  • RPS13:ribosomal protein S13 [Gene - OMIM - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • RNF141:ring finger protein 141 [Gene - OMIM - HGNC]
  • SCT:secretin [Gene - OMIM - HGNC]
  • SERGEF:secretion regulating guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • STK33:serine/threonine kinase 33 [Gene - OMIM - HGNC]
  • SAAL1:serum amyloid A like 1 [Gene - HGNC]
  • SAA1:serum amyloid A1 [Gene - OMIM - HGNC]
  • SAA2:serum amyloid A2 [Gene - OMIM - HGNC]
  • SAA4:serum amyloid A4, constitutive [Gene - OMIM - HGNC]
  • SCUBE2:signal peptide, CUB domain and EGF like domain containing 2 [Gene - OMIM - HGNC]
  • SIGIRR:single Ig and TIR domain containing [Gene - OMIM - HGNC]
  • SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
  • SVIP:small VCP interacting protein [Gene - HGNC]
  • SNORA3B:small nucleolar RNA, H/ACA box 3B [Gene - OMIM - HGNC]
  • SLC17A6:solute carrier family 17 member 6 [Gene - OMIM - HGNC]
  • SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • SLC5A12:solute carrier family 5 member 12 [Gene - OMIM - HGNC]
  • SLC6A5:solute carrier family 6 member 5 [Gene - OMIM - HGNC]
  • SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
  • SPON1:spondin 1 [Gene - OMIM - HGNC]
  • STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]
  • SWAP70:switching B cell complex subunit SWAP70 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • SYT9:synaptotagmin 9 [Gene - OMIM - HGNC]
  • TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
  • TIMM10B:translocase of inner mitochondrial membrane 10B [Gene - OMIM - HGNC]
  • TMEM41B:transmembrane protein 41B [Gene - OMIM - HGNC]
  • TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
  • TMEM86A:transmembrane protein 86A [Gene - HGNC]
  • TRIM21:tripartite motif containing 21 [Gene - OMIM - HGNC]
  • TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
  • TRIM34:tripartite motif containing 34 [Gene - OMIM - HGNC]
  • TRIM3:tripartite motif containing 3 [Gene - OMIM - HGNC]
  • TRIM5:tripartite motif containing 5 [Gene - OMIM - HGNC]
  • TRIM66:tripartite motif containing 66 [Gene - OMIM - HGNC]
  • TRIM68:tripartite motif containing 68 [Gene - OMIM - HGNC]
  • TRIM6:tripartite motif containing 6 [Gene - OMIM - HGNC]
  • TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
  • TPH1:tryptophan hydroxylase 1 [Gene - OMIM - HGNC]
  • TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
  • TSG101:tumor susceptibility 101 [Gene - OMIM - HGNC]
  • TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
  • UBQLN3:ubiquilin 3 [Gene - OMIM - HGNC]
  • UBQLNL:ubiquilin like [Gene - HGNC]
  • USP47:ubiquitin specific peptidase 47 [Gene - OMIM - HGNC]
  • ZBED5:zinc finger BED-type containing 5 [Gene - OMIM - HGNC]
  • ZDHHC13:zinc finger DHHC-type palmitoyltransferase 13 [Gene - OMIM - HGNC]
  • ZNF143:zinc finger protein 143 [Gene - OMIM - HGNC]
  • ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
  • ZNF214:zinc finger protein 214 [Gene - OMIM - HGNC]
  • ZNF215:zinc finger protein 215 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.5-13
Genomic location:
Chr11: 230615 - 31995219 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3
HGVS:
    Links:
    dbVar: nssv13652868; dbVar: nsv2770627
    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
    SCV000584660ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (May 16, 2014)     		unknownclinical 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 1, SCV000584660.1

    #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