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GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 10, 2012
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:
RCV000140659.6

Allele description [Variation Report for GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1]

GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1

Genes:
  • LOC130062072:ATAC-STARR-seq lymphoblastoid active region 13019 [Gene]
  • LOC130062074:ATAC-STARR-seq lymphoblastoid active region 13020 [Gene]
  • LOC130062077:ATAC-STARR-seq lymphoblastoid active region 13022 [Gene]
  • LOC130062080:ATAC-STARR-seq lymphoblastoid active region 13024 [Gene]
  • LOC130062081:ATAC-STARR-seq lymphoblastoid active region 13025 [Gene]
  • LOC130062082:ATAC-STARR-seq lymphoblastoid active region 13026 [Gene]
  • LOC130062085:ATAC-STARR-seq lymphoblastoid active region 13027 [Gene]
  • LOC130062089:ATAC-STARR-seq lymphoblastoid active region 13028 [Gene]
  • LOC130062090:ATAC-STARR-seq lymphoblastoid active region 13029 [Gene]
  • LOC130062091:ATAC-STARR-seq lymphoblastoid active region 13030 [Gene]
  • LOC130062092:ATAC-STARR-seq lymphoblastoid active region 13031 [Gene]
  • LOC130062093:ATAC-STARR-seq lymphoblastoid active region 13032 [Gene]
  • LOC130062094:ATAC-STARR-seq lymphoblastoid active region 13033 [Gene]
  • LOC130062095:ATAC-STARR-seq lymphoblastoid active region 13034 [Gene]
  • LOC130062096:ATAC-STARR-seq lymphoblastoid active region 13035 [Gene]
  • LOC130062098:ATAC-STARR-seq lymphoblastoid active region 13036 [Gene]
  • LOC130062099:ATAC-STARR-seq lymphoblastoid active region 13037 [Gene]
  • LOC130062100:ATAC-STARR-seq lymphoblastoid active region 13038 [Gene]
  • LOC130062101:ATAC-STARR-seq lymphoblastoid active region 13039 [Gene]
  • LOC130062102:ATAC-STARR-seq lymphoblastoid active region 13040 [Gene]
  • LOC130062104:ATAC-STARR-seq lymphoblastoid active region 13041 [Gene]
  • LOC130062105:ATAC-STARR-seq lymphoblastoid active region 13042 [Gene]
  • LOC130062107:ATAC-STARR-seq lymphoblastoid active region 13043 [Gene]
  • LOC130062112:ATAC-STARR-seq lymphoblastoid active region 13047 [Gene]
  • LOC130062113:ATAC-STARR-seq lymphoblastoid active region 13048 [Gene]
  • LOC130062114:ATAC-STARR-seq lymphoblastoid active region 13049 [Gene]
  • LOC130062115:ATAC-STARR-seq lymphoblastoid active region 13050 [Gene]
  • LOC130062116:ATAC-STARR-seq lymphoblastoid active region 13052 [Gene]
  • LOC130062117:ATAC-STARR-seq lymphoblastoid active region 13053 [Gene]
  • LOC130062070:ATAC-STARR-seq lymphoblastoid silent region 9236 [Gene]
  • LOC130062071:ATAC-STARR-seq lymphoblastoid silent region 9237 [Gene]
  • LOC130062073:ATAC-STARR-seq lymphoblastoid silent region 9238 [Gene]
  • LOC130062075:ATAC-STARR-seq lymphoblastoid silent region 9239 [Gene]
  • LOC130062076:ATAC-STARR-seq lymphoblastoid silent region 9242 [Gene]
  • LOC130062078:ATAC-STARR-seq lymphoblastoid silent region 9243 [Gene]
  • LOC130062079:ATAC-STARR-seq lymphoblastoid silent region 9244 [Gene]
  • LOC130062083:ATAC-STARR-seq lymphoblastoid silent region 9246 [Gene]
  • LOC130062084:ATAC-STARR-seq lymphoblastoid silent region 9247 [Gene]
  • LOC130062086:ATAC-STARR-seq lymphoblastoid silent region 9248 [Gene]
  • LOC130062087:ATAC-STARR-seq lymphoblastoid silent region 9249 [Gene]
  • LOC130062088:ATAC-STARR-seq lymphoblastoid silent region 9250 [Gene]
  • LOC130062097:ATAC-STARR-seq lymphoblastoid silent region 9251 [Gene]
  • LOC130062103:ATAC-STARR-seq lymphoblastoid silent region 9252 [Gene]
  • LOC130062106:ATAC-STARR-seq lymphoblastoid silent region 9253 [Gene]
  • LOC130062108:ATAC-STARR-seq lymphoblastoid silent region 9254 [Gene]
  • LOC130062109:ATAC-STARR-seq lymphoblastoid silent region 9255 [Gene]
  • LOC130062110:ATAC-STARR-seq lymphoblastoid silent region 9256 [Gene]
  • LOC130062111:ATAC-STARR-seq lymphoblastoid silent region 9257 [Gene]
  • LOC130062118:ATAC-STARR-seq lymphoblastoid silent region 9258 [Gene]
  • LOC130062119:ATAC-STARR-seq lymphoblastoid silent region 9259 [Gene]
  • LOC126862675:BRD4-independent group 4 enhancer GRCh37_chr18:394012-395211 [Gene]
  • LOC126862678:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:2350584-2351783 [Gene]
  • LOC116276486:CRISPRi-validated cis-regulatory element chr18.117 [Gene]
  • DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
  • DLGAP1-AS1:DLGAP1 antisense RNA 1 [Gene - HGNC]
  • DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
  • DLGAP1-AS3:DLGAP1 antisense RNA 3 [Gene - HGNC]
  • DLGAP1-AS4:DLGAP1 antisense RNA 4 [Gene - HGNC]
  • DLGAP1-AS5:DLGAP1 antisense RNA 5 [Gene - HGNC]
  • LOC126862677:MED14-independent group 3 enhancer GRCh37_chr18:1011056-1012255 [Gene]
  • LOC126862679:MED14-independent group 3 enhancer GRCh37_chr18:2589133-2590332 [Gene]
  • LOC126862680:MED14-independent group 3 enhancer GRCh37_chr18:3384732-3385931 [Gene]
  • LOC112543420:MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783 [Gene]
  • LOC126862676:MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 [Gene]
  • LOC129390951:MPRA-validated peak3036 silencer [Gene]
  • LOC129390952:MPRA-validated peak3040 silencer [Gene]
  • LOC129390953:MPRA-validated peak3042 silencer [Gene]
  • LOC129390954:MPRA-validated peak3043 silencer [Gene]
  • LOC129390955:MPRA-validated peak3044 silencer [Gene]
  • LOC129390956:MPRA-validated peak3045 silencer [Gene]
  • MYL12-AS1:MYL12A and MYL12B antisense RNA 1 [Gene - HGNC]
  • NDC80:NDC80 kinetochore complex component [Gene - OMIM - HGNC]
  • LOC132090486:Neanderthal introgressed variant-containing enhancer experimental_47754 [Gene]
  • LOC132090487:Neanderthal introgressed variant-containing enhancer experimental_47822 [Gene]
  • LOC132090897:Neanderthal introgressed variant-containing enhancer experimental_47861 [Gene]
  • LOC132090489:Neanderthal introgressed variant-containing enhancer experimental_47879 [Gene]
  • LOC126862681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 [Gene]
  • LOC125338470:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 [Gene]
  • LOC112540018:Sharpr-MPRA regulatory region 10665 [Gene]
  • LOC121627821:Sharpr-MPRA regulatory region 11006 [Gene]
  • LOC125338464:Sharpr-MPRA regulatory region 12050 [Gene]
  • LOC112543431:Sharpr-MPRA regulatory region 12053 [Gene]
  • LOC125338461:Sharpr-MPRA regulatory region 14540 [Gene]
  • LOC125338459:Sharpr-MPRA regulatory region 14658 [Gene]
  • LOC125338467:Sharpr-MPRA regulatory region 2253 [Gene]
  • LOC125338465:Sharpr-MPRA regulatory region 3375 [Gene]
  • LOC125338466:Sharpr-MPRA regulatory region 4192 [Gene]
  • LOC112543423:Sharpr-MPRA regulatory region 437 [Gene]
  • LOC112538445:Sharpr-MPRA regulatory region 4434 [Gene]
  • LOC125338468:Sharpr-MPRA regulatory region 485 [Gene]
  • LOC112538442:Sharpr-MPRA regulatory region 5202 [Gene]
  • LOC125338463:Sharpr-MPRA regulatory region 5248 [Gene]
  • LOC125338462:Sharpr-MPRA regulatory region 5473 [Gene]
  • LOC125338471:Sharpr-MPRA regulatory region 6172 [Gene]
  • LOC125338460:Sharpr-MPRA regulatory region 6782 [Gene]
  • LOC125338469:Sharpr-MPRA regulatory region 8249 [Gene]
  • LOC112543419:Sharpr-MPRA regulatory region 9674 [Gene]
  • TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
  • THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
  • TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
  • CETN1:centrin 1 [Gene - OMIM - HGNC]
  • CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
  • COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
  • EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
  • GAPLINC:gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA [Gene - HGNC]
  • LPIN2:lipin 2 [Gene - OMIM - HGNC]
  • LINC01895:long intergenic non-protein coding RNA 1895 [Gene - HGNC]
  • LINC01904:long intergenic non-protein coding RNA 1904 [Gene - HGNC]
  • LINC01925:long intergenic non-protein coding RNA 1925 [Gene - HGNC]
  • LINC00470:long intergenic non-protein coding RNA 470 [Gene - HGNC]
  • METTL4:methyltransferase 4, N6-adenosine [Gene - OMIM - HGNC]
  • MIR6718:microRNA 6718 [Gene - HGNC]
  • MYOM1:myomesin 1 [Gene - OMIM - HGNC]
  • MYL12A:myosin light chain 12A [Gene - HGNC]
  • MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
  • SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
  • TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
  • USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
  • LOC105371967:uncharacterized LOC105371967 [Gene]
Variant type:
copy number loss
Cytogenetic location:
18p11.32-11.31
Genomic location:
Preferred name:
GRCh38/hg38 18p11.32-11.31(chr18:118760-4470508)x1
HGVS:
  • NC_000018.10:g.(?_118760)_(4470508_?)del
  • NC_000018.8:g.(?_108760)_(4460508_?)del
  • NC_000018.9:g.(?_118760)_(4470508_?)del
Links:
dbVar: nssv1610042; dbVar: nsv931878
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
SCV000181373ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 10, 2012) 		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, SCV000181373.4

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

Last Updated: May 7, 2024