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GRCh38/hg38 18q23(chr18:76635470-80252149)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000142580.5

Allele description

GRCh38/hg38 18q23(chr18:76635470-80252149)x1

Genes:
  • ADNP2:ADNP homeobox 2 [Gene - OMIM - HGNC]
  • LOC130062740:ATAC-STARR-seq lymphoblastoid active region 13512 [Gene]
  • LOC130062742:ATAC-STARR-seq lymphoblastoid active region 13513 [Gene]
  • LOC130062744:ATAC-STARR-seq lymphoblastoid active region 13514 [Gene]
  • LOC130062745:ATAC-STARR-seq lymphoblastoid active region 13515 [Gene]
  • LOC130062749:ATAC-STARR-seq lymphoblastoid active region 13516 [Gene]
  • LOC130062750:ATAC-STARR-seq lymphoblastoid active region 13521 [Gene]
  • LOC130062751:ATAC-STARR-seq lymphoblastoid active region 13522 [Gene]
  • LOC130062752:ATAC-STARR-seq lymphoblastoid active region 13523 [Gene]
  • LOC130062753:ATAC-STARR-seq lymphoblastoid active region 13524 [Gene]
  • LOC130062754:ATAC-STARR-seq lymphoblastoid active region 13526 [Gene]
  • LOC130062755:ATAC-STARR-seq lymphoblastoid active region 13527 [Gene]
  • LOC130062757:ATAC-STARR-seq lymphoblastoid active region 13528 [Gene]
  • LOC130062758:ATAC-STARR-seq lymphoblastoid active region 13529 [Gene]
  • LOC130062759:ATAC-STARR-seq lymphoblastoid active region 13530 [Gene]
  • LOC130062760:ATAC-STARR-seq lymphoblastoid active region 13531 [Gene]
  • LOC130062761:ATAC-STARR-seq lymphoblastoid active region 13532 [Gene]
  • LOC130062762:ATAC-STARR-seq lymphoblastoid active region 13533 [Gene]
  • LOC130062764:ATAC-STARR-seq lymphoblastoid active region 13534 [Gene]
  • LOC130062765:ATAC-STARR-seq lymphoblastoid active region 13535 [Gene]
  • LOC130062768:ATAC-STARR-seq lymphoblastoid active region 13536 [Gene]
  • LOC130062771:ATAC-STARR-seq lymphoblastoid active region 13537 [Gene]
  • LOC130062773:ATAC-STARR-seq lymphoblastoid active region 13538 [Gene]
  • LOC130062777:ATAC-STARR-seq lymphoblastoid active region 13539 [Gene]
  • LOC130062778:ATAC-STARR-seq lymphoblastoid active region 13540 [Gene]
  • LOC130062780:ATAC-STARR-seq lymphoblastoid active region 13541 [Gene]
  • LOC130062781:ATAC-STARR-seq lymphoblastoid active region 13542 [Gene]
  • LOC130062782:ATAC-STARR-seq lymphoblastoid active region 13543 [Gene]
  • LOC130062783:ATAC-STARR-seq lymphoblastoid active region 13544 [Gene]
  • LOC130062785:ATAC-STARR-seq lymphoblastoid active region 13545 [Gene]
  • LOC130062792:ATAC-STARR-seq lymphoblastoid active region 13547 [Gene]
  • LOC130062799:ATAC-STARR-seq lymphoblastoid active region 13548 [Gene]
  • LOC130062802:ATAC-STARR-seq lymphoblastoid active region 13549 [Gene]
  • LOC130062803:ATAC-STARR-seq lymphoblastoid active region 13550 [Gene]
  • LOC130062741:ATAC-STARR-seq lymphoblastoid silent region 9558 [Gene]
  • LOC130062743:ATAC-STARR-seq lymphoblastoid silent region 9559 [Gene]
  • LOC130062746:ATAC-STARR-seq lymphoblastoid silent region 9560 [Gene]
  • LOC130062747:ATAC-STARR-seq lymphoblastoid silent region 9561 [Gene]
  • LOC130062748:ATAC-STARR-seq lymphoblastoid silent region 9562 [Gene]
  • LOC130062756:ATAC-STARR-seq lymphoblastoid silent region 9563 [Gene]
  • LOC130062763:ATAC-STARR-seq lymphoblastoid silent region 9564 [Gene]
  • LOC130062766:ATAC-STARR-seq lymphoblastoid silent region 9565 [Gene]
  • LOC130062767:ATAC-STARR-seq lymphoblastoid silent region 9566 [Gene]
  • LOC130062769:ATAC-STARR-seq lymphoblastoid silent region 9568 [Gene]
  • LOC130062770:ATAC-STARR-seq lymphoblastoid silent region 9569 [Gene]
  • LOC130062772:ATAC-STARR-seq lymphoblastoid silent region 9570 [Gene]
  • LOC130062774:ATAC-STARR-seq lymphoblastoid silent region 9571 [Gene]
  • LOC130062775:ATAC-STARR-seq lymphoblastoid silent region 9573 [Gene]
  • LOC130062776:ATAC-STARR-seq lymphoblastoid silent region 9574 [Gene]
  • LOC130062779:ATAC-STARR-seq lymphoblastoid silent region 9575 [Gene]
  • LOC130062784:ATAC-STARR-seq lymphoblastoid silent region 9576 [Gene]
  • LOC130062786:ATAC-STARR-seq lymphoblastoid silent region 9578 [Gene]
  • LOC130062787:ATAC-STARR-seq lymphoblastoid silent region 9579 [Gene]
  • LOC130062788:ATAC-STARR-seq lymphoblastoid silent region 9580 [Gene]
  • LOC130062789:ATAC-STARR-seq lymphoblastoid silent region 9581 [Gene]
  • LOC130062790:ATAC-STARR-seq lymphoblastoid silent region 9582 [Gene]
  • LOC130062791:ATAC-STARR-seq lymphoblastoid silent region 9583 [Gene]
  • LOC130062793:ATAC-STARR-seq lymphoblastoid silent region 9584 [Gene]
  • LOC130062794:ATAC-STARR-seq lymphoblastoid silent region 9585 [Gene]
  • LOC130062795:ATAC-STARR-seq lymphoblastoid silent region 9586 [Gene]
  • LOC130062796:ATAC-STARR-seq lymphoblastoid silent region 9587 [Gene]
  • LOC130062797:ATAC-STARR-seq lymphoblastoid silent region 9589 [Gene]
  • LOC130062798:ATAC-STARR-seq lymphoblastoid silent region 9590 [Gene]
  • LOC130062800:ATAC-STARR-seq lymphoblastoid silent region 9592 [Gene]
  • LOC130062801:ATAC-STARR-seq lymphoblastoid silent region 9593 [Gene]
  • LOC130062804:ATAC-STARR-seq lymphoblastoid silent region 9594 [Gene]
  • LOC130062805:ATAC-STARR-seq lymphoblastoid silent region 9595 [Gene]
  • ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
  • LOC126862813:BRD4-independent group 4 enhancer GRCh37_chr18:74748403-74749602 [Gene]
  • LOC126862818:BRD4-independent group 4 enhancer GRCh37_chr18:75535169-75536368 [Gene]
  • LOC126862823:BRD4-independent group 4 enhancer GRCh37_chr18:76336458-76337657 [Gene]
  • LOC126862826:BRD4-independent group 4 enhancer GRCh37_chr18:76610953-76612152 [Gene]
  • LOC126862827:BRD4-independent group 4 enhancer GRCh37_chr18:76669815-76671014 [Gene]
  • LOC126862829:BRD4-independent group 4 enhancer GRCh37_chr18:76766909-76768108 [Gene]
  • LOC126862833:BRD4-independent group 4 enhancer GRCh37_chr18:77585975-77587174 [Gene]
  • LOC126862834:BRD4-independent group 4 enhancer GRCh37_chr18:77808538-77809737 [Gene]
  • LOC126862812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:74700218-74701417 [Gene]
  • LOC126862817:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75115171-75116370 [Gene]
  • LOC126862820:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:75936086-75937285 [Gene]
  • LOC126862822:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76302140-76303339 [Gene]
  • LOC126862825:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:76406811-76408010 [Gene]
  • LOC126862832:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:77330216-77331415 [Gene]
  • LOC129456126:CRISPR/Cas9-targeted silencer 8 [Gene]
  • CTDP1:CTD phosphatase subunit 1 [Gene - OMIM - HGNC]
  • CTDP1-DT:CTDP1 divergent transcript [Gene - HGNC]
  • LOC126862814:MED14-independent group 3 enhancer GRCh37_chr18:74776675-74777874 [Gene]
  • LOC126862815:MED14-independent group 3 enhancer GRCh37_chr18:74938546-74939745 [Gene]
  • LOC126862816:MED14-independent group 3 enhancer GRCh37_chr18:75065347-75066546 [Gene]
  • LOC126862819:MED14-independent group 3 enhancer GRCh37_chr18:75844334-75845533 [Gene]
  • LOC126862828:MED14-independent group 3 enhancer GRCh37_chr18:76686389-76687588 [Gene]
  • LOC126862830:MED14-independent group 3 enhancer GRCh37_chr18:77005320-77006519 [Gene]
  • LOC129391006:MPRA-validated peak3188 silencer [Gene]
  • LOC129391007:MPRA-validated peak3193 silencer [Gene]
  • LOC129391008:MPRA-validated peak3194 silencer [Gene]
  • LOC132090529:Neanderthal introgressed variant-containing enhancer experimental_50500 [Gene]
  • LOC132090530:Neanderthal introgressed variant-containing enhancer experimental_50638 [Gene]
  • LOC132090901:Neanderthal introgressed variant-containing enhancer experimental_50709 [Gene]
  • LOC126862821:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76254093-76255292 [Gene]
  • LOC126862824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:76391650-76392849 [Gene]
  • LOC126862831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:77121413-77122612 [Gene]
  • PARD6G-AS1:PARD6G antisense RNA 1 [Gene - HGNC]
  • RBFADN:RBFA downstream neighbor [Gene - HGNC]
  • LOC121852970:Sharpr-MPRA regulatory region 1017 [Gene]
  • LOC125371443:Sharpr-MPRA regulatory region 11655 [Gene]
  • LOC125371442:Sharpr-MPRA regulatory region 1467 [Gene]
  • LOC121627841:Sharpr-MPRA regulatory region 15651 [Gene]
  • LOC125371441:Sharpr-MPRA regulatory region 926 [Gene]
  • LOC110121312:VISTA enhancer hs1011 [Gene]
  • LOC110121314:VISTA enhancer hs1020 [Gene]
  • LOC110121318:VISTA enhancer hs1056 [Gene]
  • LOC110121330:VISTA enhancer hs1186 [Gene]
  • LOC110120915:VISTA enhancer hs634 [Gene]
  • LOC110120931:VISTA enhancer hs775 [Gene]
  • ZNF236-DT:ZNF236 divergent transcript [Gene - HGNC]
  • GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
  • HSBP1L1:heat shock factor binding protein 1 like 1 [Gene - HGNC]
  • LINC01029:long intergenic non-protein coding RNA 1029 [Gene - HGNC]
  • LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
  • LINC01896:long intergenic non-protein coding RNA 1896 [Gene - HGNC]
  • LINC01927:long intergenic non-protein coding RNA 1927 [Gene - HGNC]
  • MBP:myelin basic protein [Gene - OMIM - HGNC]
  • NFATC1:nuclear factor of activated T cells 1 [Gene - OMIM - HGNC]
  • LOC124904333:octapeptide-repeat protein T2 [Gene]
  • PARD6G:par-6 family cell polarity regulator gamma [Gene - OMIM - HGNC]
  • KCNG2:potassium voltage-gated channel modifier subfamily G member 2 [Gene - OMIM - HGNC]
  • RBFA:ribosome binding factor A [Gene - HGNC]
  • SLC66A2:solute carrier family 66 member 2 [Gene - HGNC]
  • SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
  • TXNL4A:thioredoxin like 4A [Gene - OMIM - HGNC]
  • LOC105372228:uncharacterized LOC105372228 [Gene]
  • LOC284240:uncharacterized LOC284240 [Gene]
  • ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18q23
Genomic location:
Preferred name:
GRCh38/hg38 18q23(chr18:76635470-80252149)x1
HGVS:
  • NC_000018.10:g.(?_76635470)_(80252149_?)del
  • NC_000018.8:g.(?_72476415)_(76111023_?)del
  • NC_000018.9:g.(?_74347427)_(78010032_?)del
Links:
dbVar: nssv582686; dbVar: nsv533033
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
SCV000175758ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical 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, SCV000175758.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023