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GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3 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:
RCV000051131.6

Allele description [Variation Report for GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3]

GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3

Genes:
  • ARFGAP1:ADP ribosylation factor GTPase activating protein 1 [Gene - OMIM - HGNC]
  • ARFRP1:ADP ribosylation factor related protein 1 [Gene - OMIM - HGNC]
  • LOC130066354:ATAC-STARR-seq lymphoblastoid active region 18225 [Gene]
  • LOC130066358:ATAC-STARR-seq lymphoblastoid active region 18226 [Gene]
  • LOC130066362:ATAC-STARR-seq lymphoblastoid active region 18227 [Gene]
  • LOC130066363:ATAC-STARR-seq lymphoblastoid active region 18228 [Gene]
  • LOC130066365:ATAC-STARR-seq lymphoblastoid active region 18229 [Gene]
  • LOC130066366:ATAC-STARR-seq lymphoblastoid active region 18230 [Gene]
  • LOC130066367:ATAC-STARR-seq lymphoblastoid active region 18231 [Gene]
  • LOC130066368:ATAC-STARR-seq lymphoblastoid active region 18232 [Gene]
  • LOC130066369:ATAC-STARR-seq lymphoblastoid active region 18233 [Gene]
  • LOC130066371:ATAC-STARR-seq lymphoblastoid active region 18234 [Gene]
  • LOC130066372:ATAC-STARR-seq lymphoblastoid active region 18235 [Gene]
  • LOC130066376:ATAC-STARR-seq lymphoblastoid active region 18236 [Gene]
  • LOC130066381:ATAC-STARR-seq lymphoblastoid active region 18237 [Gene]
  • LOC130066382:ATAC-STARR-seq lymphoblastoid active region 18238 [Gene]
  • LOC130066383:ATAC-STARR-seq lymphoblastoid active region 18239 [Gene]
  • LOC130066384:ATAC-STARR-seq lymphoblastoid active region 18240 [Gene]
  • LOC130066385:ATAC-STARR-seq lymphoblastoid active region 18241 [Gene]
  • LOC130066386:ATAC-STARR-seq lymphoblastoid active region 18242 [Gene]
  • LOC130066387:ATAC-STARR-seq lymphoblastoid active region 18243 [Gene]
  • LOC130066388:ATAC-STARR-seq lymphoblastoid active region 18244 [Gene]
  • LOC130066389:ATAC-STARR-seq lymphoblastoid active region 18245 [Gene]
  • LOC130066390:ATAC-STARR-seq lymphoblastoid active region 18246 [Gene]
  • LOC130066391:ATAC-STARR-seq lymphoblastoid active region 18248 [Gene]
  • LOC130066394:ATAC-STARR-seq lymphoblastoid active region 18250 [Gene]
  • LOC130066398:ATAC-STARR-seq lymphoblastoid active region 18251 [Gene]
  • LOC130066400:ATAC-STARR-seq lymphoblastoid active region 18252 [Gene]
  • LOC130066401:ATAC-STARR-seq lymphoblastoid active region 18253 [Gene]
  • LOC130066404:ATAC-STARR-seq lymphoblastoid active region 18254 [Gene]
  • LOC130066406:ATAC-STARR-seq lymphoblastoid active region 18255 [Gene]
  • LOC130066410:ATAC-STARR-seq lymphoblastoid active region 18258 [Gene]
  • LOC130066412:ATAC-STARR-seq lymphoblastoid active region 18259 [Gene]
  • LOC130066414:ATAC-STARR-seq lymphoblastoid active region 18260 [Gene]
  • LOC130066421:ATAC-STARR-seq lymphoblastoid active region 18262 [Gene]
  • LOC130066422:ATAC-STARR-seq lymphoblastoid active region 18263 [Gene]
  • LOC130066424:ATAC-STARR-seq lymphoblastoid active region 18264 [Gene]
  • LOC130066352:ATAC-STARR-seq lymphoblastoid silent region 13148 [Gene]
  • LOC130066353:ATAC-STARR-seq lymphoblastoid silent region 13149 [Gene]
  • LOC130066355:ATAC-STARR-seq lymphoblastoid silent region 13150 [Gene]
  • LOC130066356:ATAC-STARR-seq lymphoblastoid silent region 13151 [Gene]
  • LOC130066357:ATAC-STARR-seq lymphoblastoid silent region 13157 [Gene]
  • LOC130066359:ATAC-STARR-seq lymphoblastoid silent region 13158 [Gene]
  • LOC130066360:ATAC-STARR-seq lymphoblastoid silent region 13159 [Gene]
  • LOC130066361:ATAC-STARR-seq lymphoblastoid silent region 13160 [Gene]
  • LOC130066364:ATAC-STARR-seq lymphoblastoid silent region 13164 [Gene]
  • LOC130066370:ATAC-STARR-seq lymphoblastoid silent region 13165 [Gene]
  • LOC130066373:ATAC-STARR-seq lymphoblastoid silent region 13167 [Gene]
  • LOC130066374:ATAC-STARR-seq lymphoblastoid silent region 13168 [Gene]
  • LOC130066375:ATAC-STARR-seq lymphoblastoid silent region 13169 [Gene]
  • LOC130066377:ATAC-STARR-seq lymphoblastoid silent region 13170 [Gene]
  • LOC130066378:ATAC-STARR-seq lymphoblastoid silent region 13172 [Gene]
  • LOC130066379:ATAC-STARR-seq lymphoblastoid silent region 13175 [Gene]
  • LOC130066380:ATAC-STARR-seq lymphoblastoid silent region 13176 [Gene]
  • LOC130066392:ATAC-STARR-seq lymphoblastoid silent region 13177 [Gene]
  • LOC130066393:ATAC-STARR-seq lymphoblastoid silent region 13178 [Gene]
  • LOC130066395:ATAC-STARR-seq lymphoblastoid silent region 13184 [Gene]
  • LOC130066396:ATAC-STARR-seq lymphoblastoid silent region 13185 [Gene]
  • LOC130066397:ATAC-STARR-seq lymphoblastoid silent region 13186 [Gene]
  • LOC130066399:ATAC-STARR-seq lymphoblastoid silent region 13187 [Gene]
  • LOC130066402:ATAC-STARR-seq lymphoblastoid silent region 13188 [Gene]
  • LOC130066403:ATAC-STARR-seq lymphoblastoid silent region 13189 [Gene]
  • LOC130066405:ATAC-STARR-seq lymphoblastoid silent region 13191 [Gene]
  • LOC130066407:ATAC-STARR-seq lymphoblastoid silent region 13192 [Gene]
  • LOC130066408:ATAC-STARR-seq lymphoblastoid silent region 13193 [Gene]
  • LOC130066409:ATAC-STARR-seq lymphoblastoid silent region 13194 [Gene]
  • LOC130066411:ATAC-STARR-seq lymphoblastoid silent region 13196 [Gene]
  • LOC130066413:ATAC-STARR-seq lymphoblastoid silent region 13198 [Gene]
  • LOC130066415:ATAC-STARR-seq lymphoblastoid silent region 13199 [Gene]
  • LOC130066416:ATAC-STARR-seq lymphoblastoid silent region 13200 [Gene]
  • LOC130066417:ATAC-STARR-seq lymphoblastoid silent region 13201 [Gene]
  • LOC130066418:ATAC-STARR-seq lymphoblastoid silent region 13202 [Gene]
  • LOC130066419:ATAC-STARR-seq lymphoblastoid silent region 13203 [Gene]
  • LOC130066420:ATAC-STARR-seq lymphoblastoid silent region 13204 [Gene]
  • LOC130066423:ATAC-STARR-seq lymphoblastoid silent region 13205 [Gene]
  • LOC130066425:ATAC-STARR-seq lymphoblastoid silent region 13206 [Gene]
  • LOC130066426:ATAC-STARR-seq lymphoblastoid silent region 13207 [Gene]
  • LOC130066427:ATAC-STARR-seq lymphoblastoid silent region 13208 [Gene]
  • LOC130066428:ATAC-STARR-seq lymphoblastoid silent region 13209 [Gene]
  • LOC110594337:B6.7 minisatellite repeat instability region [Gene]
  • LOC126863086:BRD4-independent group 4 enhancer GRCh37_chr20:61971654-61972853 [Gene]
  • LOC126863088:BRD4-independent group 4 enhancer GRCh37_chr20:62495674-62496873 [Gene]
  • LOC126863089:BRD4-independent group 4 enhancer GRCh37_chr20:62642795-62643994 [Gene]
  • LOC126863091:BRD4-independent group 4 enhancer GRCh37_chr20:62754467-62755666 [Gene]
  • LOC126863085:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:61863095-61864294 [Gene]
  • LOC126863092:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:62782949-62784148 [Gene]
  • DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
  • KCNQ2-AS1:KCNQ2 antisense RNA 1 [Gene - HGNC]
  • LOC114803474:LIME1 eExon liver enhancer [Gene]
  • LKAAEAR1:LKAAEAR motif containing 1 [Gene - HGNC]
  • LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • LOC129391211:MPRA-validated peak4316 silencer [Gene]
  • LOC129391212:MPRA-validated peak4318 silencer [Gene]
  • LOC129391213:MPRA-validated peak4324 silencer [Gene]
  • LOC132090594:Neanderthal introgressed variant-containing enhancer experimental_60863 [Gene]
  • LOC132090595:Neanderthal introgressed variant-containing enhancer experimental_60987 [Gene]
  • LOC132090596:Neanderthal introgressed variant-containing enhancer experimental_60996 [Gene]
  • LOC132090911:Neanderthal introgressed variant-containing enhancer experimental_61036 [Gene]
  • LOC132090597:Neanderthal introgressed variant-containing enhancer experimental_61120 [Gene]
  • LOC132090912:Neanderthal introgressed variant-containing enhancer experimental_61137 [Gene]
  • LOC132090598:Neanderthal introgressed variant-containing enhancer experimental_61148 [Gene]
  • LOC132090599:Neanderthal introgressed variant-containing enhancer experimental_61158 [Gene]
  • LOC132090600:Neanderthal introgressed variant-containing enhancer experimental_61169 [Gene]
  • LOC132090913:Neanderthal introgressed variant-containing enhancer experimental_61181 [Gene]
  • LOC132090601:Neanderthal introgressed variant-containing enhancer experimental_61184 [Gene]
  • LOC132090602:Neanderthal introgressed variant-containing enhancer experimental_61189 [Gene]
  • LOC132090603:Neanderthal introgressed variant-containing enhancer experimental_61197 [Gene]
  • LOC132090914:Neanderthal introgressed variant-containing enhancer experimental_61208 [Gene]
  • LOC132090915:Neanderthal introgressed variant-containing enhancer experimental_61211 [Gene]
  • LOC132090604:Neanderthal introgressed variant-containing enhancer experimental_61287 [Gene]
  • LOC132090605:Neanderthal introgressed variant-containing enhancer experimental_61295 [Gene]
  • LOC132090606:Neanderthal introgressed variant-containing enhancer experimental_61302 [Gene]
  • LOC126863087:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61986832-61988031 [Gene]
  • LOC126863090:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:62648052-62649251 [Gene]
  • RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
  • SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
  • LOC108281116:SOX18 promoter region [Gene]
  • SOX18:SRY-box transcription factor 18 [Gene - OMIM - HGNC]
  • LOC121627915:Sharpr-MPRA regulatory region 10064 [Gene]
  • LOC114004357:Sharpr-MPRA regulatory region 12780 [Gene]
  • LOC112694727:Sharpr-MPRA regulatory region 13995 [Gene]
  • LOC112694728:Sharpr-MPRA regulatory region 2003 [Gene]
  • LOC125387319:Sharpr-MPRA regulatory region 327 [Gene]
  • LOC125387320:Sharpr-MPRA regulatory region 4884 [Gene]
  • LOC121627916:Sharpr-MPRA regulatory region 6051 [Gene]
  • LOC125387318:Sharpr-MPRA regulatory region 785 [Gene]
  • LOC121627914:Sharpr-MPRA regulatory region 8221 [Gene]
  • TNFRSF6B:TNF receptor superfamily member 6b [Gene - OMIM - HGNC]
  • TPD52L2:TPD52 like 2 [Gene - OMIM - HGNC]
  • UCKL1-AS1:UCKL1 antisense RNA 1 [Gene - HGNC]
  • LOC120285836:VISTA enhancer hs2609 [Gene]
  • YTHDF1:YTH N6-methyladenosine RNA binding protein F1 [Gene - OMIM - HGNC]
  • ZBTB46-AS1:ZBTB46 antisense RNA 1 [Gene - HGNC]
  • ZBTB46-AS2:ZBTB46 antisense RNA 2 [Gene - HGNC]
  • ABHD16B:abhydrolase domain containing 16B [Gene - OMIM - HGNC]
  • BIRC7:baculoviral IAP repeat containing 7 [Gene - OMIM - HGNC]
  • CHRNA4:cholinergic receptor nicotinic alpha 4 subunit [Gene - OMIM - HGNC]
  • C20orf204:chromosome 20 open reading frame 204 [Gene - HGNC]
  • C20orf181:chromosome 20 putative open reading frame 181 [Gene - HGNC]
  • COL20A1:collagen type XX alpha 1 chain [Gene - OMIM - HGNC]
  • EEF1A2:eukaryotic translation elongation factor 1 alpha 2 [Gene - OMIM - HGNC]
  • FNDC11:fibronectin type III domain containing 11 [Gene - HGNC]
  • GMEB2:glucocorticoid modulatory element binding protein 2 [Gene - OMIM - HGNC]
  • HELZ2:helicase with zinc finger 2 [Gene - OMIM - HGNC]
  • MHENCR:melanoma highly expressed competing endogenous lncRNA for miR-425 and miR-489 [Gene - HGNC]
  • LOC128772425:melanoma risk locus-associated MPRA allelic enhancer 20:62307938 [Gene]
  • LOC128772426:melanoma risk locus-associated MPRA allelic enhancer 20:62320674 [Gene]
  • MIR1914:microRNA 1914 [Gene - HGNC]
  • MIR3196:microRNA 3196 [Gene - HGNC]
  • MIR4326:microRNA 4326 [Gene - HGNC]
  • MIR647:microRNA 647 [Gene - HGNC]
  • MIR6813:microRNA 6813 [Gene - HGNC]
  • MIR941-1:microRNA 941-1 [Gene - HGNC]
  • MIR941-2:microRNA 941-2 [Gene - HGNC]
  • MIR941-3:microRNA 941-3 [Gene - HGNC]
  • MIR941-4:microRNA 941-4 [Gene - HGNC]
  • MIR941-5:microRNA 941-5 [Gene - HGNC]
  • MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
  • NPBWR2:neuropeptides B and W receptor 2 [Gene - OMIM - HGNC]
  • OPRL1:opioid related nociceptin receptor 1 [Gene - OMIM - HGNC]
  • PPDPF:pancreatic progenitor cell differentiation and proliferation factor [Gene - HGNC]
  • KCNQ2:potassium voltage-gated channel subfamily Q member 2 [Gene - OMIM - HGNC]
  • PRPF6:pre-mRNA processing factor 6 [Gene - OMIM - HGNC]
  • PTK6:protein tyrosine kinase 6 [Gene - OMIM - HGNC]
  • PCMTD2:protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 [Gene - OMIM - HGNC]
  • RGS19:regulator of G protein signaling 19 [Gene - OMIM - HGNC]
  • RTEL1:regulator of telomere elongation helicase 1 [Gene - OMIM - HGNC]
  • NKAIN4:sodium/potassium transporting ATPase interacting 4 [Gene - OMIM - HGNC]
  • SRMS:src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites [Gene - OMIM - HGNC]
  • STMN3:stathmin 3 [Gene - OMIM - HGNC]
  • SAMD10:sterile alpha motif domain containing 10 [Gene - HGNC]
  • TCEA2:transcription elongation factor A2 [Gene - OMIM - HGNC]
  • LOC100130587:uncharacterized LOC100130587 [Gene]
  • FLJ16779:uncharacterized LOC100192386 [Gene]
  • LOC112268269:uncharacterized LOC112268269 [Gene]
  • UCKL1:uridine-cytidine kinase 1 like 1 [Gene - OMIM - HGNC]
  • ZGPAT:zinc finger CCCH-type and G-patch domain containing [Gene - OMIM - HGNC]
  • ZBTB46:zinc finger and BTB domain containing 46 [Gene - OMIM - HGNC]
  • ZNF512B:zinc finger protein 512B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20q13.33
Genomic location:
Preferred name:
GRCh38/hg38 20q13.33(chr20:63199020-64277321)x3
HGVS:
  • NC_000020.11:g.(?_63199020)_(64277321_?)dup
  • NC_000020.10:g.(?_61830372)_(62908674_?)dup
  • NC_000020.9:g.(?_61300817)_(62379118_?)dup
Links:
dbVar: nssv578870; dbVar: nsv1067637
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
SCV000078473ISCA site 4

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 4, SCV000078473.5

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

Last Updated: May 7, 2024