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GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)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:
RCV000052799.8

Allele description [Variation Report for GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1]

GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1

Genes:
  • ADAMTS1:ADAM metallopeptidase with thrombospondin type 1 motif 1 [Gene - OMIM - HGNC]
  • ADAMTS5:ADAM metallopeptidase with thrombospondin type 1 motif 5 [Gene - OMIM - HGNC]
  • APP-DT:APP divergent transcript [Gene - HGNC]
  • LOC130066429:ATAC-STARR-seq lymphoblastoid active region 18266 [Gene]
  • LOC130066430:ATAC-STARR-seq lymphoblastoid active region 18268 [Gene]
  • LOC130066431:ATAC-STARR-seq lymphoblastoid active region 18269 [Gene]
  • LOC130066433:ATAC-STARR-seq lymphoblastoid active region 18270 [Gene]
  • LOC130066434:ATAC-STARR-seq lymphoblastoid active region 18271 [Gene]
  • LOC130066435:ATAC-STARR-seq lymphoblastoid active region 18272 [Gene]
  • LOC130066436:ATAC-STARR-seq lymphoblastoid active region 18274 [Gene]
  • LOC130066437:ATAC-STARR-seq lymphoblastoid active region 18275 [Gene]
  • LOC130066439:ATAC-STARR-seq lymphoblastoid active region 18276 [Gene]
  • LOC130066441:ATAC-STARR-seq lymphoblastoid active region 18277 [Gene]
  • LOC130066442:ATAC-STARR-seq lymphoblastoid active region 18278 [Gene]
  • LOC130066443:ATAC-STARR-seq lymphoblastoid active region 18279 [Gene]
  • LOC130066444:ATAC-STARR-seq lymphoblastoid active region 18280 [Gene]
  • LOC130066445:ATAC-STARR-seq lymphoblastoid active region 18281 [Gene]
  • LOC130066446:ATAC-STARR-seq lymphoblastoid active region 18282 [Gene]
  • LOC130066447:ATAC-STARR-seq lymphoblastoid active region 18283 [Gene]
  • LOC130066448:ATAC-STARR-seq lymphoblastoid active region 18284 [Gene]
  • LOC130066449:ATAC-STARR-seq lymphoblastoid active region 18285 [Gene]
  • LOC130066450:ATAC-STARR-seq lymphoblastoid active region 18286 [Gene]
  • LOC130066451:ATAC-STARR-seq lymphoblastoid active region 18287 [Gene]
  • LOC130066452:ATAC-STARR-seq lymphoblastoid active region 18288 [Gene]
  • LOC130066453:ATAC-STARR-seq lymphoblastoid active region 18289 [Gene]
  • LOC130066454:ATAC-STARR-seq lymphoblastoid active region 18290 [Gene]
  • LOC130066455:ATAC-STARR-seq lymphoblastoid active region 18291 [Gene]
  • LOC130066458:ATAC-STARR-seq lymphoblastoid active region 18292 [Gene]
  • LOC130066461:ATAC-STARR-seq lymphoblastoid active region 18293 [Gene]
  • LOC130066465:ATAC-STARR-seq lymphoblastoid active region 18294 [Gene]
  • LOC130066466:ATAC-STARR-seq lymphoblastoid active region 18295 [Gene]
  • LOC130066467:ATAC-STARR-seq lymphoblastoid active region 18296 [Gene]
  • LOC130066468:ATAC-STARR-seq lymphoblastoid active region 18297 [Gene]
  • LOC130066469:ATAC-STARR-seq lymphoblastoid active region 18298 [Gene]
  • LOC130066470:ATAC-STARR-seq lymphoblastoid active region 18299 [Gene]
  • LOC130066471:ATAC-STARR-seq lymphoblastoid active region 18300 [Gene]
  • LOC130066473:ATAC-STARR-seq lymphoblastoid active region 18301 [Gene]
  • LOC130066474:ATAC-STARR-seq lymphoblastoid active region 18302 [Gene]
  • LOC130066475:ATAC-STARR-seq lymphoblastoid active region 18303 [Gene]
  • LOC130066476:ATAC-STARR-seq lymphoblastoid active region 18304 [Gene]
  • LOC130066478:ATAC-STARR-seq lymphoblastoid active region 18306 [Gene]
  • LOC130066479:ATAC-STARR-seq lymphoblastoid active region 18307 [Gene]
  • LOC130066480:ATAC-STARR-seq lymphoblastoid active region 18308 [Gene]
  • LOC130066483:ATAC-STARR-seq lymphoblastoid active region 18309 [Gene]
  • LOC130066487:ATAC-STARR-seq lymphoblastoid active region 18310 [Gene]
  • LOC130066488:ATAC-STARR-seq lymphoblastoid active region 18311 [Gene]
  • LOC130066489:ATAC-STARR-seq lymphoblastoid active region 18312 [Gene]
  • LOC130066490:ATAC-STARR-seq lymphoblastoid active region 18313 [Gene]
  • LOC130066491:ATAC-STARR-seq lymphoblastoid active region 18314 [Gene]
  • LOC130066493:ATAC-STARR-seq lymphoblastoid active region 18315 [Gene]
  • LOC130066495:ATAC-STARR-seq lymphoblastoid active region 18317 [Gene]
  • LOC130066499:ATAC-STARR-seq lymphoblastoid active region 18320 [Gene]
  • LOC130066500:ATAC-STARR-seq lymphoblastoid active region 18321 [Gene]
  • LOC130066502:ATAC-STARR-seq lymphoblastoid active region 18322 [Gene]
  • LOC130066503:ATAC-STARR-seq lymphoblastoid active region 18324 [Gene]
  • LOC130066504:ATAC-STARR-seq lymphoblastoid active region 18325 [Gene]
  • LOC130066505:ATAC-STARR-seq lymphoblastoid active region 18326 [Gene]
  • LOC130066506:ATAC-STARR-seq lymphoblastoid active region 18327 [Gene]
  • LOC130066507:ATAC-STARR-seq lymphoblastoid active region 18328 [Gene]
  • LOC130066508:ATAC-STARR-seq lymphoblastoid active region 18329 [Gene]
  • LOC130066509:ATAC-STARR-seq lymphoblastoid active region 18330 [Gene]
  • LOC130066510:ATAC-STARR-seq lymphoblastoid active region 18333 [Gene]
  • LOC130066511:ATAC-STARR-seq lymphoblastoid active region 18335 [Gene]
  • LOC130066512:ATAC-STARR-seq lymphoblastoid active region 18336 [Gene]
  • LOC130066513:ATAC-STARR-seq lymphoblastoid active region 18337 [Gene]
  • LOC130066514:ATAC-STARR-seq lymphoblastoid active region 18338 [Gene]
  • LOC130066515:ATAC-STARR-seq lymphoblastoid active region 18339 [Gene]
  • LOC130066517:ATAC-STARR-seq lymphoblastoid active region 18340 [Gene]
  • LOC130066518:ATAC-STARR-seq lymphoblastoid active region 18341 [Gene]
  • LOC130066519:ATAC-STARR-seq lymphoblastoid active region 18343 [Gene]
  • LOC130066520:ATAC-STARR-seq lymphoblastoid active region 18344 [Gene]
  • LOC130066521:ATAC-STARR-seq lymphoblastoid active region 18345 [Gene]
  • LOC130066522:ATAC-STARR-seq lymphoblastoid active region 18346 [Gene]
  • LOC130066523:ATAC-STARR-seq lymphoblastoid active region 18347 [Gene]
  • LOC130066525:ATAC-STARR-seq lymphoblastoid active region 18348 [Gene]
  • LOC130066526:ATAC-STARR-seq lymphoblastoid active region 18349 [Gene]
  • LOC130066527:ATAC-STARR-seq lymphoblastoid active region 18350 [Gene]
  • LOC130066432:ATAC-STARR-seq lymphoblastoid silent region 13213 [Gene]
  • LOC130066438:ATAC-STARR-seq lymphoblastoid silent region 13214 [Gene]
  • LOC130066440:ATAC-STARR-seq lymphoblastoid silent region 13215 [Gene]
  • LOC130066456:ATAC-STARR-seq lymphoblastoid silent region 13216 [Gene]
  • LOC130066457:ATAC-STARR-seq lymphoblastoid silent region 13217 [Gene]
  • LOC130066459:ATAC-STARR-seq lymphoblastoid silent region 13218 [Gene]
  • LOC130066460:ATAC-STARR-seq lymphoblastoid silent region 13219 [Gene]
  • LOC130066462:ATAC-STARR-seq lymphoblastoid silent region 13220 [Gene]
  • LOC130066463:ATAC-STARR-seq lymphoblastoid silent region 13221 [Gene]
  • LOC130066464:ATAC-STARR-seq lymphoblastoid silent region 13222 [Gene]
  • LOC130066472:ATAC-STARR-seq lymphoblastoid silent region 13223 [Gene]
  • LOC130066477:ATAC-STARR-seq lymphoblastoid silent region 13224 [Gene]
  • LOC130066481:ATAC-STARR-seq lymphoblastoid silent region 13225 [Gene]
  • LOC130066482:ATAC-STARR-seq lymphoblastoid silent region 13226 [Gene]
  • LOC130066484:ATAC-STARR-seq lymphoblastoid silent region 13227 [Gene]
  • LOC130066485:ATAC-STARR-seq lymphoblastoid silent region 13228 [Gene]
  • LOC130066486:ATAC-STARR-seq lymphoblastoid silent region 13229 [Gene]
  • LOC130066492:ATAC-STARR-seq lymphoblastoid silent region 13230 [Gene]
  • LOC130066494:ATAC-STARR-seq lymphoblastoid silent region 13231 [Gene]
  • LOC130066496:ATAC-STARR-seq lymphoblastoid silent region 13232 [Gene]
  • LOC130066497:ATAC-STARR-seq lymphoblastoid silent region 13233 [Gene]
  • LOC130066498:ATAC-STARR-seq lymphoblastoid silent region 13234 [Gene]
  • LOC130066501:ATAC-STARR-seq lymphoblastoid silent region 13235 [Gene]
  • LOC130066516:ATAC-STARR-seq lymphoblastoid silent region 13237 [Gene]
  • LOC130066524:ATAC-STARR-seq lymphoblastoid silent region 13238 [Gene]
  • ATP5PF:ATP synthase peripheral stalk subunit F6 [Gene - OMIM - HGNC]
  • BACH1-IT2:BACH1 intronic transcript 2 [Gene - HGNC]
  • BACH1-IT3:BACH1 intronic transcript 3 [Gene - HGNC]
  • LOC126653314:BRD4-independent group 4 enhancer GRCh37_chr21:16403577-16404776 [Gene]
  • LOC126653325:BRD4-independent group 4 enhancer GRCh37_chr21:25184373-25185572 [Gene]
  • LOC126653331:BRD4-independent group 4 enhancer GRCh37_chr21:27511930-27513129 [Gene]
  • LOC126653339:BRD4-independent group 4 enhancer GRCh37_chr21:31022541-31023740 [Gene]
  • BACH1:BTB domain and CNC homolog 1 [Gene - OMIM - HGNC]
  • BTG3:BTG anti-proliferation factor 3 [Gene - OMIM - HGNC]
  • BTG3-AS1:BTG3 antisense RNA 1 [Gene - HGNC]
  • C21orf91-OT1:C21orf91 overlapping transcript 1 [Gene - HGNC]
  • LOC126653313:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:16267450-16268649 [Gene]
  • LOC126653316:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:17364583-17365782 [Gene]
  • LOC126653323:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:22061254-22062453 [Gene]
  • LOC126653326:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:26452976-26454175 [Gene]
  • LOC126653330:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:27326978-27328177 [Gene]
  • LOC126653336:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30447741-30448940 [Gene]
  • LOC126653338:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:30714441-30715640 [Gene]
  • CHODL-AS1:CHODL antisense RNA 1 [Gene - HGNC]
  • LOC116309120:CRISPRi-validated cis-regulatory element chr21.63 [Gene]
  • LOC116309121:CRISPRi-validated cis-regulatory element chr21.64 [Gene]
  • LOC116309122:CRISPRi-validated cis-regulatory element chr21.70 [Gene]
  • LOC116309123:CRISPRi-validated cis-regulatory element chr21.79 [Gene]
  • CXADR:CXADR Ig-like cell adhesion molecule [Gene - OMIM - HGNC]
  • CYYR1-AS1:CYYR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • D21S2088E:D21S2088E [Gene]
  • GABPA:GA binding protein transcription factor subunit alpha [Gene - OMIM - HGNC]
  • GRIK1-AS1:GRIK1 antisense RNA 1 [Gene - HGNC]
  • GRIK1-AS2:GRIK1 antisense RNA 2 [Gene - HGNC]
  • MAP3K7CL:MAP3K7 C-terminal like [Gene - OMIM - HGNC]
  • LOC126653320:MED14-independent group 3 enhancer GRCh37_chr21:19038958-19040157 [Gene]
  • LOC126653322:MED14-independent group 3 enhancer GRCh37_chr21:21964409-21965608 [Gene]
  • LOC126653324:MED14-independent group 3 enhancer GRCh37_chr21:23561834-23563033 [Gene]
  • LOC126653332:MED14-independent group 3 enhancer GRCh37_chr21:27761856-27763055 [Gene]
  • LOC126653333:MED14-independent group 3 enhancer GRCh37_chr21:27813209-27814408 [Gene]
  • LOC126653334:MED14-independent group 3 enhancer GRCh37_chr21:28214275-28215474 [Gene]
  • LOC126653335:MED14-independent group 3 enhancer GRCh37_chr21:30206496-30207695 [Gene]
  • LOC126653337:MED14-independent group 3 enhancer GRCh37_chr21:30568347-30569546 [Gene]
  • MIR155HG:MIR155 host gene [Gene - HGNC]
  • MIR548XHG:MIR548X host gene [Gene - HGNC]
  • LOC129391221:MPRA-validated peak4348 silencer [Gene]
  • LOC129391222:MPRA-validated peak4355 silencer [Gene]
  • LOC129391223:MPRA-validated peak4356 silencer [Gene]
  • LOC129391224:MPRA-validated peak4361 silencer [Gene]
  • LOC129391225:MPRA-validated peak4362 silencer [Gene]
  • LOC129391226:MPRA-validated peak4363 silencer [Gene]
  • LOC129391227:MPRA-validated peak4364 silencer [Gene]
  • LOC129391228:MPRA-validated peak4367 silencer [Gene]
  • LOC129391229:MPRA-validated peak4373 silencer [Gene]
  • LOC129391230:MPRA-validated peak4374 silencer [Gene]
  • LOC129391231:MPRA-validated peak4375 silencer [Gene]
  • LOC129391232:MPRA-validated peak4376 silencer [Gene]
  • LOC129391233:MPRA-validated peak4378 silencer [Gene]
  • LOC129391234:MPRA-validated peak4379 silencer [Gene]
  • LOC129391235:MPRA-validated peak4381 silencer [Gene]
  • LOC129391236:MPRA-validated peak4382 silencer [Gene]
  • LOC129391237:MPRA-validated peak4384 silencer [Gene]
  • LOC129391238:MPRA-validated peak4387 silencer [Gene]
  • LOC129391239:MPRA-validated peak4389 silencer [Gene]
  • LOC129388418:MPRA-validated peak4391 silencer [Gene]
  • LOC129391240:MPRA-validated peak4395 silencer [Gene]
  • LOC129391241:MPRA-validated peak4397 silencer [Gene]
  • LOC129391242:MPRA-validated peak4398 silencer [Gene]
  • N6AMT1:N-6 adenine-specific DNA methyltransferase 1 [Gene - OMIM - HGNC]
  • LOC132090607:Neanderthal introgressed variant-containing enhancer experimental_61617 [Gene]
  • LOC132090608:Neanderthal introgressed variant-containing enhancer experimental_61623 [Gene]
  • LOC132090609:Neanderthal introgressed variant-containing enhancer experimental_61697 [Gene]
  • LOC132090610:Neanderthal introgressed variant-containing enhancer experimental_61707 [Gene]
  • LOC132090611:Neanderthal introgressed variant-containing enhancer experimental_61740 [Gene]
  • LOC132090612:Neanderthal introgressed variant-containing enhancer experimental_61838 [Gene]
  • LOC132090613:Neanderthal introgressed variant-containing enhancer experimental_61844 [Gene]
  • LOC132090916:Neanderthal introgressed variant-containing enhancer experimental_61884 [Gene]
  • LOC132090917:Neanderthal introgressed variant-containing enhancer experimental_61891 [Gene]
  • LOC126653312:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:15905912-15907111 [Gene]
  • LOC126653315:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:16738058-16739257 [Gene]
  • LOC126653317:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:18166790-18167989 [Gene]
  • LOC126653318:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:18743116-18744315 [Gene]
  • LOC126653319:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:18790767-18791966 [Gene]
  • LOC126653321:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:21399322-21400521 [Gene]
  • LOC126653327:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:26479627-26480826 [Gene]
  • LOC126653328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:26701419-26702618 [Gene]
  • LOC126653329:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:26829184-26830383 [Gene]
  • RBM11:RNA binding motif protein 11 [Gene - OMIM - HGNC]
  • RWDD2B:RWD domain containing 2B [Gene - OMIM - HGNC]
  • SAMSN1:SAM domain, SH3 domain and nuclear localization signals 1 [Gene - OMIM - HGNC]
  • SAMSN1-AS1:SAMSN1 antisense RNA 1 [Gene - HGNC]
  • LOC121627918:Sharpr-MPRA regulatory region 10306 [Gene]
  • LOC125387326:Sharpr-MPRA regulatory region 10595 [Gene]
  • LOC125418057:Sharpr-MPRA regulatory region 12458 [Gene]
  • LOC125418049:Sharpr-MPRA regulatory region 14289 [Gene]
  • LOC121853022:Sharpr-MPRA regulatory region 1456 [Gene]
  • LOC125418056:Sharpr-MPRA regulatory region 14833 [Gene]
  • LOC125418048:Sharpr-MPRA regulatory region 15533 [Gene]
  • LOC112694732:Sharpr-MPRA regulatory region 2263 [Gene]
  • LOC112694734:Sharpr-MPRA regulatory region 2602 [Gene]
  • LOC112694735:Sharpr-MPRA regulatory region 4059 [Gene]
  • LOC125418050:Sharpr-MPRA regulatory region 4841 [Gene]
  • LOC125418051:Sharpr-MPRA regulatory region 4883 [Gene]
  • LOC121853023:Sharpr-MPRA regulatory region 5316 [Gene]
  • LOC121853024:Sharpr-MPRA regulatory region 6418 [Gene]
  • LOC125418053:Sharpr-MPRA regulatory region 6786 [Gene]
  • LOC125418054:Sharpr-MPRA regulatory region 7095 [Gene]
  • LOC125418055:Sharpr-MPRA regulatory region 7516 [Gene]
  • LOC125418058:Sharpr-MPRA regulatory region 8261 [Gene]
  • LOC121853025:Sharpr-MPRA regulatory region 8374 [Gene]
  • LOC112694733:Sharpr-MPRA regulatory region 8522 [Gene]
  • LOC125418052:Sharpr-MPRA regulatory region 9223 [Gene]
  • LOC110121341:VISTA enhancer hs1304 [Gene]
  • LOC110121368:VISTA enhancer hs1441 [Gene]
  • LOC110121429:VISTA enhancer hs1684 [Gene]
  • ASMER1:adipocyte associated metabolic related lncRNA 1 [Gene - HGNC]
  • APP:amyloid beta precursor protein [Gene - OMIM - HGNC]
  • CCT8:chaperonin containing TCP1 subunit 8 [Gene - OMIM - HGNC]
  • CHODL:chondrolectin [Gene - OMIM - HGNC]
  • C21orf91:chromosome 21 open reading frame 91 [Gene - HGNC]
  • CLDN17:claudin 17 [Gene - OMIM - HGNC]
  • CLDN8:claudin 8 [Gene - OMIM - HGNC]
  • CYYR1:cysteine and tyrosine rich 1 [Gene - OMIM - HGNC]
  • GRIK1:glutamate ionotropic receptor kainate type subunit 1 [Gene - OMIM - HGNC]
  • HSPA13:heat shock protein family A (Hsp70) member 13 [Gene - OMIM - HGNC]
  • JAM2:junctional adhesion molecule 2 [Gene - OMIM - HGNC]
  • KRTAP11-1:keratin associated protein 11-1 [Gene - OMIM - HGNC]
  • KRTAP13-1:keratin associated protein 13-1 [Gene - OMIM - HGNC]
  • KRTAP13-2:keratin associated protein 13-2 [Gene - HGNC]
  • KRTAP13-3:keratin associated protein 13-3 [Gene - HGNC]
  • KRTAP13-4:keratin associated protein 13-4 [Gene - HGNC]
  • KRTAP15-1:keratin associated protein 15-1 [Gene - HGNC]
  • KRTAP19-1:keratin associated protein 19-1 [Gene - HGNC]
  • KRTAP19-2:keratin associated protein 19-2 [Gene - HGNC]
  • KRTAP19-3:keratin associated protein 19-3 [Gene - HGNC]
  • KRTAP19-4:keratin associated protein 19-4 [Gene - HGNC]
  • KRTAP19-5:keratin associated protein 19-5 [Gene - HGNC]
  • KRTAP19-6:keratin associated protein 19-6 [Gene - HGNC]
  • KRTAP19-7:keratin associated protein 19-7 [Gene - HGNC]
  • KRTAP20-1:keratin associated protein 20-1 [Gene - HGNC]
  • KRTAP20-2:keratin associated protein 20-2 [Gene - HGNC]
  • KRTAP20-3:keratin associated protein 20-3 [Gene - HGNC]
  • KRTAP20-4:keratin associated protein 20-4 [Gene - HGNC]
  • KRTAP21-1:keratin associated protein 21-1 [Gene - HGNC]
  • KRTAP21-2:keratin associated protein 21-2 [Gene - HGNC]
  • KRTAP21-3:keratin associated protein 21-3 [Gene - HGNC]
  • KRTAP22-1:keratin associated protein 22-1 [Gene - HGNC]
  • KRTAP22-2:keratin associated protein 22-2 [Gene - HGNC]
  • KRTAP23-1:keratin associated protein 23-1 [Gene - HGNC]
  • KRTAP24-1:keratin associated protein 24-1 [Gene - OMIM - HGNC]
  • KRTAP25-1:keratin associated protein 25-1 [Gene - HGNC]
  • KRTAP26-1:keratin associated protein 26-1 [Gene - HGNC]
  • KRTAP27-1:keratin associated protein 27-1 [Gene - HGNC]
  • KRTAP6-1:keratin associated protein 6-1 [Gene - HGNC]
  • KRTAP6-2:keratin associated protein 6-2 [Gene - HGNC]
  • KRTAP6-3:keratin associated protein 6-3 [Gene - HGNC]
  • KRTAP7-1:keratin associated protein 7-1 [Gene - HGNC]
  • KRTAP8-1:keratin associated protein 8-1 [Gene - HGNC]
  • LIPI:lipase I [Gene - OMIM - HGNC]
  • LTN1:listerin E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • LINC00113:long intergenic non-protein coding RNA 113 [Gene - HGNC]
  • LINC01425:long intergenic non-protein coding RNA 1425 [Gene - HGNC]
  • LINC01549:long intergenic non-protein coding RNA 1549 [Gene - HGNC]
  • LINC00158:long intergenic non-protein coding RNA 158 [Gene - HGNC]
  • LINC00161:long intergenic non-protein coding RNA 161 [Gene - HGNC]
  • LINC01673:long intergenic non-protein coding RNA 1673 [Gene - HGNC]
  • LINC01683:long intergenic non-protein coding RNA 1683 [Gene - HGNC]
  • LINC01684:long intergenic non-protein coding RNA 1684 [Gene - HGNC]
  • LINC01687:long intergenic non-protein coding RNA 1687 [Gene - HGNC]
  • LINC01689:long intergenic non-protein coding RNA 1689 [Gene - HGNC]
  • LINC01692:long intergenic non-protein coding RNA 1692 [Gene - HGNC]
  • LINC01695:long intergenic non-protein coding RNA 1695 [Gene - HGNC]
  • LINC01697:long intergenic non-protein coding RNA 1697 [Gene - HGNC]
  • LINC00189:long intergenic non-protein coding RNA 189 [Gene - HGNC]
  • LINC02573:long intergenic non-protein coding RNA 2573 [Gene - HGNC]
  • LINC02920:long intergenic non-protein coding RNA 2920 [Gene - HGNC]
  • LINC00307:long intergenic non-protein coding RNA 307 [Gene - HGNC]
  • LINC00308:long intergenic non-protein coding RNA 308 [Gene - HGNC]
  • LINC00314:long intergenic non-protein coding RNA 314 [Gene - HGNC]
  • LINC00317:long intergenic non-protein coding RNA 317 [Gene - HGNC]
  • LINC00320:long intergenic non-protein coding RNA 320 [Gene - HGNC]
  • LINC00515:long intergenic non-protein coding RNA 515 [Gene - HGNC]
  • LOC107403075:meiotic recombination hotspot A [Gene]
  • LOC107403153:meiotic recombination hotspot B [Gene]
  • MIR125B2:microRNA 125b-2 [Gene - OMIM - HGNC]
  • MIR155:microRNA 155 [Gene - OMIM - HGNC]
  • MIR4327:microRNA 4327 [Gene - HGNC]
  • MIR4759:microRNA 4759 [Gene - HGNC]
  • MIR548X:microRNA 548x [Gene - HGNC]
  • MIR6130:microRNA 6130 [Gene - HGNC]
  • MIR99A:microRNA 99a [Gene - OMIM - HGNC]
  • MIRLET7C:microRNA let-7c [Gene - OMIM - HGNC]
  • MIR99AHG:mir-99a-let-7c cluster host gene [Gene - OMIM - HGNC]
  • MRPL39:mitochondrial ribosomal protein L39 [Gene - OMIM - HGNC]
  • NCAM2:neural cell adhesion molecule 2 [Gene - OMIM - HGNC]
  • NRIP1:nuclear receptor interacting protein 1 [Gene - OMIM - HGNC]
  • SNORD74B:small nucleolar RNA, C/D box 74B [Gene - HGNC]
  • TRG-GCC1-5:tRNA-Gly (anticodon GCC) 1-5 [Gene - HGNC]
  • TMPRSS15:transmembrane serine protease 15 [Gene - OMIM - HGNC]
  • USP16:ubiquitin specific peptidase 16 [Gene - OMIM - HGNC]
  • USP25:ubiquitin specific peptidase 25 [Gene - OMIM - HGNC]
  • LOC101927745:uncharacterized LOC101927745 [Gene]
  • LOC105372753:uncharacterized LOC105372753 [Gene]
  • LOC105377134:uncharacterized LOC105377134 [Gene]
  • LOC388813:uncharacterized protein ENSP00000383407-like [Gene]
Variant type:
copy number loss
Cytogenetic location:
21q11.2-22.11
Genomic location:
Preferred name:
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1
HGVS:
  • NC_000021.9:g.(?_14000720)_(30903065_?)del
  • NC_000021.7:g.(?_14294912)_(31197255_?)del
  • NC_000021.8:g.(?_15373041)_(32275384_?)del
Links:
dbVar: nssv577815; dbVar: nsv531516
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080153ISCA Site 6

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]

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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 6, SCV000080153.5

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

Last Updated: Sep 1, 2024