GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 21, 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:: RCV000139100.7

Allele description [Variation Report for GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3]

GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3

Genes:

ARFGAP1:ADP ribosylation factor GTPase activating protein 1 [Gene - OMIM - HGNC]
ARFRP1:ADP ribosylation factor related protein 1 [Gene - OMIM - HGNC]
ADRM1:ADRM1 26S proteasome ubiquitin receptor [Gene - OMIM - HGNC]
LOC130066288:ATAC-STARR-seq lymphoblastoid active region 18195 [Gene]
LOC130066289:ATAC-STARR-seq lymphoblastoid active region 18196 [Gene]
LOC130066303:ATAC-STARR-seq lymphoblastoid active region 18197 [Gene]
LOC130066304:ATAC-STARR-seq lymphoblastoid active region 18198 [Gene]
LOC130066306:ATAC-STARR-seq lymphoblastoid active region 18199 [Gene]
LOC130066307:ATAC-STARR-seq lymphoblastoid active region 18200 [Gene]
LOC130066309:ATAC-STARR-seq lymphoblastoid active region 18201 [Gene]
LOC130066310:ATAC-STARR-seq lymphoblastoid active region 18202 [Gene]
LOC130066311:ATAC-STARR-seq lymphoblastoid active region 18203 [Gene]
LOC130066312:ATAC-STARR-seq lymphoblastoid active region 18204 [Gene]
LOC130066314:ATAC-STARR-seq lymphoblastoid active region 18205 [Gene]
LOC130066315:ATAC-STARR-seq lymphoblastoid active region 18206 [Gene]
LOC130066316:ATAC-STARR-seq lymphoblastoid active region 18207 [Gene]
LOC130066317:ATAC-STARR-seq lymphoblastoid active region 18208 [Gene]
LOC130066319:ATAC-STARR-seq lymphoblastoid active region 18209 [Gene]
LOC130066321:ATAC-STARR-seq lymphoblastoid active region 18210 [Gene]
LOC130066322:ATAC-STARR-seq lymphoblastoid active region 18211 [Gene]
LOC130066325:ATAC-STARR-seq lymphoblastoid active region 18212 [Gene]
LOC130066326:ATAC-STARR-seq lymphoblastoid active region 18213 [Gene]
LOC130066327:ATAC-STARR-seq lymphoblastoid active region 18214 [Gene]
LOC130066335:ATAC-STARR-seq lymphoblastoid active region 18219 [Gene]
LOC130066341:ATAC-STARR-seq lymphoblastoid active region 18220 [Gene]
LOC130066342:ATAC-STARR-seq lymphoblastoid active region 18221 [Gene]
LOC130066345:ATAC-STARR-seq lymphoblastoid active region 18222 [Gene]
LOC130066346:ATAC-STARR-seq lymphoblastoid active region 18223 [Gene]
LOC130066348:ATAC-STARR-seq lymphoblastoid active region 18224 [Gene]
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]
LOC130066290:ATAC-STARR-seq lymphoblastoid silent region 13094 [Gene]
LOC130066291:ATAC-STARR-seq lymphoblastoid silent region 13095 [Gene]
LOC130066292:ATAC-STARR-seq lymphoblastoid silent region 13098 [Gene]
LOC130066293:ATAC-STARR-seq lymphoblastoid silent region 13099 [Gene]
LOC130066294:ATAC-STARR-seq lymphoblastoid silent region 13100 [Gene]
LOC130066295:ATAC-STARR-seq lymphoblastoid silent region 13101 [Gene]
LOC130066296:ATAC-STARR-seq lymphoblastoid silent region 13102 [Gene]
LOC130066297:ATAC-STARR-seq lymphoblastoid silent region 13103 [Gene]
LOC130066298:ATAC-STARR-seq lymphoblastoid silent region 13104 [Gene]
LOC130066299:ATAC-STARR-seq lymphoblastoid silent region 13105 [Gene]
LOC130066300:ATAC-STARR-seq lymphoblastoid silent region 13106 [Gene]
LOC130066301:ATAC-STARR-seq lymphoblastoid silent region 13107 [Gene]
LOC130066302:ATAC-STARR-seq lymphoblastoid silent region 13108 [Gene]
LOC130066305:ATAC-STARR-seq lymphoblastoid silent region 13109 [Gene]
LOC130066308:ATAC-STARR-seq lymphoblastoid silent region 13112 [Gene]
LOC130066313:ATAC-STARR-seq lymphoblastoid silent region 13113 [Gene]
LOC130066318:ATAC-STARR-seq lymphoblastoid silent region 13115 [Gene]
LOC130066320:ATAC-STARR-seq lymphoblastoid silent region 13116 [Gene]
LOC130066323:ATAC-STARR-seq lymphoblastoid silent region 13117 [Gene]
LOC130066324:ATAC-STARR-seq lymphoblastoid silent region 13118 [Gene]
LOC130066328:ATAC-STARR-seq lymphoblastoid silent region 13119 [Gene]
LOC130066329:ATAC-STARR-seq lymphoblastoid silent region 13120 [Gene]
LOC130066330:ATAC-STARR-seq lymphoblastoid silent region 13124 [Gene]
LOC130066331:ATAC-STARR-seq lymphoblastoid silent region 13125 [Gene]
LOC130066332:ATAC-STARR-seq lymphoblastoid silent region 13126 [Gene]
LOC130066333:ATAC-STARR-seq lymphoblastoid silent region 13127 [Gene]
LOC130066334:ATAC-STARR-seq lymphoblastoid silent region 13130 [Gene]
LOC130066336:ATAC-STARR-seq lymphoblastoid silent region 13133 [Gene]
LOC130066337:ATAC-STARR-seq lymphoblastoid silent region 13134 [Gene]
LOC130066338:ATAC-STARR-seq lymphoblastoid silent region 13135 [Gene]
LOC130066339:ATAC-STARR-seq lymphoblastoid silent region 13140 [Gene]
LOC130066340:ATAC-STARR-seq lymphoblastoid silent region 13141 [Gene]
LOC130066343:ATAC-STARR-seq lymphoblastoid silent region 13142 [Gene]
LOC130066344:ATAC-STARR-seq lymphoblastoid silent region 13143 [Gene]
LOC130066347:ATAC-STARR-seq lymphoblastoid silent region 13144 [Gene]
LOC130066349:ATAC-STARR-seq lymphoblastoid silent region 13145 [Gene]
LOC130066350:ATAC-STARR-seq lymphoblastoid silent region 13146 [Gene]
LOC130066351:ATAC-STARR-seq lymphoblastoid silent region 13147 [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]
LOC126863081:BRD4-independent group 4 enhancer GRCh37_chr20:60538354-60539553 [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]
LOC126863077:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:59964898-59966097 [Gene]
LOC126863079:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:60075832-60077031 [Gene]
LOC126863082:CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:60735092-60736291 [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]
CABLES2:Cdk5 and Abl enzyme substrate 2 [Gene - OMIM - HGNC]
DNAJC5:DnaJ heat shock protein family (Hsp40) member C5 [Gene - OMIM - HGNC]
GATA5:GATA binding protein 5 [Gene - OMIM - HGNC]
GID8:GID complex subunit 8 homolog [Gene - OMIM - HGNC]
KCNQ2-AS1:KCNQ2 antisense RNA 1 [Gene - HGNC]
LAMA5-AS1:LAMA5 antisense RNA 1 [Gene - HGNC]
LOC114803474:LIME1 eExon liver enhancer [Gene]
LKAAEAR1:LKAAEAR motif containing 1 [Gene - HGNC]
LSM14B:LSM family member 14B [Gene - OMIM - HGNC]
LIME1:Lck interacting transmembrane adaptor 1 [Gene - OMIM - HGNC]
LOC126863078:MED14-independent group 3 enhancer GRCh37_chr20:60011920-60013119 [Gene]
LOC126863084:MED14-independent group 3 enhancer GRCh37_chr20:61467141-61468340 [Gene]
MIR1-1HG:MIR1-1 host gene [Gene - HGNC]
LOC129391206:MPRA-validated peak4296 silencer [Gene]
LOC129391207:MPRA-validated peak4298 silencer [Gene]
LOC129391208:MPRA-validated peak4302 silencer [Gene]
LOC129391209:MPRA-validated peak4307 silencer [Gene]
LOC129391210:MPRA-validated peak4310 silencer [Gene]
LOC129391211:MPRA-validated peak4316 silencer [Gene]
LOC129391212:MPRA-validated peak4318 silencer [Gene]
LOC129391213:MPRA-validated peak4324 silencer [Gene]
MRGBP:MRG domain binding protein [Gene - OMIM - HGNC]
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]
OGFR-AS1:OGFR antisense RNA 1 [Gene - HGNC]
LOC126863080:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:60501357-60502556 [Gene]
LOC126863083:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61371112-61372311 [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]
RBBP8NL:RBBP8 N-terminal like [Gene - HGNC]
RPS21-DT:RPS21 divergent transcript [Gene - HGNC]
RTEL1-TNFRSF6B:RTEL1-TNFRSF6B readthrough (NMD candidate) [Gene - HGNC]
SLC2A4RG:SLC2A4 regulator [Gene - OMIM - HGNC]
SLCO4A1-AS1:SLCO4A1 antisense RNA 1 [Gene - HGNC]
SLCO4A1-AS2:SLCO4A1 antisense RNA 2 [Gene - HGNC]
LOC108281116:SOX18 promoter region [Gene]
SOX18:SRY-box transcription factor 18 [Gene - OMIM - HGNC]
SS18L1:SS18L1 subunit of BAF chromatin remodeling complex [Gene - OMIM - HGNC]
LOC112694725:Sharpr-MPRA regulatory region 10002 [Gene]
LOC121627915:Sharpr-MPRA regulatory region 10064 [Gene]
LOC112694726:Sharpr-MPRA regulatory region 11098 [Gene]
LOC125387317:Sharpr-MPRA regulatory region 11652 [Gene]
LOC121853020:Sharpr-MPRA regulatory region 12386 [Gene]
LOC114004357:Sharpr-MPRA regulatory region 12780 [Gene]
LOC121853019:Sharpr-MPRA regulatory region 13411 [Gene]
LOC112694727:Sharpr-MPRA regulatory region 13995 [Gene]
LOC121853018:Sharpr-MPRA regulatory region 1753 [Gene]
LOC125387313:Sharpr-MPRA regulatory region 1887 [Gene]
LOC112694728:Sharpr-MPRA regulatory region 2003 [Gene]
LOC125387319:Sharpr-MPRA regulatory region 327 [Gene]
LOC125387316:Sharpr-MPRA regulatory region 3586 [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]
LOC121853017:Sharpr-MPRA regulatory region 9437 [Gene]
TAF4:TATA-box binding protein associated factor 4 [Gene - OMIM - HGNC]
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]
BHLHE23:basic helix-loop-helix family member e23 [Gene - OMIM - HGNC]
CDH4:cadherin 4 [Gene - OMIM - HGNC]
CRMA:cardiomyocyte maturation associated lncRNA [Gene - 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]
COL9A3:collagen type IX alpha 3 chain [Gene - OMIM - HGNC]
COL20A1:collagen type XX alpha 1 chain [Gene - OMIM - HGNC]
DIDO1:death inducer-obliterator 1 [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]
HAR1A:highly accelerated region 1A [Gene - OMIM - HGNC]
HAR1B:highly accelerated region 1B [Gene - OMIM - HGNC]
HRH3:histamine receptor H3 [Gene - OMIM - HGNC]
LAMA5:laminin subunit alpha 5 [Gene - OMIM - HGNC]
LINC01056:long intergenic non-protein coding RNA 1056 [Gene - HGNC]
LINC01749:long intergenic non-protein coding RNA 1749 [Gene - HGNC]
LINC02970:long intergenic non-protein coding RNA 2970 [Gene - HGNC]
LINC00029:long intergenic non-protein coding RNA 29 [Gene - HGNC]
LINC00659:long intergenic non-protein coding RNA 659 [Gene - 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]
MIR1-1:microRNA 1-1 [Gene - OMIM - HGNC]
MIR124-3:microRNA 124-3 [Gene - HGNC]
MIR1257:microRNA 1257 [Gene - HGNC]
MIR133A2:microRNA 133a-2 [Gene - OMIM - HGNC]
MIR1914:microRNA 1914 [Gene - HGNC]
MIR3195:microRNA 3195 [Gene - HGNC]
MIR3196:microRNA 3196 [Gene - HGNC]
MIR4326:microRNA 4326 [Gene - HGNC]
MIR4758:microRNA 4758 [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]
MTG2:mitochondrial ribosome associated GTPase 2 [Gene - OMIM - HGNC]
MYT1:myelin transcription factor 1 [Gene - OMIM - HGNC]
NPBWR2:neuropeptides B and W receptor 2 [Gene - OMIM - HGNC]
NTSR1:neurotensin receptor 1 [Gene - OMIM - HGNC]
OGFR:opioid growth factor receptor [Gene - OMIM - HGNC]
OPRL1:opioid related nociceptin receptor 1 [Gene - OMIM - HGNC]
OSBPL2:oxysterol binding protein like 2 [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]
PSMA7:proteasome 20S subunit alpha 7 [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]
RPS21:ribosomal protein S21 [Gene - OMIM - HGNC]
SNORA117:small nucleolar RNA, H/ACA box 117 [Gene - HGNC]
NKAIN4:sodium/potassium transporting ATPase interacting 4 [Gene - OMIM - HGNC]
SLC17A9:solute carrier family 17 member 9 [Gene - OMIM - HGNC]
SLCO4A1:solute carrier organic anion transporter family member 4A1 [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]
TCFL5:transcription factor like 5 [Gene - OMIM - HGNC]
LOC100128310:uncharacterized LOC100128310 [Gene]
LOC100130587:uncharacterized LOC100130587 [Gene]
FLJ16779:uncharacterized LOC100192386 [Gene]
LOC105369209:uncharacterized LOC105369209 [Gene]
LOC105372703:uncharacterized LOC105372703 [Gene]
LOC105372710:uncharacterized LOC105372710 [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(chr20:61326549-64277326)x3

HGVS:

NC_000020.11:g.(?_61326549)_(64277326_?)dup
NC_000020.10:g.(?_59901605)_(62908679_?)dup
NC_000020.9:g.(?_59335000)_(62379123_?)dup

Links:

dbVar: nssv1602763; dbVar: nsv916464

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

PREDICTED: Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript var...
PREDICTED: Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant X5, mRNA
gi|2217370679|ref|XM_017013010.2|

Nucleotide
alpha/beta fold hydrolase [Priestia endophytica]
alpha/beta fold hydrolase [Priestia endophytica]
gi|1761960941|ref|WP_151588303.1|

Protein
GNAT family N-acetyltransferase [Priestia endophytica]
GNAT family N-acetyltransferase [Priestia endophytica]
gi|1761960955|ref|WP_151588310.1|

Protein
UNVERIFIED: Homo sapiens isolate ADH4_DGU259_22042591_22042591 sequence
UNVERIFIED: Homo sapiens isolate ADH4_DGU259_22042591_22042591 sequence
gi|2741372651|gb|PP893722.1|

Nucleotide
Mastomys natalensis complex sp. natBVI isolate VM276 cytochrome b (cytb) gene, p...
Mastomys natalensis complex sp. natBVI isolate VM276 cytochrome b (cytb) gene, partial cds; mitochondrial
gi|2184288460|gb|OK647225.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000179588	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Sep 21, 2012)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000179588

ISCA site 4

See additional submitters

no assertion criteria provided

Pathogenic
(Sep 21, 2012)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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 4, SCV000179588.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

ClinVar

Relating variation to medicine