U.S. flag

An official website of the United States government

GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 18, 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:
RCV000142336.5

Allele description [Variation Report for GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3]

GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3

Genes:
  • LOC130068388:ATAC-STARR-seq lymphoblastoid active region 29722 [Gene]
  • LOC130068389:ATAC-STARR-seq lymphoblastoid active region 29723 [Gene]
  • LOC130068390:ATAC-STARR-seq lymphoblastoid active region 29724 [Gene]
  • LOC130068393:ATAC-STARR-seq lymphoblastoid active region 29727 [Gene]
  • LOC130068396:ATAC-STARR-seq lymphoblastoid active region 29728 [Gene]
  • LOC130068397:ATAC-STARR-seq lymphoblastoid active region 29729 [Gene]
  • LOC130068398:ATAC-STARR-seq lymphoblastoid active region 29730 [Gene]
  • LOC130068400:ATAC-STARR-seq lymphoblastoid active region 29731 [Gene]
  • LOC130068402:ATAC-STARR-seq lymphoblastoid active region 29732 [Gene]
  • LOC130068403:ATAC-STARR-seq lymphoblastoid active region 29733 [Gene]
  • LOC130068406:ATAC-STARR-seq lymphoblastoid active region 29734 [Gene]
  • LOC130068407:ATAC-STARR-seq lymphoblastoid active region 29735 [Gene]
  • LOC130068408:ATAC-STARR-seq lymphoblastoid active region 29736 [Gene]
  • LOC130068409:ATAC-STARR-seq lymphoblastoid active region 29738 [Gene]
  • LOC130068410:ATAC-STARR-seq lymphoblastoid active region 29739 [Gene]
  • LOC130068411:ATAC-STARR-seq lymphoblastoid active region 29740 [Gene]
  • LOC130068412:ATAC-STARR-seq lymphoblastoid active region 29741 [Gene]
  • LOC130068415:ATAC-STARR-seq lymphoblastoid active region 29742 [Gene]
  • LOC130068417:ATAC-STARR-seq lymphoblastoid active region 29743 [Gene]
  • LOC130068419:ATAC-STARR-seq lymphoblastoid active region 29745 [Gene]
  • LOC130068420:ATAC-STARR-seq lymphoblastoid active region 29746 [Gene]
  • LOC130068421:ATAC-STARR-seq lymphoblastoid active region 29747 [Gene]
  • LOC130068422:ATAC-STARR-seq lymphoblastoid active region 29748 [Gene]
  • LOC130068423:ATAC-STARR-seq lymphoblastoid active region 29749 [Gene]
  • LOC130068424:ATAC-STARR-seq lymphoblastoid active region 29750 [Gene]
  • LOC130068425:ATAC-STARR-seq lymphoblastoid active region 29751 [Gene]
  • LOC130068426:ATAC-STARR-seq lymphoblastoid active region 29752 [Gene]
  • LOC130068429:ATAC-STARR-seq lymphoblastoid active region 29753 [Gene]
  • LOC130068433:ATAC-STARR-seq lymphoblastoid active region 29754 [Gene]
  • LOC130068434:ATAC-STARR-seq lymphoblastoid active region 29755 [Gene]
  • LOC130068435:ATAC-STARR-seq lymphoblastoid active region 29756 [Gene]
  • LOC130068436:ATAC-STARR-seq lymphoblastoid active region 29757 [Gene]
  • LOC130068437:ATAC-STARR-seq lymphoblastoid active region 29758 [Gene]
  • LOC130068438:ATAC-STARR-seq lymphoblastoid active region 29761 [Gene]
  • LOC130068439:ATAC-STARR-seq lymphoblastoid active region 29762 [Gene]
  • LOC130068441:ATAC-STARR-seq lymphoblastoid active region 29763 [Gene]
  • LOC130068442:ATAC-STARR-seq lymphoblastoid active region 29765 [Gene]
  • LOC130068443:ATAC-STARR-seq lymphoblastoid active region 29766 [Gene]
  • LOC130068444:ATAC-STARR-seq lymphoblastoid active region 29767 [Gene]
  • LOC130068445:ATAC-STARR-seq lymphoblastoid active region 29768 [Gene]
  • LOC130068447:ATAC-STARR-seq lymphoblastoid active region 29769 [Gene]
  • LOC130068449:ATAC-STARR-seq lymphoblastoid active region 29770 [Gene]
  • LOC130068450:ATAC-STARR-seq lymphoblastoid active region 29771 [Gene]
  • LOC130068451:ATAC-STARR-seq lymphoblastoid active region 29772 [Gene]
  • LOC130068452:ATAC-STARR-seq lymphoblastoid active region 29773 [Gene]
  • LOC130068453:ATAC-STARR-seq lymphoblastoid active region 29774 [Gene]
  • LOC130068454:ATAC-STARR-seq lymphoblastoid active region 29776 [Gene]
  • LOC130068455:ATAC-STARR-seq lymphoblastoid active region 29777 [Gene]
  • LOC130068456:ATAC-STARR-seq lymphoblastoid active region 29778 [Gene]
  • LOC130068458:ATAC-STARR-seq lymphoblastoid active region 29779 [Gene]
  • LOC130068459:ATAC-STARR-seq lymphoblastoid active region 29780 [Gene]
  • LOC130068460:ATAC-STARR-seq lymphoblastoid active region 29781 [Gene]
  • LOC130068461:ATAC-STARR-seq lymphoblastoid active region 29782 [Gene]
  • LOC130068462:ATAC-STARR-seq lymphoblastoid active region 29783 [Gene]
  • LOC130068464:ATAC-STARR-seq lymphoblastoid active region 29784 [Gene]
  • LOC130068465:ATAC-STARR-seq lymphoblastoid active region 29785 [Gene]
  • LOC130068387:ATAC-STARR-seq lymphoblastoid silent region 20884 [Gene]
  • LOC130068391:ATAC-STARR-seq lymphoblastoid silent region 20885 [Gene]
  • LOC130068392:ATAC-STARR-seq lymphoblastoid silent region 20886 [Gene]
  • LOC130068394:ATAC-STARR-seq lymphoblastoid silent region 20887 [Gene]
  • LOC130068395:ATAC-STARR-seq lymphoblastoid silent region 20888 [Gene]
  • LOC130068399:ATAC-STARR-seq lymphoblastoid silent region 20889 [Gene]
  • LOC130068401:ATAC-STARR-seq lymphoblastoid silent region 20890 [Gene]
  • LOC130068404:ATAC-STARR-seq lymphoblastoid silent region 20891 [Gene]
  • LOC130068405:ATAC-STARR-seq lymphoblastoid silent region 20893 [Gene]
  • LOC130068413:ATAC-STARR-seq lymphoblastoid silent region 20895 [Gene]
  • LOC130068414:ATAC-STARR-seq lymphoblastoid silent region 20896 [Gene]
  • LOC130068416:ATAC-STARR-seq lymphoblastoid silent region 20897 [Gene]
  • LOC130068418:ATAC-STARR-seq lymphoblastoid silent region 20898 [Gene]
  • LOC130068427:ATAC-STARR-seq lymphoblastoid silent region 20899 [Gene]
  • LOC130068428:ATAC-STARR-seq lymphoblastoid silent region 20900 [Gene]
  • LOC130068430:ATAC-STARR-seq lymphoblastoid silent region 20901 [Gene]
  • LOC130068431:ATAC-STARR-seq lymphoblastoid silent region 20902 [Gene]
  • LOC130068432:ATAC-STARR-seq lymphoblastoid silent region 20903 [Gene]
  • LOC130068440:ATAC-STARR-seq lymphoblastoid silent region 20905 [Gene]
  • LOC130068446:ATAC-STARR-seq lymphoblastoid silent region 20906 [Gene]
  • LOC130068448:ATAC-STARR-seq lymphoblastoid silent region 20907 [Gene]
  • LOC130068457:ATAC-STARR-seq lymphoblastoid silent region 20908 [Gene]
  • LOC130068463:ATAC-STARR-seq lymphoblastoid silent region 20909 [Gene]
  • ABCB7:ATP binding cassette subfamily B member 7 [Gene - OMIM - HGNC]
  • ATP7A:ATPase copper transporting alpha [Gene - OMIM - HGNC]
  • ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
  • LOC126863275:BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 [Gene]
  • LOC126863276:BRD4-independent group 4 enhancer GRCh37_chrX:70523398-70524597 [Gene]
  • LOC126863281:BRD4-independent group 4 enhancer GRCh37_chrX:73915317-73916516 [Gene]
  • CXCR3:C-X-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • LOC126863269:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65855165-65856364 [Gene]
  • LOC126863273:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:69473037-69474236 [Gene]
  • LOC126863278:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:70888661-70889860 [Gene]
  • LOC126863280:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:72701495-72702694 [Gene]
  • LOC126863282:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:77413269-77414468 [Gene]
  • CITED1:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1 [Gene - OMIM - HGNC]
  • DLG3-AS1:DLG3 antisense RNA 1 [Gene - HGNC]
  • DMRTC1:DMRT like family C1 [Gene - OMIM - HGNC]
  • DMRTC1B:DMRT like family C1B [Gene - HGNC]
  • ERCC6L:ERCC excision repair 6 like, spindle assembly checkpoint helicase [Gene - OMIM - HGNC]
  • FTX:FTX transcript, XIST regulator [Gene - OMIM - HGNC]
  • JPX:JPX transcript, XIST activator [Gene - OMIM - HGNC]
  • MAGEE1:MAGE family member E1 [Gene - OMIM - HGNC]
  • MAGEE2:MAGE family member E2 [Gene - OMIM - HGNC]
  • LOC126863272:MED14-independent group 3 enhancer GRCh37_chrX:69330633-69331832 [Gene]
  • LOC126863274:MED14-independent group 3 enhancer GRCh37_chrX:70330888-70332087 [Gene]
  • LOC126863277:MED14-independent group 3 enhancer GRCh37_chrX:70752005-70753204 [Gene]
  • LOC126863279:MED14-independent group 3 enhancer GRCh37_chrX:71773892-71775091 [Gene]
  • MIR325HG:MIR325 host gene [Gene - HGNC]
  • LOC129391304:MPRA-validated peak7391 silencer [Gene]
  • NALF2:NALCN channel auxiliary factor 2 [Gene - HGNC]
  • NHSL2:NHS like 2 [Gene - OMIM - HGNC]
  • OGT:O-linked N-acetylglucosamine (GlcNAc) transferase [Gene - OMIM - HGNC]
  • OTUD6A:OTU deubiquitinase 6A [Gene - OMIM - HGNC]
  • LOC126863270:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65937581-65938780 [Gene]
  • LOC126863271:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:68369986-68371185 [Gene]
  • PABPC1L2B-AS1:PABPC1L2B antisense RNA 1 (head to head) [Gene - HGNC]
  • PDZD11:PDZ domain containing 11 [Gene - OMIM - HGNC]
  • PHKA1-AS1:PHKA1 antisense RNA 1 [Gene - HGNC]
  • RAB41:RAB41, member RAS oncogene family [Gene - HGNC]
  • LOC113875038:Sharpr-MPRA regulatory region 11812 [Gene]
  • LOC121853059:Sharpr-MPRA regulatory region 12156 [Gene]
  • LOC125467765:Sharpr-MPRA regulatory region 1365 [Gene]
  • LOC125467762:Sharpr-MPRA regulatory region 14051 [Gene]
  • LOC113875039:Sharpr-MPRA regulatory region 14264 [Gene]
  • LOC113875036:Sharpr-MPRA regulatory region 14511 [Gene]
  • LOC114022708:Sharpr-MPRA regulatory region 1584 [Gene]
  • LOC125467764:Sharpr-MPRA regulatory region 2135 [Gene]
  • LOC125467763:Sharpr-MPRA regulatory region 2992 [Gene]
  • LOC121627975:Sharpr-MPRA regulatory region 4327 [Gene]
  • LOC121853060:Sharpr-MPRA regulatory region 5483 [Gene]
  • LOC125467761:Sharpr-MPRA regulatory region 7273 [Gene]
  • STARD8:StAR related lipid transfer domain containing 8 [Gene - OMIM - HGNC]
  • TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
  • TAF9B:TATA-box binding protein associated factor 9b [Gene - OMIM - HGNC]
  • FLJ44635:TPT1-like protein [Gene]
  • TSIX:TSIX transcript, XIST antisense RNA [Gene - OMIM - HGNC]
  • XIST:X inactive specific transcript [Gene - OMIM - HGNC]
  • YIPF6:Yip1 domain family member 6 [Gene - OMIM - HGNC]
  • AWAT1:acyl-CoA wax alcohol acyltransferase 1 [Gene - OMIM - HGNC]
  • AWAT2:acyl-CoA wax alcohol acyltransferase 2 [Gene - OMIM - HGNC]
  • LOC109504725:androgen receptor repeat instability region [Gene]
  • AR:androgen receptor [Gene - OMIM - HGNC]
  • ARR3:arrestin 3 [Gene - OMIM - HGNC]
  • CDX4:caudal type homeobox 4 [Gene - OMIM - HGNC]
  • LOC101059915:chromosome X open reading frame 49-like [Gene]
  • CXorf49:chromosome X open reading frame 49 [Gene - HGNC]
  • CXorf49B:chromosome X open reading frame 49B [Gene - HGNC]
  • CXorf65:chromosome X open reading frame 65 [Gene - HGNC]
  • CHIC1:cysteine rich hydrophobic domain 1 [Gene - OMIM - HGNC]
  • COX7B:cytochrome c oxidase subunit 7B [Gene - OMIM - HGNC]
  • DGAT2L6:diacylglycerol O-acyltransferase 2 like 6 [Gene - OMIM - HGNC]
  • DLG3:discs large MAGUK scaffold protein 3 [Gene - OMIM - HGNC]
  • EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
  • EDA:ectodysplasin A [Gene - OMIM - HGNC]
  • EFNB1:ephrin B1 [Gene - OMIM - HGNC]
  • FAM226A:family with sequence similarity 226 member A [Gene - HGNC]
  • FAM226B:family with sequence similarity 226 member B [Gene - HGNC]
  • FAM236A:family with sequence similarity 236 member A [Gene - HGNC]
  • FAM236B:family with sequence similarity 236 member B [Gene - HGNC]
  • FAM236C:family with sequence similarity 236 member C [Gene - HGNC]
  • FAM236D:family with sequence similarity 236 member D [Gene - HGNC]
  • FGF16:fibroblast growth factor 16 [Gene - OMIM - HGNC]
  • FOXO4:forkhead box O4 [Gene - OMIM - HGNC]
  • GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]
  • GCNA:germ cell nuclear acidic peptidase [Gene - OMIM - HGNC]
  • GDPD2:glycerophosphodiester phosphodiesterase domain containing 2 [Gene - OMIM - HGNC]
  • HDAC8:histone deacetylase 8 [Gene - OMIM - HGNC]
  • IGBP1:immunoglobulin binding protein 1 [Gene - OMIM - HGNC]
  • ITGB1BP2:integrin subunit beta 1 binding protein 2 [Gene - OMIM - HGNC]
  • IL2RG:interleukin 2 receptor subunit gamma [Gene - OMIM - HGNC]
  • KIF4A:kinesin family member 4A [Gene - OMIM - HGNC]
  • LINC00269:long intergenic non-protein coding RNA 269 [Gene - HGNC]
  • LINC00891:long intergenic non-protein coding RNA 891 [Gene - HGNC]
  • MAGT1:magnesium transporter 1 [Gene - OMIM - HGNC]
  • MED12:mediator complex subunit 12 [Gene - OMIM - HGNC]
  • MIR325:microRNA 325 [Gene - HGNC]
  • MIR374A:microRNA 374a [Gene - HGNC]
  • MIR374B:microRNA 374b [Gene - HGNC]
  • MIR374C:microRNA 374c [Gene - HGNC]
  • MIR384:microRNA 384 [Gene - HGNC]
  • MIR421:microRNA 421 [Gene - HGNC]
  • MIR545:microRNA 545 [Gene - HGNC]
  • MIR676:microRNA 676 [Gene - HGNC]
  • NEXMIF:neurite extension and migration factor [Gene - OMIM - HGNC]
  • NLGN3:neuroligin 3 [Gene - OMIM - HGNC]
  • NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
  • NAP1L2:nucleosome assembly protein 1 like 2 [Gene - OMIM - HGNC]
  • OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]
  • PIN4:peptidylprolyl cis/trans isomerase, NIMA-interacting 4 [Gene - OMIM - HGNC]
  • PGK1:phosphoglycerate kinase 1 [Gene - OMIM - HGNC]
  • PGAM4:phosphoglycerate mutase family member 4 [Gene - OMIM - HGNC]
  • PHKA1:phosphorylase kinase regulatory subunit alpha 1 [Gene - OMIM - HGNC]
  • PABPC1L2A:poly(A) binding protein cytoplasmic 1 like 2A [Gene - HGNC]
  • PABPC1L2B:poly(A) binding protein cytoplasmic 1 like 2B [Gene - HGNC]
  • PBDC1:polysaccharide biosynthesis domain containing 1 [Gene - HGNC]
  • PJA1:praja ring finger ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • P2RY4:pyrimidinergic receptor P2Y4 [Gene - OMIM - HGNC]
  • RTL5:retrotransposon Gag like 5 [Gene - HGNC]
  • RPS4X:ribosomal protein S4 X-linked [Gene - OMIM - HGNC]
  • RLIM:ring finger protein, LIM domain interacting [Gene - OMIM - HGNC]
  • SNORD3E:small nucleolar RNA, C/D box 3E [Gene - HGNC]
  • SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]
  • SLC7A3:solute carrier family 7 member 3 [Gene - OMIM - HGNC]
  • SNX12:sorting nexin 12 [Gene - OMIM - HGNC]
  • TEX11:testis expressed 11 [Gene - OMIM - HGNC]
  • LOC100132741:uncharacterized LOC100132741 [Gene]
  • LOC105373244:uncharacterized LOC105373244 [Gene]
  • UPRT:uracil phosphoribosyltransferase homolog [Gene - OMIM - HGNC]
  • ZCCHC13:zinc finger CCHC-type containing 13 [Gene - HGNC]
  • ZDHHC15:zinc finger DHHC-type palmitoyltransferase 15 [Gene - OMIM - HGNC]
  • ZMYM3:zinc finger MYM-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq12-21.1
Genomic location:
Preferred name:
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3
HGVS:
  • NC_000023.11:g.(?_66445907)_(78172208_?)dup
  • NC_000023.10:g.(?_65665749)_(77427705_?)dup
Links:
dbVar: nssv3395447; dbVar: nsv996244
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000183674ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 18, 2014) 		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, SCV000183674.4

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

Last Updated: Sep 1, 2024