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GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000053906.4

Allele description [Variation Report for GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1]

GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1

Genes:
  • LOC130062714:ATAC-STARR-seq lymphoblastoid active region 13495 [Gene]
  • LOC130062716:ATAC-STARR-seq lymphoblastoid active region 13496 [Gene]
  • LOC130062717:ATAC-STARR-seq lymphoblastoid active region 13497 [Gene]
  • LOC130062718:ATAC-STARR-seq lymphoblastoid active region 13498 [Gene]
  • LOC130062719:ATAC-STARR-seq lymphoblastoid active region 13499 [Gene]
  • LOC130062720:ATAC-STARR-seq lymphoblastoid active region 13500 [Gene]
  • LOC130062722:ATAC-STARR-seq lymphoblastoid active region 13501 [Gene]
  • LOC130062723:ATAC-STARR-seq lymphoblastoid active region 13502 [Gene]
  • LOC130062724:ATAC-STARR-seq lymphoblastoid active region 13503 [Gene]
  • LOC130062725:ATAC-STARR-seq lymphoblastoid active region 13504 [Gene]
  • LOC130062727:ATAC-STARR-seq lymphoblastoid active region 13506 [Gene]
  • LOC130062729:ATAC-STARR-seq lymphoblastoid active region 13507 [Gene]
  • LOC130062734:ATAC-STARR-seq lymphoblastoid active region 13508 [Gene]
  • LOC130062735:ATAC-STARR-seq lymphoblastoid active region 13509 [Gene]
  • LOC130062739:ATAC-STARR-seq lymphoblastoid active region 13510 [Gene]
  • 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]
  • LOC130062715:ATAC-STARR-seq lymphoblastoid silent region 9542 [Gene]
  • LOC130062721:ATAC-STARR-seq lymphoblastoid silent region 9545 [Gene]
  • LOC130062726:ATAC-STARR-seq lymphoblastoid silent region 9549 [Gene]
  • LOC130062728:ATAC-STARR-seq lymphoblastoid silent region 9550 [Gene]
  • LOC130062730:ATAC-STARR-seq lymphoblastoid silent region 9551 [Gene]
  • LOC130062731:ATAC-STARR-seq lymphoblastoid silent region 9552 [Gene]
  • LOC130062732:ATAC-STARR-seq lymphoblastoid silent region 9553 [Gene]
  • LOC130062733:ATAC-STARR-seq lymphoblastoid silent region 9554 [Gene]
  • LOC130062736:ATAC-STARR-seq lymphoblastoid silent region 9555 [Gene]
  • LOC130062737:ATAC-STARR-seq lymphoblastoid silent region 9556 [Gene]
  • LOC130062738:ATAC-STARR-seq lymphoblastoid silent region 9557 [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]
  • ATP9B:ATPase phospholipid transporting 9B (putative) [Gene - OMIM - HGNC]
  • LOC126862799:BRD4-independent group 4 enhancer GRCh37_chr18:72517901-72519100 [Gene]
  • LOC126862802:BRD4-independent group 4 enhancer GRCh37_chr18:72947291-72948490 [Gene]
  • LOC126862804:BRD4-independent group 4 enhancer GRCh37_chr18:73141751-73142950 [Gene]
  • LOC126862806:BRD4-independent group 4 enhancer GRCh37_chr18:73337297-73338496 [Gene]
  • LOC126862809:BRD4-independent group 4 enhancer GRCh37_chr18:73843050-73844249 [Gene]
  • 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]
  • 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]
  • LOC116276492:CRISPRi-validated cis-regulatory element chr18.1476 [Gene]
  • LOC126862798:MED14-independent group 3 enhancer GRCh37_chr18:72345358-72346557 [Gene]
  • LOC126862807:MED14-independent group 3 enhancer GRCh37_chr18:73423789-73424988 [Gene]
  • LOC126862808:MED14-independent group 3 enhancer GRCh37_chr18:73766732-73767931 [Gene]
  • LOC126862810:MED14-independent group 3 enhancer GRCh37_chr18:73920680-73921879 [Gene]
  • LOC126862811:MED14-independent group 3 enhancer GRCh37_chr18:74188803-74190002 [Gene]
  • 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]
  • LOC129391005:MPRA-validated peak3184 silencer [Gene]
  • LOC129391006:MPRA-validated peak3188 silencer [Gene]
  • LOC129391007:MPRA-validated peak3193 silencer [Gene]
  • LOC129391008:MPRA-validated peak3194 silencer [Gene]
  • LOC132090900:Neanderthal introgressed variant-containing enhancer experimental_50263 [Gene]
  • LOC132090519:Neanderthal introgressed variant-containing enhancer experimental_50279 [Gene]
  • LOC132090520:Neanderthal introgressed variant-containing enhancer experimental_50293 [Gene]
  • LOC132090521:Neanderthal introgressed variant-containing enhancer experimental_50301 [Gene]
  • LOC132090522:Neanderthal introgressed variant-containing enhancer experimental_50303 [Gene]
  • LOC132090523:Neanderthal introgressed variant-containing enhancer experimental_50307 [Gene]
  • LOC132090524:Neanderthal introgressed variant-containing enhancer experimental_50330 [Gene]
  • LOC132090525:Neanderthal introgressed variant-containing enhancer experimental_50334 [Gene]
  • LOC132090526:Neanderthal introgressed variant-containing enhancer experimental_50341 [Gene]
  • LOC132090527:Neanderthal introgressed variant-containing enhancer experimental_50347 [Gene]
  • LOC132090528:Neanderthal introgressed variant-containing enhancer experimental_50380 [Gene]
  • LOC132090529:Neanderthal introgressed variant-containing enhancer experimental_50500 [Gene]
  • LOC132211114:Neanderthal introgressed variant-containing enhancers experimental_50353 and experimental_50354 [Gene]
  • LOC126862800:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72641053-72642252 [Gene]
  • LOC126862801:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72782275-72783474 [Gene]
  • LOC126862803:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73120415-73121614 [Gene]
  • LOC126862805:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:73201370-73202569 [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]
  • LOC121627839:Sharpr-MPRA regulatory region 12176 [Gene]
  • LOC121627840:Sharpr-MPRA regulatory region 3936 [Gene]
  • LOC125371440:Sharpr-MPRA regulatory region 8201 [Gene]
  • LOC125371441:Sharpr-MPRA regulatory region 926 [Gene]
  • LOC125371439:Sharpr-MPRA regulatory region 9768 [Gene]
  • LOC110121312:VISTA enhancer hs1011 [Gene]
  • LOC110121314:VISTA enhancer hs1020 [Gene]
  • LOC110121318:VISTA enhancer hs1056 [Gene]
  • LOC110121330:VISTA enhancer hs1186 [Gene]
  • LOC110120868:VISTA enhancer hs378 [Gene]
  • LOC110120915:VISTA enhancer hs634 [Gene]
  • LOC110120931:VISTA enhancer hs775 [Gene]
  • LOC110120935:VISTA enhancer hs824 [Gene]
  • ZNF236-DT:ZNF236 divergent transcript [Gene - HGNC]
  • ZNF407-AS1:ZNF407 antisense RNA 1 [Gene - HGNC]
  • ZNF516-AS1:ZNF516 antisense RNA 1 [Gene - HGNC]
  • ZNF516-DT:ZNF516 divergent transcript [Gene - HGNC]
  • CNDP1:carnosine dipeptidase 1 [Gene - OMIM - HGNC]
  • CNDP2:carnosine dipeptidase 2 [Gene - OMIM - HGNC]
  • C18orf63:chromosome 18 open reading frame 63 [Gene - HGNC]
  • CYB5A:cytochrome b5 type A [Gene - OMIM - HGNC]
  • DIPK1C:divergent protein kinase domain 1C [Gene - OMIM - HGNC]
  • GALR1:galanin receptor 1 [Gene - OMIM - HGNC]
  • LINC01029:long intergenic non-protein coding RNA 1029 [Gene - HGNC]
  • LINC01879:long intergenic non-protein coding RNA 1879 [Gene - HGNC]
  • LINC01893:long intergenic non-protein coding RNA 1893 [Gene - HGNC]
  • LINC01896:long intergenic non-protein coding RNA 1896 [Gene - HGNC]
  • LINC01898:long intergenic non-protein coding RNA 1898 [Gene - HGNC]
  • LINC01922:long intergenic non-protein coding RNA 1922 [Gene - HGNC]
  • LINC01927:long intergenic non-protein coding RNA 1927 [Gene - HGNC]
  • LINC00683:long intergenic non-protein coding RNA 683 [Gene - HGNC]
  • LINC00908:long intergenic non-protein coding RNA 908 [Gene - HGNC]
  • MBP:myelin basic protein [Gene - OMIM - HGNC]
  • PTGR3:prostaglandin reductase 3 [Gene - HGNC]
  • SMIM21:small integral membrane protein 21 [Gene - HGNC]
  • SALL3:spalt like transcription factor 3 [Gene - OMIM - HGNC]
  • TSHZ1:teashirt zinc finger homeobox 1 [Gene - OMIM - HGNC]
  • LOC339298:uncharacterized LOC339298 [Gene]
  • ZNF236:zinc finger protein 236 [Gene - OMIM - HGNC]
  • ZNF407:zinc finger protein 407 [Gene - OMIM - HGNC]
  • ZNF516:zinc finger protein 516 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18q22.3-23
Genomic location:
Preferred name:
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1
HGVS:
  • NC_000018.10:g.(?_74207209)_(79351148_?)del
  • NC_000018.8:g.(?_70025424)_(75212136_?)del
  • NC_000018.9:g.(?_71874444)_(77111148_?)del
Links:
dbVar: nssv577661; dbVar: nsv532573
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
SCV000081269GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000081269.4

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

Last Updated: Oct 14, 2023