GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052507.4

Allele description [Variation Report for GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3]

GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3

Genes:
  • LINC01478:long intergenic non-protein coding RNA 1478 [Gene]
  • PCAT18:prostate cancer associated transcript 18 (non-protein coding) [Gene]
  • MAPK4:mitogen-activated protein kinase 4 [Gene - OMIM]
  • MC4R:melanocortin 4 receptor [Gene - OMIM]
  • CDH20:cadherin 20, type 2 [Gene - OMIM]
  • IMPA2:inositol(myo)-1(or 4)-monophosphatase 2 [Gene - OMIM]
  • METTL4:methyltransferase like 4 [Gene]
  • GRP:gastrin-releasing peptide [Gene - OMIM]
  • LOC102724651:uncharacterized LOC102724651 [Gene]
  • ME2:malic enzyme 2, NAD(+)-dependent, mitochondrial [Gene - OMIM]
  • LINC01544:long intergenic non-protein coding RNA 1544 [Gene]
  • SMAD7:SMAD family member 7 [Gene - OMIM]
  • ESCO1:establishment of sister chromatid cohesion N-acetyltransferase 1 [Gene - OMIM]
  • TIMM21:translocase of inner mitochondrial membrane 21 homolog (yeast) [Gene - OMIM]
  • MYO5B:myosin VB [Gene - OMIM]
  • LOC100192426:uncharacterized LOC100192426 [Gene]
  • LINC01416:long intergenic non-protein coding RNA 1416 [Gene]
  • SERPINB11:serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) [Gene - OMIM]
  • LOC101927606:uncharacterized LOC101927606 [Gene]
  • CXXC1:CXXC finger protein 1 [Gene - OMIM]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 (pituitary) [Gene - OMIM]
  • MEP1B:meprin A, beta [Gene - OMIM]
  • MIR187:microRNA 187 [Gene - OMIM]
  • TYMS:thymidylate synthetase [Gene - OMIM]
  • CEP76:centrosomal protein 76kDa [Gene]
  • SNRPD1:small nuclear ribonucleoprotein D1 polypeptide 16kDa [Gene - OMIM]
  • TUBB6:tubulin, beta 6 class V [Gene - OMIM]
  • CTDP1:CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 [Gene - OMIM]
  • SLC14A2:solute carrier family 14 (urea transporter), member 2 [Gene - OMIM]
  • LOC643542:uncharacterized LOC643542 [Gene]
  • LOC101927651:uncharacterized LOC101927651 [Gene]
  • SIGLEC15:sialic acid binding Ig-like lectin 15 [Gene]
  • GACAT2:gastric cancer associated transcript 2 (non-protein coding) [Gene - OMIM]
  • CTAGE1:cutaneous T-cell lymphoma-associated antigen 1 [Gene - OMIM]
  • TAF4B:TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa [Gene - OMIM]
  • MC2R:melanocortin 2 receptor (adrenocorticotropic hormone) [Gene - OMIM]
  • MRO:maestro [Gene - OMIM]
  • CETN1:centrin, EF-hand protein, 1 [Gene - OMIM]
  • CELF4:CUGBP, Elav-like family member 4 [Gene - OMIM]
  • ABHD3:abhydrolase domain containing 3 [Gene - OMIM]
  • ZBTB7C:zinc finger and BTB domain containing 7C [Gene]
  • TMEM241:transmembrane protein 241 [Gene - OMIM]
  • KCTD1:potassium channel tetramerization domain containing 1 [Gene - OMIM]
  • FBXO15:F-box protein 15 [Gene - OMIM]
  • TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM]
  • ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM]
  • RPRD1A:regulation of nuclear pre-mRNA domain containing 1A [Gene - OMIM]
  • PTPRM:protein tyrosine phosphatase, receptor type, M [Gene - OMIM]
  • DLGAP1:discs, large (Drosophila) homolog-associated protein 1 [Gene - OMIM]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM]
  • VPS4B:vacuolar protein sorting 4 homolog B (S. cerevisiae) [Gene - OMIM]
  • LOC101927322:uncharacterized LOC101927322 [Gene]
  • ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM]
  • MIR320C2:microRNA 320c-2 [Gene]
  • LOC101928167:uncharacterized LOC101928167 [Gene]
  • RNF125:ring finger protein 125, E3 ubiquitin protein ligase [Gene - OMIM]
  • C18orf25:chromosome 18 open reading frame 25 [Gene]
  • LINC01255:long intergenic non-protein coding RNA 1255 [Gene]
  • RAB31:RAB31, member RAS oncogene family [Gene - OMIM]
  • ELP2:elongator acetyltransferase complex subunit 2 [Gene - OMIM]
  • ST8SIA3:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 [Gene - OMIM]
  • DSC1:desmocollin 1 [Gene - OMIM]
  • GALR1:galanin receptor 1 [Gene - OMIM]
  • MIR4743:microRNA 4743 [Gene]
  • LINC01444:long intergenic non-protein coding RNA 1444 [Gene]
  • NAPG:N-ethylmaleimide-sensitive factor attachment protein, gamma [Gene - OMIM]
  • PIEZO2:piezo-type mechanosensitive ion channel component 2 [Gene - OMIM]
  • STARD6:StAR-related lipid transfer (START) domain containing 6 [Gene - OMIM]
  • CDH19:cadherin 19, type 2 [Gene - OMIM]
  • LINC00305:long intergenic non-protein coding RNA 305 [Gene]
  • ADNP2:ADNP homeobox 2 [Gene]
  • EPB41L3:erythrocyte membrane protein band 4.1-like 3 [Gene - OMIM]
  • RIOK3:RIO kinase 3 [Gene - OMIM]
  • RPL17:ribosomal protein L17 [Gene - OMIM]
  • MIR5190:microRNA 5190 [Gene]
  • SERPINB3:serpin peptidase inhibitor, clade B (ovalbumin), member 3 [Gene - OMIM]
  • GATA6-AS1:GATA6 antisense RNA 1 (head to head) [Gene]
  • DSG2-AS1:DSG2 antisense RNA 1 [Gene]
  • SS18:synovial sarcoma translocation, chromosome 18 [Gene - OMIM]
  • TCEB3CL2:transcription elongation factor B polypeptide 3C-like 2 [Gene]
  • MBP:myelin basic protein [Gene - OMIM]
  • NDC80:NDC80 kinetochore complex component [Gene - OMIM]
  • DSG2:desmoglein 2 [Gene - OMIM]
  • TGIF1:TGFB-induced factor homeobox 1 [Gene - OMIM]
  • VAPA:VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa [Gene - OMIM]
  • SNORD58A:small nucleolar RNA, C/D box 58A [Gene]
  • LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM]
  • NDUFV2-AS1:NDUFV2 antisense RNA 1 [Gene]
  • MIR320C1:microRNA 320c-1 [Gene]
  • DLGAP1-AS5:DLGAP1 antisense RNA 5 [Gene]
  • LINC00909:long intergenic non-protein coding RNA 909 [Gene]
  • CDH2:cadherin 2, type 1, N-cadherin (neuronal) [Gene - OMIM]
  • MIR5011:microRNA 5011 [Gene]
  • NARS:asparaginyl-tRNA synthetase [Gene - OMIM]
  • MIR4320:microRNA 4320 [Gene]
  • MIR924:microRNA 924 [Gene]
  • ZNF24:zinc finger protein 24 [Gene - OMIM]
  • HSBP1L1:heat shock factor binding protein 1-like 1 [Gene]
  • CDH7:cadherin 7, type 2 [Gene - OMIM]
  • GATA6:GATA binding protein 6 [Gene - OMIM]
  • FHOD3:formin homology 2 domain containing 3 [Gene - OMIM]
  • MIR1-2:microRNA 1-2 [Gene - OMIM]
  • MYL12A:myosin, light chain 12A, regulatory, non-sarcomeric [Gene]
  • TTC39C-AS1:TTC39C antisense RNA 1 [Gene]
  • TCF4:transcription factor 4 [Gene - OMIM]
  • MAPRE2:microtubule-associated protein, RP/EB family, member 2 [Gene - OMIM]
  • L3MBTL4-AS1:L3MBTL4 antisense RNA 1 [Gene]
  • ATP5A1:ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle [Gene - OMIM]
  • LOXHD1:lipoxygenase homology domains 1 [Gene - OMIM]
  • PSMG2:proteasome (prosome, macropain) assembly chaperone 2 [Gene - OMIM]
  • MIR4741:microRNA 4741 [Gene]
  • CCDC102B:coiled-coil domain containing 102B [Gene]
  • RNF138:ring finger protein 138, E3 ubiquitin protein ligase [Gene - OMIM]
  • C18orf8:chromosome 18 open reading frame 8 [Gene]
  • ZNF519:zinc finger protein 519 [Gene]
  • MIR4319:microRNA 4319 [Gene]
  • LINC00667:long intergenic non-protein coding RNA 667 [Gene]
  • L3MBTL4:l(3)mbt-like 4 (Drosophila) [Gene]
  • C18orf21:chromosome 18 open reading frame 21 [Gene]
  • PSMA8:proteasome (prosome, macropain) subunit, alpha type, 8 [Gene]
  • LINC01254:long intergenic non-protein coding RNA 1254 [Gene]
  • ATP9B:ATPase, class II, type 9B [Gene - OMIM]
  • RPL17-C18orf32:RPL17-C18orf32 readthrough [Gene]
  • GAPLINC:gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA [Gene]
  • SLC14A1:solute carrier family 14 (urea transporter), member 1 (Kidd blood group) [Gene - OMIM]
  • ASXL3:additional sex combs like transcriptional regulator 3 [Gene - OMIM]
  • SYT4:synaptotagmin IV [Gene - OMIM]
  • SNORD58C:small nucleolar RNA, C/D box 58C [Gene]
  • LINC01443:long intergenic non-protein coding RNA 1443 [Gene]
  • PIAS2:protein inhibitor of activated STAT, 2 [Gene - OMIM]
  • DSC2:desmocollin 2 [Gene - OMIM]
  • RBFA:ribosome binding factor A (putative) [Gene]
  • WDR7:WD repeat domain 7 [Gene - OMIM]
  • NOL4:nucleolar protein 4 [Gene - OMIM]
  • LINC00669:long intergenic non-protein coding RNA 669 [Gene]
  • MEX3C:mex-3 RNA binding family member C [Gene - OMIM]
  • CFAP53:cilia and flagella associated protein 53 [Gene - OMIM]
  • THOC1:THO complex 1 [Gene - OMIM]
  • MIR122:microRNA 122 [Gene - OMIM]
  • MOCOS:molybdenum cofactor sulfurase [Gene - OMIM]
  • MIR7153:microRNA 7153 [Gene]
  • LOC100505817:uncharacterized LOC100505817 [Gene]
  • LOC339298:uncharacterized LOC339298 [Gene]
  • ACAA2:acetyl-CoA acyltransferase 2 [Gene - OMIM]
  • BOD1L2:biorientation of chromosomes in cell division 1-like 2 [Gene]
  • SLC14A2-AS1:SLC14A2 antisense RNA 1 [Gene]
  • PPP4R1-AS1:PPP4R1 antisense RNA 1 [Gene]
  • NETO1:neuropilin (NRP) and tolloid (TLL)-like 1 [Gene - OMIM]
  • SERPINB8:serpin peptidase inhibitor, clade B (ovalbumin), member 8 [Gene - OMIM]
  • SEC11C:SEC11 homolog C (S. cerevisiae) [Gene]
  • ST8SIA5:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 [Gene - OMIM]
  • SEH1L:SEH1-like (S. cerevisiae) [Gene - OMIM]
  • DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene]
  • C18orf32:chromosome 18 open reading frame 32 [Gene]
  • MIR4527:microRNA 4527 [Gene]
  • RAB12:RAB12, member RAS oncogene family [Gene]
  • TMEM200C:transmembrane protein 200C [Gene]
  • CCDC178:coiled-coil domain containing 178 [Gene]
  • SERPINB2:serpin peptidase inhibitor, clade B (ovalbumin), member 2 [Gene - OMIM]
  • MIR3929:microRNA 3929 [Gene]
  • LOC100505549:uncharacterized LOC100505549 [Gene]
  • GNAL:guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type [Gene - OMIM]
  • DSG3:desmoglein 3 [Gene - OMIM]
  • SLMO1:slowmo homolog 1 (Drosophila) [Gene]
  • RTTN:rotatin [Gene - OMIM]
  • LINC-ROR:long intergenic non-protein coding RNA, regulator of reprogramming [Gene - OMIM]
  • TTR:transthyretin [Gene - OMIM]
  • RBFADN:RBFA downstream neighbor (non-protein coding) [Gene]
  • KDSR:3-ketodihydrosphingosine reductase [Gene - OMIM]
  • LINC01477:long intergenic non-protein coding RNA 1477 [Gene]
  • LINC01415:long intergenic non-protein coding RNA 1415 [Gene]
  • MIR5583-2:microRNA 5583-2 [Gene]
  • TPGS2:tubulin polyglutamylase complex subunit 2 [Gene]
  • CHMP1B:charged multivesicular body protein 1B [Gene - OMIM]
  • RIT2:Ras-like without CAAX 2 [Gene - OMIM]
  • PTPN2:protein tyrosine phosphatase, non-receptor type 2 [Gene - OMIM]
  • DSG4:desmoglein 4 [Gene - OMIM]
  • SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM]
  • IMPACT:impact RWD domain protein [Gene - OMIM]
  • TNFRSF11A:tumor necrosis factor receptor superfamily, member 11a, NFKB activator [Gene - OMIM]
  • OSBPL1A:oxysterol binding protein-like 1A [Gene - OMIM]
  • FAM210A:family with sequence similarity 210, member A [Gene]
  • SERPINB12:serpin peptidase inhibitor, clade B (ovalbumin), member 12 [Gene - OMIM]
  • HRH4:histamine receptor H4 [Gene - OMIM]
  • LINC01539:long intergenic non-protein coding RNA 1539 [Gene]
  • B4GALT6:UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 [Gene - OMIM]
  • DSG1-AS1:DSG1 antisense RNA 1 [Gene]
  • LOC104968399 [Gene]
  • TXNL1:thioredoxin-like 1 [Gene - OMIM]
  • PIK3C3:phosphatidylinositol 3-kinase, catalytic subunit type 3 [Gene - OMIM]
  • MIB1:mindbomb E3 ubiquitin protein ligase 1 [Gene - OMIM]
  • LINC01541:long intergenic non-protein coding RNA 1541 [Gene]
  • MIR6718:microRNA 6718 [Gene]
  • AQP4-AS1:AQP4 antisense RNA 1 [Gene]
  • FAM69C:family with sequence similarity 69, member C [Gene - OMIM]
  • TRK-CTT6-1:transfer RNA-Lys (CTT) 6-1 [Gene]
  • LDLRAD4-AS1:LDLRAD4 antisense RNA 1 [Gene]
  • LAMA1:laminin, alpha 1 [Gene - OMIM]
  • MBD2:methyl-CpG binding domain protein 2 [Gene - OMIM]
  • USP14:ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) [Gene - OMIM]
  • MIR6788:microRNA 6788 [Gene]
  • HAUS1:HAUS augmin-like complex, subunit 1 [Gene - OMIM]
  • DOK6:docking protein 6 [Gene - OMIM]
  • PQLC1:PQ loop repeat containing 1 [Gene]
  • COLEC12:collectin sub-family member 12 [Gene - OMIM]
  • MIR548AV:microRNA 548av [Gene]
  • LOC400661:uncharacterized LOC400661 [Gene]
  • CD226:CD226 molecule [Gene - OMIM]
  • MIR8057:microRNA 8057 [Gene]
  • DTNA:dystrobrevin, alpha [Gene - OMIM]
  • LRRC30:leucine rich repeat containing 30 [Gene]
  • MYL12B:myosin, light chain 12B, regulatory [Gene - OMIM]
  • LOC102724913:uncharacterized LOC102724913 [Gene]
  • CNDP1:carnosine dipeptidase 1 (metallopeptidase M20 family) [Gene - OMIM]
  • MIR4744:microRNA 4744 [Gene]
  • SMAD4:SMAD family member 4 [Gene - OMIM]
  • IER3IP1:immediate early response 3 interacting protein 1 [Gene - OMIM]
  • MIR4317:microRNA 4317 [Gene]
  • RAB27B:RAB27B, member RAS oncogene family [Gene - OMIM]
  • HDHD2:haloacid dehalogenase-like hydrolase domain containing 2 [Gene]
  • PSTPIP2:proline-serine-threonine phosphatase interacting protein 2 [Gene - OMIM]
  • LOC284294:uncharacterized LOC284294 [Gene]
  • SOCS6:suppressor of cytokine signaling 6 [Gene - OMIM]
  • RNMT:RNA (guanine-7-) methyltransferase [Gene - OMIM]
  • RAX:retina and anterior neural fold homeobox [Gene - OMIM]
  • AQP4:aquaporin 4 [Gene - OMIM]
  • SERPINB13:serpin peptidase inhibitor, clade B (ovalbumin), member 13 [Gene - OMIM]
  • CYB5A:cytochrome b5 type A (microsomal) [Gene - OMIM]
  • MIR302F:microRNA 302f [Gene]
  • MBD1:methyl-CpG binding domain protein 1 [Gene - OMIM]
  • LAMA3:laminin, alpha 3 [Gene - OMIM]
  • GAREM:GRB2 associated, regulator of MAPK1 [Gene]
  • LINC00907:long intergenic non-protein coding RNA 907 [Gene]
  • LOC400655:uncharacterized LOC400655 [Gene]
  • KLHL14:kelch-like family member 14 [Gene - OMIM]
  • SERPINB5:serpin peptidase inhibitor, clade B (ovalbumin), member 5 [Gene - OMIM]
  • LINC01029:long intergenic non-protein coding RNA 1029 [Gene]
  • BCL2:B-cell CLL/lymphoma 2 [Gene - OMIM]
  • RNU6-39P:RNA, U6 small nuclear 39, pseudogene [Gene]
  • TMX3:thioredoxin-related transmembrane protein 3 [Gene - OMIM]
  • DSC3:desmocollin 3 [Gene - OMIM]
  • MC5R:melanocortin 5 receptor [Gene - OMIM]
  • DLGAP1-AS1:DLGAP1 antisense RNA 1 [Gene]
  • ALPK2:alpha-kinase 2 [Gene]
  • HMSD:histocompatibility (minor) serpin domain containing [Gene - OMIM]
  • CCDC68:coiled-coil domain containing 68 [Gene]
  • TYMSOS:TYMS opposite strand [Gene]
  • CBLN2:cerebellin 2 precursor [Gene - OMIM]
  • DYNAP:dynactin associated protein [Gene]
  • CHST9:carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 [Gene - OMIM]
  • CABLES1:Cdk5 and Abl enzyme substrate 1 [Gene - OMIM]
  • LOC101927188:uncharacterized LOC101927188 [Gene]
  • MTCL1:microtubule crosslinking factor 1 [Gene - OMIM]
  • TCEB3C:transcription elongation factor B polypeptide 3C (elongin A3) [Gene]
  • LMAN1:lectin, mannose-binding, 1 [Gene - OMIM]
  • AFG3L2:AFG3-like AAA ATPase 2 [Gene - OMIM]
  • LOC100131655:uncharacterized LOC100131655 [Gene]
  • CLUL1:clusterin-like 1 (retinal) [Gene]
  • PIGN:phosphatidylinositol glycan anchor biosynthesis, class N [Gene - OMIM]
  • LOC101927481:uncharacterized LOC101927481 [Gene]
  • MALT1:MALT1 paracaspase [Gene - OMIM]
  • SNORA37:small nucleolar RNA, H/ACA box 37 [Gene]
  • ONECUT2:one cut homeobox 2 [Gene - OMIM]
  • SMAD2:SMAD family member 2 [Gene - OMIM]
  • LIPG:lipase, endothelial [Gene - OMIM]
  • ZNF532:zinc finger protein 532 [Gene]
  • MIR5583-1:microRNA 5583-1 [Gene]
  • TCEB3B:transcription elongation factor B polypeptide 3B (elongin A2) [Gene - OMIM]
  • CABYR:calcium binding tyrosine-(Y)-phosphorylation regulated [Gene - OMIM]
  • MIR4526:microRNA 4526 [Gene]
  • LOC101927571:uncharacterized LOC101927571 [Gene]
  • SCARNA17:small Cajal body-specific RNA 17 [Gene - OMIM]
  • ZNF236:zinc finger protein 236 [Gene - OMIM]
  • ELAC1:elaC ribonuclease Z 1 [Gene - OMIM]
  • LINC00526:long intergenic non-protein coding RNA 526 [Gene]
  • KC6:keratoconus gene 6 [Gene]
  • DLGAP1-AS3:DLGAP1 antisense RNA 3 [Gene]
  • ANKRD62:ankyrin repeat domain 62 [Gene]
  • APCDD1:adenomatosis polyposis coli down-regulated 1 [Gene - OMIM]
  • PPP4R1:protein phosphatase 4, regulatory subunit 1 [Gene - OMIM]
  • TCEB3CL:transcription elongation factor B polypeptide 3C-like [Gene]
  • ZNF396:zinc finger protein 396 [Gene - OMIM]
  • LINC00908:long intergenic non-protein coding RNA 908 [Gene]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM]
  • ANKRD12:ankyrin repeat domain 12 [Gene - OMIM]
  • LINC00470:long intergenic non-protein coding RNA 470 [Gene]
  • C18orf42:chromosome 18 open reading frame 42 [Gene - OMIM]
  • LOC101927229:uncharacterized LOC101927229 [Gene]
  • SALL3:spalt-like transcription factor 3 [Gene - OMIM]
  • RNF165:ring finger protein 165 [Gene]
  • TRAPPC8:trafficking protein particle complex 8 [Gene - OMIM]
  • TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM]
  • ANKRD30B:ankyrin repeat domain 30B [Gene]
  • PHLPP1:PH domain and leucine rich repeat protein phosphatase 1 [Gene - OMIM]
  • ZSCAN30:zinc finger and SCAN domain containing 30 [Gene]
  • ATP8B1:ATPase, aminophospholipid transporter, class I, type 8B, member 1 [Gene - OMIM]
  • C18orf61:uncharacterized LOC497259 [Gene]
  • MIR4529:microRNA 4529 [Gene]
  • LPIN2:lipin 2 [Gene - OMIM]
  • LOC100287225:uncharacterized LOC100287225 [Gene]
  • SNORD58B:small nucleolar RNA, C/D box 58B [Gene]
  • NDUFV2:NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa [Gene - OMIM]
  • CPLX4:complexin 4 [Gene - OMIM]
  • C18orf12:chromosome 18 open reading frame 12 [Gene]
  • MIR4528:microRNA 4528 [Gene]
  • MIR3976HG:MIR3976 host gene [Gene]
  • LINC00668:long intergenic non-protein coding RNA 668 [Gene]
  • MIR1539:microRNA 1539 [Gene]
  • MYOM1:myomesin 1 [Gene - OMIM]
  • LOC101927410:uncharacterized LOC101927410 [Gene]
  • NFATC1:nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 [Gene - OMIM]
  • MIR3156-2:microRNA 3156-2 [Gene]
  • FECH:ferrochelatase [Gene - OMIM]
  • NPC1:Niemann-Pick disease, type C1 [Gene - OMIM]
  • SKA1:spindle and kinetochore associated complex subunit 1 [Gene]
  • ZCCHC2:zinc finger, CCHC domain containing 2 [Gene]
  • CCBE1:collagen and calcium binding EGF domains 1 [Gene - OMIM]
  • SERPINB7:serpin peptidase inhibitor, clade B (ovalbumin), member 7 [Gene - OMIM]
  • ZNF521:zinc finger protein 521 [Gene - OMIM]
  • POLI:polymerase (DNA directed) iota [Gene - OMIM]
  • LINC00683:long intergenic non-protein coding RNA 683 [Gene]
  • SERPINB10:serpin peptidase inhibitor, clade B (ovalbumin), member 10 [Gene - OMIM]
  • CEP192:centrosomal protein 192kDa [Gene - OMIM]
  • MPPE1:metallophosphoesterase 1 [Gene - OMIM]
  • LOC729950:uncharacterized LOC729950 [Gene]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM]
  • EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM]
  • SLC25A52:solute carrier family 25, member 52 [Gene - OMIM]
  • DSEL:dermatan sulfate epimerase-like [Gene - OMIM]
  • LOC100129878:uncharacterized LOC100129878 [Gene]
  • MIR4318:microRNA 4318 [Gene]
  • SPIRE1:spire-type actin nucleation factor 1 [Gene - OMIM]
  • SKOR2:SKI family transcriptional corepressor 2 [Gene]
  • MIR133A1:microRNA 133a-1 [Gene - OMIM]
  • DCC:DCC netrin 1 receptor [Gene - OMIM]
  • EPG5:ectopic P-granules autophagy protein 5 homolog (C. elegans) [Gene - OMIM]
  • LINC01543:long intergenic non-protein coding RNA 1543 [Gene]
  • SERPINB4:serpin peptidase inhibitor, clade B (ovalbumin), member 4 [Gene - OMIM]
  • SLC39A6:solute carrier family 39 (zinc transporter), member 6 [Gene - OMIM]
  • TTC39C:tetratricopeptide repeat domain 39C [Gene]
  • CTIF:CBP80/20-dependent translation initiation factor [Gene - OMIM]
  • PARD6G-AS1:PARD6G antisense RNA 1 [Gene]
  • ZNF516:zinc finger protein 516 [Gene - OMIM]
  • ZNF397:zinc finger protein 397 [Gene - OMIM]
  • INO80C:INO80 complex subunit C [Gene]
  • GALNT1:polypeptide N-acetylgalactosaminyltransferase 1 [Gene - OMIM]
  • MIR3976:microRNA 3976 [Gene]
  • ROCK1:Rho-associated, coiled-coil containing protein kinase 1 [Gene - OMIM]
  • RNF152:ring finger protein 152 [Gene]
  • PMAIP1:phorbol-12-myristate-13-acetate-induced protein 1 [Gene - OMIM]
  • MIR133A1HG:MIR133A1 host gene (non-protein coding) [Gene]
  • ANKRD29:ankyrin repeat domain 29 [Gene]
  • DSCAS:DSC1/DSC2 antisense RNA [Gene]
  • TXNDC2:thioredoxin domain containing 2 (spermatozoa) [Gene]
  • C18orf54:chromosome 18 open reading frame 54 [Gene - OMIM]
  • TXNL4A:thioredoxin-like 4A [Gene - OMIM]
  • C18orf63:chromosome 18 open reading frame 63 [Gene]
  • LOC101060542:uncharacterized LOC101060542 [Gene]
  • LINC01538:long intergenic non-protein coding RNA 1538 [Gene]
  • ZADH2:zinc binding alcohol dehydrogenase domain containing 2 [Gene]
  • SMIM21:small integral membrane protein 21 [Gene]
  • RALBP1:ralA binding protein 1 [Gene - OMIM]
  • KCNG2:potassium channel, voltage gated modifier subfamily G, member 2 [Gene - OMIM]
  • SETBP1:SET binding protein 1 [Gene - OMIM]
  • GREB1L:growth regulation by estrogen in breast cancer-like [Gene]
  • GTSCR1:Gilles de la Tourette syndrome chromosome region, candidate 1 (non-protein coding) [Gene]
  • DYM:dymeclin [Gene - OMIM]
  • LOC100996324:uncharacterized LOC100996324 [Gene]
  • MIR3591:microRNA 3591 [Gene]
  • ZNF407:zinc finger protein 407 [Gene - OMIM]
  • KATNAL2:katanin p60 subunit A-like 2 [Gene - OMIM]
  • DSG1:desmoglein 1 [Gene - OMIM]
  • POTEC:POTE ankyrin domain family, member C [Gene]
  • RBBP8:retinoblastoma binding protein 8 [Gene - OMIM]
  • MIR3975:microRNA 3975 [Gene]
  • C18orf65:chromosome 18 open reading frame 65 [Gene]
  • CIDEA:cell death-inducing DFFA-like effector a [Gene - OMIM]
  • DLGAP1-AS4:DLGAP1 antisense RNA 4 [Gene]
  • CNDP2:CNDP dipeptidase 2 (metallopeptidase M20 family) [Gene - OMIM]
  • ZNF271P:zinc finger protein 271, pseudogene [Gene - OMIM]
  • NEDD4L:neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase [Gene - OMIM]
Variant type:
copy number gain
Cytogenetic location:
18p11.32-q23
Genomic location:
Preferred name:
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3
HGVS:
  • NC_000018.10:g.(?_148763)_(80252290_?)dup
  • NC_000018.8:g.(?_138763)_(76111164_?)dup
  • NC_000018.9:g.(?_148763)_(78010173_?)dup
Links:
dbVar: nsv531215
Observations:
2

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000079861ISCA site 13

See additional submitters

criteria provided, single submitter
(Submitter's publication)
Pathogenic
(Aug 12, 2011)
not providedclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000079861

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 13, SCV000079861.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Jul 13, 2015