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GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2009
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:
RCV000133838.8

Allele description [Variation Report for GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1]

GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1

Genes:
  • ALG8:ALG8 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
  • ANKRD42-DT:ANKRD42 divergent transcript [Gene - HGNC]
  • LOC130006447:ATAC-STARR-seq lymphoblastoid active region 5282 [Gene]
  • LOC130006448:ATAC-STARR-seq lymphoblastoid active region 5284 [Gene]
  • LOC130006452:ATAC-STARR-seq lymphoblastoid active region 5287 [Gene]
  • LOC130006454:ATAC-STARR-seq lymphoblastoid active region 5288 [Gene]
  • LOC130006455:ATAC-STARR-seq lymphoblastoid active region 5290 [Gene]
  • LOC130006456:ATAC-STARR-seq lymphoblastoid active region 5291 [Gene]
  • LOC130006458:ATAC-STARR-seq lymphoblastoid active region 5292 [Gene]
  • LOC130006459:ATAC-STARR-seq lymphoblastoid active region 5293 [Gene]
  • LOC130006460:ATAC-STARR-seq lymphoblastoid active region 5294 [Gene]
  • LOC130006462:ATAC-STARR-seq lymphoblastoid active region 5295 [Gene]
  • LOC130006463:ATAC-STARR-seq lymphoblastoid active region 5296 [Gene]
  • LOC130006467:ATAC-STARR-seq lymphoblastoid active region 5297 [Gene]
  • LOC130006468:ATAC-STARR-seq lymphoblastoid active region 5298 [Gene]
  • LOC130006470:ATAC-STARR-seq lymphoblastoid active region 5299 [Gene]
  • LOC130006472:ATAC-STARR-seq lymphoblastoid active region 5300 [Gene]
  • LOC130006473:ATAC-STARR-seq lymphoblastoid active region 5301 [Gene]
  • LOC130006474:ATAC-STARR-seq lymphoblastoid active region 5302 [Gene]
  • LOC130006480:ATAC-STARR-seq lymphoblastoid active region 5303 [Gene]
  • LOC130006481:ATAC-STARR-seq lymphoblastoid active region 5304 [Gene]
  • LOC130006482:ATAC-STARR-seq lymphoblastoid active region 5306 [Gene]
  • LOC130006483:ATAC-STARR-seq lymphoblastoid active region 5307 [Gene]
  • LOC130006486:ATAC-STARR-seq lymphoblastoid active region 5312 [Gene]
  • LOC130006490:ATAC-STARR-seq lymphoblastoid active region 5313 [Gene]
  • LOC130006491:ATAC-STARR-seq lymphoblastoid active region 5314 [Gene]
  • LOC130006492:ATAC-STARR-seq lymphoblastoid active region 5315 [Gene]
  • LOC130006493:ATAC-STARR-seq lymphoblastoid active region 5316 [Gene]
  • LOC130006497:ATAC-STARR-seq lymphoblastoid active region 5317 [Gene]
  • LOC130006498:ATAC-STARR-seq lymphoblastoid active region 5318 [Gene]
  • LOC130006499:ATAC-STARR-seq lymphoblastoid active region 5319 [Gene]
  • LOC130006500:ATAC-STARR-seq lymphoblastoid active region 5320 [Gene]
  • LOC130006501:ATAC-STARR-seq lymphoblastoid active region 5321 [Gene]
  • LOC130006503:ATAC-STARR-seq lymphoblastoid active region 5322 [Gene]
  • LOC130006504:ATAC-STARR-seq lymphoblastoid active region 5323 [Gene]
  • LOC130006505:ATAC-STARR-seq lymphoblastoid active region 5324 [Gene]
  • LOC130006506:ATAC-STARR-seq lymphoblastoid active region 5325 [Gene]
  • LOC130006507:ATAC-STARR-seq lymphoblastoid active region 5326 [Gene]
  • LOC130006508:ATAC-STARR-seq lymphoblastoid active region 5327 [Gene]
  • LOC130006509:ATAC-STARR-seq lymphoblastoid active region 5328 [Gene]
  • LOC130006512:ATAC-STARR-seq lymphoblastoid active region 5329 [Gene]
  • LOC130006513:ATAC-STARR-seq lymphoblastoid active region 5330 [Gene]
  • LOC130006514:ATAC-STARR-seq lymphoblastoid active region 5331 [Gene]
  • LOC130006515:ATAC-STARR-seq lymphoblastoid active region 5332 [Gene]
  • LOC130006516:ATAC-STARR-seq lymphoblastoid active region 5333 [Gene]
  • LOC130006517:ATAC-STARR-seq lymphoblastoid active region 5334 [Gene]
  • LOC130006518:ATAC-STARR-seq lymphoblastoid active region 5335 [Gene]
  • LOC130006522:ATAC-STARR-seq lymphoblastoid active region 5337 [Gene]
  • LOC130006523:ATAC-STARR-seq lymphoblastoid active region 5338 [Gene]
  • LOC130006524:ATAC-STARR-seq lymphoblastoid active region 5339 [Gene]
  • LOC130006525:ATAC-STARR-seq lymphoblastoid active region 5340 [Gene]
  • LOC130006526:ATAC-STARR-seq lymphoblastoid active region 5341 [Gene]
  • LOC130006527:ATAC-STARR-seq lymphoblastoid active region 5342 [Gene]
  • LOC130006528:ATAC-STARR-seq lymphoblastoid active region 5343 [Gene]
  • LOC130006529:ATAC-STARR-seq lymphoblastoid active region 5344 [Gene]
  • LOC130006530:ATAC-STARR-seq lymphoblastoid active region 5345 [Gene]
  • LOC130006531:ATAC-STARR-seq lymphoblastoid active region 5346 [Gene]
  • LOC130006533:ATAC-STARR-seq lymphoblastoid active region 5347 [Gene]
  • LOC130006535:ATAC-STARR-seq lymphoblastoid active region 5349 [Gene]
  • LOC130006536:ATAC-STARR-seq lymphoblastoid active region 5350 [Gene]
  • LOC130006537:ATAC-STARR-seq lymphoblastoid active region 5351 [Gene]
  • LOC130006538:ATAC-STARR-seq lymphoblastoid active region 5354 [Gene]
  • LOC130006540:ATAC-STARR-seq lymphoblastoid active region 5355 [Gene]
  • LOC130006541:ATAC-STARR-seq lymphoblastoid active region 5356 [Gene]
  • LOC130006542:ATAC-STARR-seq lymphoblastoid active region 5357 [Gene]
  • LOC130006543:ATAC-STARR-seq lymphoblastoid active region 5358 [Gene]
  • LOC130006544:ATAC-STARR-seq lymphoblastoid active region 5359 [Gene]
  • LOC130006545:ATAC-STARR-seq lymphoblastoid active region 5360 [Gene]
  • LOC130006546:ATAC-STARR-seq lymphoblastoid active region 5362 [Gene]
  • LOC130006547:ATAC-STARR-seq lymphoblastoid active region 5363 [Gene]
  • LOC130006548:ATAC-STARR-seq lymphoblastoid active region 5364 [Gene]
  • LOC130006549:ATAC-STARR-seq lymphoblastoid active region 5365 [Gene]
  • LOC130006550:ATAC-STARR-seq lymphoblastoid active region 5366 [Gene]
  • LOC130006551:ATAC-STARR-seq lymphoblastoid active region 5367 [Gene]
  • LOC130006552:ATAC-STARR-seq lymphoblastoid active region 5368 [Gene]
  • LOC130006553:ATAC-STARR-seq lymphoblastoid active region 5369 [Gene]
  • LOC130006554:ATAC-STARR-seq lymphoblastoid active region 5370 [Gene]
  • LOC130006556:ATAC-STARR-seq lymphoblastoid active region 5371 [Gene]
  • LOC130006557:ATAC-STARR-seq lymphoblastoid active region 5372 [Gene]
  • LOC130006558:ATAC-STARR-seq lymphoblastoid active region 5373 [Gene]
  • LOC130006559:ATAC-STARR-seq lymphoblastoid active region 5374 [Gene]
  • LOC130006564:ATAC-STARR-seq lymphoblastoid active region 5375 [Gene]
  • LOC130006566:ATAC-STARR-seq lymphoblastoid active region 5376 [Gene]
  • LOC130006567:ATAC-STARR-seq lymphoblastoid active region 5377 [Gene]
  • LOC130006568:ATAC-STARR-seq lymphoblastoid active region 5378 [Gene]
  • LOC130006569:ATAC-STARR-seq lymphoblastoid active region 5379 [Gene]
  • LOC130006570:ATAC-STARR-seq lymphoblastoid active region 5380 [Gene]
  • LOC130006571:ATAC-STARR-seq lymphoblastoid active region 5381 [Gene]
  • LOC130006572:ATAC-STARR-seq lymphoblastoid active region 5382 [Gene]
  • LOC130006573:ATAC-STARR-seq lymphoblastoid active region 5383 [Gene]
  • LOC130006574:ATAC-STARR-seq lymphoblastoid active region 5384 [Gene]
  • LOC130006575:ATAC-STARR-seq lymphoblastoid active region 5385 [Gene]
  • LOC130006576:ATAC-STARR-seq lymphoblastoid active region 5386 [Gene]
  • LOC130006578:ATAC-STARR-seq lymphoblastoid active region 5387 [Gene]
  • LOC130006580:ATAC-STARR-seq lymphoblastoid active region 5388 [Gene]
  • LOC130006581:ATAC-STARR-seq lymphoblastoid active region 5389 [Gene]
  • LOC130006583:ATAC-STARR-seq lymphoblastoid active region 5390 [Gene]
  • LOC130006584:ATAC-STARR-seq lymphoblastoid active region 5391 [Gene]
  • LOC130006585:ATAC-STARR-seq lymphoblastoid active region 5392 [Gene]
  • LOC130006586:ATAC-STARR-seq lymphoblastoid active region 5393 [Gene]
  • LOC130006587:ATAC-STARR-seq lymphoblastoid active region 5394 [Gene]
  • LOC130006588:ATAC-STARR-seq lymphoblastoid active region 5395 [Gene]
  • LOC130006589:ATAC-STARR-seq lymphoblastoid active region 5396 [Gene]
  • LOC130006594:ATAC-STARR-seq lymphoblastoid active region 5397 [Gene]
  • LOC130006595:ATAC-STARR-seq lymphoblastoid active region 5398 [Gene]
  • LOC130006597:ATAC-STARR-seq lymphoblastoid active region 5401 [Gene]
  • LOC130006599:ATAC-STARR-seq lymphoblastoid active region 5402 [Gene]
  • LOC130006600:ATAC-STARR-seq lymphoblastoid active region 5403 [Gene]
  • LOC130006602:ATAC-STARR-seq lymphoblastoid active region 5405 [Gene]
  • LOC130006603:ATAC-STARR-seq lymphoblastoid active region 5407 [Gene]
  • LOC130006604:ATAC-STARR-seq lymphoblastoid active region 5409 [Gene]
  • LOC130006605:ATAC-STARR-seq lymphoblastoid active region 5410 [Gene]
  • LOC130006606:ATAC-STARR-seq lymphoblastoid active region 5411 [Gene]
  • LOC130006608:ATAC-STARR-seq lymphoblastoid active region 5412 [Gene]
  • LOC130006609:ATAC-STARR-seq lymphoblastoid active region 5413 [Gene]
  • LOC130006611:ATAC-STARR-seq lymphoblastoid active region 5414 [Gene]
  • LOC130006615:ATAC-STARR-seq lymphoblastoid active region 5416 [Gene]
  • LOC130006618:ATAC-STARR-seq lymphoblastoid active region 5417 [Gene]
  • LOC130006619:ATAC-STARR-seq lymphoblastoid active region 5418 [Gene]
  • LOC130006620:ATAC-STARR-seq lymphoblastoid active region 5419 [Gene]
  • LOC130006622:ATAC-STARR-seq lymphoblastoid active region 5420 [Gene]
  • LOC130006623:ATAC-STARR-seq lymphoblastoid active region 5421 [Gene]
  • LOC130006624:ATAC-STARR-seq lymphoblastoid active region 5422 [Gene]
  • LOC130006625:ATAC-STARR-seq lymphoblastoid active region 5423 [Gene]
  • LOC130006626:ATAC-STARR-seq lymphoblastoid active region 5424 [Gene]
  • LOC130006627:ATAC-STARR-seq lymphoblastoid active region 5425 [Gene]
  • LOC130006628:ATAC-STARR-seq lymphoblastoid active region 5426 [Gene]
  • LOC130006449:ATAC-STARR-seq lymphoblastoid silent region 3778 [Gene]
  • LOC130006450:ATAC-STARR-seq lymphoblastoid silent region 3779 [Gene]
  • LOC130006451:ATAC-STARR-seq lymphoblastoid silent region 3780 [Gene]
  • LOC130006453:ATAC-STARR-seq lymphoblastoid silent region 3781 [Gene]
  • LOC130006457:ATAC-STARR-seq lymphoblastoid silent region 3783 [Gene]
  • LOC130006461:ATAC-STARR-seq lymphoblastoid silent region 3784 [Gene]
  • LOC130006464:ATAC-STARR-seq lymphoblastoid silent region 3785 [Gene]
  • LOC130006465:ATAC-STARR-seq lymphoblastoid silent region 3786 [Gene]
  • LOC130006466:ATAC-STARR-seq lymphoblastoid silent region 3787 [Gene]
  • LOC130006469:ATAC-STARR-seq lymphoblastoid silent region 3788 [Gene]
  • LOC130006471:ATAC-STARR-seq lymphoblastoid silent region 3790 [Gene]
  • LOC130006475:ATAC-STARR-seq lymphoblastoid silent region 3791 [Gene]
  • LOC130006476:ATAC-STARR-seq lymphoblastoid silent region 3792 [Gene]
  • LOC130006477:ATAC-STARR-seq lymphoblastoid silent region 3793 [Gene]
  • LOC130006478:ATAC-STARR-seq lymphoblastoid silent region 3794 [Gene]
  • LOC130006479:ATAC-STARR-seq lymphoblastoid silent region 3795 [Gene]
  • LOC130006484:ATAC-STARR-seq lymphoblastoid silent region 3800 [Gene]
  • LOC130006485:ATAC-STARR-seq lymphoblastoid silent region 3803 [Gene]
  • LOC130006487:ATAC-STARR-seq lymphoblastoid silent region 3804 [Gene]
  • LOC130006488:ATAC-STARR-seq lymphoblastoid silent region 3805 [Gene]
  • LOC130006489:ATAC-STARR-seq lymphoblastoid silent region 3807 [Gene]
  • LOC130006494:ATAC-STARR-seq lymphoblastoid silent region 3808 [Gene]
  • LOC130006495:ATAC-STARR-seq lymphoblastoid silent region 3809 [Gene]
  • LOC130006496:ATAC-STARR-seq lymphoblastoid silent region 3810 [Gene]
  • LOC130006502:ATAC-STARR-seq lymphoblastoid silent region 3813 [Gene]
  • LOC130006510:ATAC-STARR-seq lymphoblastoid silent region 3814 [Gene]
  • LOC130006511:ATAC-STARR-seq lymphoblastoid silent region 3815 [Gene]
  • LOC130006519:ATAC-STARR-seq lymphoblastoid silent region 3816 [Gene]
  • LOC130006520:ATAC-STARR-seq lymphoblastoid silent region 3817 [Gene]
  • LOC130006521:ATAC-STARR-seq lymphoblastoid silent region 3818 [Gene]
  • LOC130006532:ATAC-STARR-seq lymphoblastoid silent region 3819 [Gene]
  • LOC130006534:ATAC-STARR-seq lymphoblastoid silent region 3820 [Gene]
  • LOC130006539:ATAC-STARR-seq lymphoblastoid silent region 3821 [Gene]
  • LOC130006555:ATAC-STARR-seq lymphoblastoid silent region 3822 [Gene]
  • LOC130006560:ATAC-STARR-seq lymphoblastoid silent region 3827 [Gene]
  • LOC130006561:ATAC-STARR-seq lymphoblastoid silent region 3828 [Gene]
  • LOC130006562:ATAC-STARR-seq lymphoblastoid silent region 3829 [Gene]
  • LOC130006563:ATAC-STARR-seq lymphoblastoid silent region 3830 [Gene]
  • LOC130006565:ATAC-STARR-seq lymphoblastoid silent region 3832 [Gene]
  • LOC130006577:ATAC-STARR-seq lymphoblastoid silent region 3833 [Gene]
  • LOC130006579:ATAC-STARR-seq lymphoblastoid silent region 3834 [Gene]
  • LOC130006582:ATAC-STARR-seq lymphoblastoid silent region 3835 [Gene]
  • LOC130006590:ATAC-STARR-seq lymphoblastoid silent region 3836 [Gene]
  • LOC130006591:ATAC-STARR-seq lymphoblastoid silent region 3837 [Gene]
  • LOC130006592:ATAC-STARR-seq lymphoblastoid silent region 3838 [Gene]
  • LOC130006593:ATAC-STARR-seq lymphoblastoid silent region 3839 [Gene]
  • LOC130006596:ATAC-STARR-seq lymphoblastoid silent region 3840 [Gene]
  • LOC130006598:ATAC-STARR-seq lymphoblastoid silent region 3841 [Gene]
  • LOC130006601:ATAC-STARR-seq lymphoblastoid silent region 3843 [Gene]
  • LOC130006607:ATAC-STARR-seq lymphoblastoid silent region 3845 [Gene]
  • LOC130006610:ATAC-STARR-seq lymphoblastoid silent region 3846 [Gene]
  • LOC130006612:ATAC-STARR-seq lymphoblastoid silent region 3847 [Gene]
  • LOC130006613:ATAC-STARR-seq lymphoblastoid silent region 3848 [Gene]
  • LOC130006614:ATAC-STARR-seq lymphoblastoid silent region 3849 [Gene]
  • LOC130006616:ATAC-STARR-seq lymphoblastoid silent region 3850 [Gene]
  • LOC130006617:ATAC-STARR-seq lymphoblastoid silent region 3851 [Gene]
  • LOC130006621:ATAC-STARR-seq lymphoblastoid silent region 3852 [Gene]
  • LOC130006629:ATAC-STARR-seq lymphoblastoid silent region 3853 [Gene]
  • LOC130006630:ATAC-STARR-seq lymphoblastoid silent region 3854 [Gene]
  • LOC130006631:ATAC-STARR-seq lymphoblastoid silent region 3855 [Gene]
  • LOC126861271:BRD4-independent group 4 enhancer GRCh37_chr11:76674446-76675645 [Gene]
  • LOC126861275:BRD4-independent group 4 enhancer GRCh37_chr11:79262907-79264106 [Gene]
  • LOC126861282:BRD4-independent group 4 enhancer GRCh37_chr11:85317081-85318280 [Gene]
  • LOC126861288:BRD4-independent group 4 enhancer GRCh37_chr11:87636982-87638181 [Gene]
  • LOC126861289:BRD4-independent group 4 enhancer GRCh37_chr11:87979456-87980655 [Gene]
  • LOC126861302:BRD4-independent group 4 enhancer GRCh37_chr11:95092304-95093503 [Gene]
  • LOC126861305:BRD4-independent group 4 enhancer GRCh37_chr11:96057720-96058919 [Gene]
  • CCDC90B-AS1:CCDC90B antisense RNA 1 [Gene - HGNC]
  • LOC126861269:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76253613-76254812 [Gene]
  • LOC126861270:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76550011-76551210 [Gene]
  • LOC126861272:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:78333374-78334573 [Gene]
  • LOC126861274:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:79129588-79130787 [Gene]
  • LOC126861277:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:79650639-79651838 [Gene]
  • LOC126861279:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:82569102-82570301 [Gene]
  • LOC126861281:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:83769989-83771188 [Gene]
  • LOC126861292:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:92360199-92361398 [Gene]
  • LOC126861295:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:93471084-93472283 [Gene]
  • LOC126861298:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:94011033-94012232 [Gene]
  • LOC126861301:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:94841280-94842479 [Gene]
  • LOC126861306:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:97444588-97445787 [Gene]
  • CREBZF:CREB/ATF bZIP transcription factor [Gene - OMIM - HGNC]
  • LOC116216156:CRISPRi-validated cis-regulatory element chr11.4413 [Gene]
  • LOC116216157:CRISPRi-validated cis-regulatory element chr11.4478 [Gene]
  • LOC116216158:CRISPRi-validated cis-regulatory element chr11.4537 [Gene]
  • LOC116225292:CRISPRi-validated cis-regulatory element chr11.4678 [Gene]
  • LOC116225293:CRISPRi-validated cis-regulatory element chr11.4679 [Gene]
  • LOC116225294:CRISPRi-validated cis-regulatory element chr11.4680 [Gene]
  • LOC116225295:CRISPRi-validated cis-regulatory element chr11.4681 [Gene]
  • LOC116225296:CRISPRi-validated cis-regulatory element chr11.4684 [Gene]
  • LOC116225297:CRISPRi-validated cis-regulatory element chr11.4685 [Gene]
  • LOC116225298:CRISPRi-validated cis-regulatory element chr11.4687 [Gene]
  • LOC116225299:CRISPRi-validated cis-regulatory element chr11.4755 [Gene]
  • LOC116225300:CRISPRi-validated cis-regulatory element chr11.4758 [Gene]
  • LOC116225301:CRISPRi-validated cis-regulatory element chr11.4868 [Gene]
  • CWC15:CWC15 spliceosome associated protein homolog [Gene - HGNC]
  • DISC1FP1:DISC1 fusion partner 1 [Gene - HGNC]
  • DLG2-AS2:DLG2 antisense RNA 2 [Gene - HGNC]
  • LOC108281118:DLG2 intron CAGE-defined low expression enhancer [Gene]
  • DDIAS:DNA damage induced apoptosis suppressor [Gene - OMIM - HGNC]
  • EMSY-DT:EMSY divergent transcript [Gene - HGNC]
  • EMSY:EMSY transcriptional repressor, BRCA2 interacting [Gene - OMIM - HGNC]
  • FAT3:FAT atypical cadherin 3 [Gene - OMIM - HGNC]
  • FZD4-DT:FZD4 divergent transcript [Gene - HGNC]
  • GPR83:G protein-coupled receptor 83 [Gene - OMIM - HGNC]
  • GAB2:GRB2 associated binding protein 2 [Gene - OMIM - HGNC]
  • GRM5-AS1:GRM5 antisense RNA 1 [Gene - HGNC]
  • GVQW3:GVQW motif containing 3 [Gene - HGNC]
  • LOC111591509:HNF4 motif-containing MPRA enhancer 300 [Gene]
  • IZUMO1R:IZUMO1 receptor, JUNO [Gene - OMIM - HGNC]
  • JRKL:JRK like [Gene - OMIM - HGNC]
  • JRKL-AS1:JRKL antisense RNA 1 [Gene - HGNC]
  • KCTD21-AS1:KCTD21 antisense RNA 1 [Gene - HGNC]
  • ME3-DT:ME3 divergent transcript [Gene - HGNC]
  • LOC126861280:MED14-independent group 3 enhancer GRCh37_chr11:82877478-82878677 [Gene]
  • LOC126861283:MED14-independent group 3 enhancer GRCh37_chr11:85472379-85473578 [Gene]
  • LOC126861284:MED14-independent group 3 enhancer GRCh37_chr11:85779916-85781115 [Gene]
  • LOC126861286:MED14-independent group 3 enhancer GRCh37_chr11:86234525-86235724 [Gene]
  • LOC126861287:MED14-independent group 3 enhancer GRCh37_chr11:87314589-87315788 [Gene]
  • LOC126861290:MED14-independent group 3 enhancer GRCh37_chr11:91221826-91223025 [Gene]
  • LOC126861291:MED14-independent group 3 enhancer GRCh37_chr11:91902042-91903241 [Gene]
  • LOC126861293:MED14-independent group 3 enhancer GRCh37_chr11:92621650-92622849 [Gene]
  • LOC126861296:MED14-independent group 3 enhancer GRCh37_chr11:93885086-93886285 [Gene]
  • LOC126861297:MED14-independent group 3 enhancer GRCh37_chr11:93970861-93972060 [Gene]
  • LOC126861300:MED14-independent group 3 enhancer GRCh37_chr11:94439150-94440349 [Gene]
  • LOC126861303:MED14-independent group 3 enhancer GRCh37_chr11:95717913-95719112 [Gene]
  • LOC126861307:MED14-independent group 3 enhancer GRCh37_chr11:97613933-97615132 [Gene]
  • LOC126861308:MED14-independent group 3 enhancer GRCh37_chr11:97690433-97691632 [Gene]
  • LOC111721716:MIR3 retrotransposon enhancer-blocking element [Gene]
  • MIR4300HG:MIR4300 host gene [Gene - HGNC]
  • LOC129390311:MPRA-validated peak1353 silencer [Gene]
  • LOC129390312:MPRA-validated peak1361 silencer [Gene]
  • LOC129390313:MPRA-validated peak1362 silencer [Gene]
  • LOC129390314:MPRA-validated peak1363 silencer [Gene]
  • LOC129390315:MPRA-validated peak1365 silencer [Gene]
  • LOC129390316:MPRA-validated peak1367 silencer [Gene]
  • LOC129390317:MPRA-validated peak1371 silencer [Gene]
  • LOC129390318:MPRA-validated peak1373 silencer [Gene]
  • LOC129390319:MPRA-validated peak1374 silencer [Gene]
  • LOC129390320:MPRA-validated peak1375 silencer [Gene]
  • LOC129390321:MPRA-validated peak1376 silencer [Gene]
  • LOC129390322:MPRA-validated peak1379 silencer [Gene]
  • LOC129390323:MPRA-validated peak1380 silencer [Gene]
  • LOC129390324:MPRA-validated peak1382 silencer [Gene]
  • LOC129390325:MPRA-validated peak1383 silencer [Gene]
  • LOC129390326:MPRA-validated peak1386 silencer [Gene]
  • LOC129390327:MPRA-validated peak1387 silencer [Gene]
  • LOC129390328:MPRA-validated peak1388 silencer [Gene]
  • LOC129390329:MPRA-validated peak1391 silencer [Gene]
  • LOC129390330:MPRA-validated peak1393 silencer [Gene]
  • LOC129390331:MPRA-validated peak1397 silencer [Gene]
  • LOC129390332:MPRA-validated peak1402 silencer [Gene]
  • LOC129390333:MPRA-validated peak1405 silencer [Gene]
  • LOC129390334:MPRA-validated peak1408 silencer [Gene]
  • MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]
  • NAALAD2:N-acetylated alpha-linked acidic dipeptidase 2 [Gene - OMIM - HGNC]
  • NDUFC2:NADH:ubiquinone oxidoreductase subunit C2 [Gene - OMIM - HGNC]
  • NOX4:NADPH oxidase 4 [Gene - OMIM - HGNC]
  • NDUFC2-KCTD14:NDUFC2-KCTD14 readthrough [Gene - HGNC]
  • LOC132089943:Neanderthal introgressed variant-containing enhancer experimental_21738 [Gene]
  • LOC132089944:Neanderthal introgressed variant-containing enhancer experimental_21766 [Gene]
  • LOC132089945:Neanderthal introgressed variant-containing enhancer experimental_21850 [Gene]
  • LOC121832801:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:77270938-77272137 [Gene]
  • LOC126861273:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:78426174-78427373 [Gene]
  • LOC126861276:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:79326940-79328139 [Gene]
  • LOC126861278:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:81714171-81715370 [Gene]
  • LOC126861285:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:86153050-86154249 [Gene]
  • LOC126861294:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:92787513-92788712 [Gene]
  • LOC126861299:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:94317056-94318255 [Gene]
  • LOC126861304:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:95882751-95883950 [Gene]
  • LOC126861309:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:97836500-97837699 [Gene]
  • PCF11-AS1:PCF11 antisense RNA 1 [Gene - HGNC]
  • PCF11:PCF11 cleavage and polyadenylation factor subunit [Gene - OMIM - HGNC]
  • PIWIL4-AS1:PIWIL4 antisense RNA 1 [Gene - HGNC]
  • PRSS23-AS1:PRSS23 antisense RNA 1 [Gene - HGNC]
  • RAB30-DT:RAB30 divergent transcript [Gene - HGNC]
  • RAB30:RAB30, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB38:RAB38, member RAS oncogene family [Gene - OMIM - HGNC]
  • RSF1-IT1:RSF1 intronic transcript 1 [Gene - HGNC]
  • LOC112136088:Sharpr-MPRA regulatory region 10154 [Gene]
  • LOC121392932:Sharpr-MPRA regulatory region 10369 [Gene]
  • LOC124500693:Sharpr-MPRA regulatory region 10511 [Gene]
  • LOC124500696:Sharpr-MPRA regulatory region 10650 [Gene]
  • LOC124500695:Sharpr-MPRA regulatory region 11011 [Gene]
  • LOC121392933:Sharpr-MPRA regulatory region 11231 [Gene]
  • LOC121832817:Sharpr-MPRA regulatory region 11396 [Gene]
  • LOC124500697:Sharpr-MPRA regulatory region 11448 [Gene]
  • LOC124500699:Sharpr-MPRA regulatory region 11539 [Gene]
  • LOC124500704:Sharpr-MPRA regulatory region 11891 [Gene]
  • LOC112136097:Sharpr-MPRA regulatory region 12150 [Gene]
  • LOC121832818:Sharpr-MPRA regulatory region 12486 [Gene]
  • LOC124500705:Sharpr-MPRA regulatory region 13347 [Gene]
  • LOC112136090:Sharpr-MPRA regulatory region 1403 [Gene]
  • LOC124544583:Sharpr-MPRA regulatory region 14517 [Gene]
  • LOC121392934:Sharpr-MPRA regulatory region 15019 [Gene]
  • LOC124544579:Sharpr-MPRA regulatory region 15181 [Gene]
  • LOC124500708:Sharpr-MPRA regulatory region 1521 [Gene]
  • LOC124544575:Sharpr-MPRA regulatory region 15382 [Gene]
  • LOC124544578:Sharpr-MPRA regulatory region 15479 [Gene]
  • LOC124500710:Sharpr-MPRA regulatory region 1780 [Gene]
  • LOC112136091:Sharpr-MPRA regulatory region 2371 [Gene]
  • LOC124625821:Sharpr-MPRA regulatory region 282 [Gene]
  • LOC124500694:Sharpr-MPRA regulatory region 3332 [Gene]
  • LOC124544577:Sharpr-MPRA regulatory region 337 [Gene]
  • LOC124500702:Sharpr-MPRA regulatory region 3734 [Gene]
  • LOC112136096:Sharpr-MPRA regulatory region 4215 [Gene]
  • LOC121392931:Sharpr-MPRA regulatory region 5087 [Gene]
  • LOC124625822:Sharpr-MPRA regulatory region 5330 [Gene]
  • LOC112136095:Sharpr-MPRA regulatory region 5970 [Gene]
  • LOC124625823:Sharpr-MPRA regulatory region 6339 [Gene]
  • LOC124500709:Sharpr-MPRA regulatory region 6561 [Gene]
  • LOC124500707:Sharpr-MPRA regulatory region 6909 [Gene]
  • LOC124544574:Sharpr-MPRA regulatory region 6977 [Gene]
  • LOC124544580:Sharpr-MPRA regulatory region 7264 [Gene]
  • LOC121392935:Sharpr-MPRA regulatory region 7470 [Gene]
  • LOC124500698:Sharpr-MPRA regulatory region 74 [Gene]
  • LOC124500711:Sharpr-MPRA regulatory region 7525 [Gene]
  • LOC124544582:Sharpr-MPRA regulatory region 7617 [Gene]
  • LOC124500706:Sharpr-MPRA regulatory region 8024 [Gene]
  • LOC112136093:Sharpr-MPRA regulatory region 8285 [Gene]
  • LOC121832800:Sharpr-MPRA regulatory region 9026 [Gene]
  • LOC124500703:Sharpr-MPRA regulatory region 9338 [Gene]
  • LOC124544581:Sharpr-MPRA regulatory region 9498 [Gene]
  • LOC112136089:Sharpr-MPRA regulatory region 9860 [Gene]
  • TAF1D:TATA-box binding protein associated factor, RNA polymerase I subunit D [Gene - OMIM - HGNC]
  • THAP12:THAP domain containing 12 [Gene - OMIM - HGNC]
  • TSKU-AS1:TSKU antisense RNA 1 [Gene - HGNC]
  • B3GNT6:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 [Gene - OMIM - HGNC]
  • UVRAG:UV radiation resistance associated [Gene - OMIM - HGNC]
  • VSTM5:V-set and transmembrane domain containing 5 [Gene - HGNC]
  • LOC110121365:VISTA enhancer hs1435 [Gene]
  • LOC114827859:VISTA enhancer hs2531 [Gene]
  • WNT11:Wnt family member 11 [Gene - OMIM - HGNC]
  • AAMDC:adipogenesis associated Mth938 domain containing [Gene - OMIM - HGNC]
  • ACER3:alkaline ceramidase 3 [Gene - OMIM - HGNC]
  • AMOTL1:angiomotin like 1 [Gene - OMIM - HGNC]
  • ANKRD42:ankyrin repeat domain 42 [Gene - OMIM - HGNC]
  • ANKRD49:ankyrin repeat domain 49 [Gene - OMIM - HGNC]
  • AQP11:aquaporin 11 [Gene - OMIM - HGNC]
  • NARS2:asparaginyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • CAPN5:calpain 5 [Gene - OMIM - HGNC]
  • CTSC:cathepsin C [Gene - OMIM - HGNC]
  • CEP295:centrosomal protein 295 [Gene - OMIM - HGNC]
  • CEP57:centrosomal protein 57 [Gene - OMIM - HGNC]
  • CLNS1A:chloride nucleotide-sensitive channel 1A [Gene - OMIM - HGNC]
  • C11orf54:chromosome 11 open reading frame 54 [Gene - OMIM - HGNC]
  • C11orf97:chromosome 11 open reading frame 97 [Gene - HGNC]
  • CCDC81:coiled-coil domain containing 81 [Gene - HGNC]
  • CCDC82:coiled-coil domain containing 82 [Gene - OMIM - HGNC]
  • CCDC83:coiled-coil domain containing 83 [Gene - HGNC]
  • CCDC89:coiled-coil domain containing 89 [Gene - HGNC]
  • CCDC90B:coiled-coil domain containing 90B [Gene - OMIM - HGNC]
  • CHORDC1:cysteine and histidine rich domain containing 1 [Gene - OMIM - HGNC]
  • DEUP1:deuterosome assembly protein 1 [Gene - OMIM - HGNC]
  • DLG2:discs large MAGUK scaffold protein 2 [Gene - OMIM - HGNC]
  • EED:embryonic ectoderm development [Gene - OMIM - HGNC]
  • ENDOD1:endonuclease domain containing 1 [Gene - OMIM - HGNC]
  • FAM181B:family with sequence similarity 181 member B [Gene - HGNC]
  • FAM76B:family with sequence similarity 76 member B [Gene - HGNC]
  • FOLH1B:folate hydrolase 1B [Gene - OMIM - HGNC]
  • FZD4:frizzled class receptor 4 [Gene - OMIM - HGNC]
  • FUT4:fucosyltransferase 4 [Gene - OMIM - HGNC]
  • GRM5:glutamate metabotropic receptor 5 [Gene - OMIM - HGNC]
  • GDPD4:glycerophosphodiester phosphodiesterase domain containing 4 [Gene - HGNC]
  • HIKESHI:heat shock protein nuclear import factor hikeshi [Gene - OMIM - HGNC]
  • HEPHL1:hephaestin like 1 [Gene - OMIM - HGNC]
  • INTS4:integrator complex subunit 4 [Gene - OMIM - HGNC]
  • LRRC32:leucine rich repeat containing 32 [Gene - OMIM - HGNC]
  • LNCRNA-IUR:lncRNA imatinib upregulated [Gene - HGNC]
  • LINC02553:long intergenic non-protein coding RNA 2553 [Gene - HGNC]
  • LINC02700:long intergenic non-protein coding RNA 2700 [Gene - HGNC]
  • LINC02711:long intergenic non-protein coding RNA 2711 [Gene - HGNC]
  • LINC02713:long intergenic non-protein coding RNA 2713 [Gene - HGNC]
  • LINC02720:long intergenic non-protein coding RNA 2720 [Gene - HGNC]
  • LINC02728:long intergenic non-protein coding RNA 2728 [Gene - HGNC]
  • LINC02734:long intergenic non-protein coding RNA 2734 [Gene - HGNC]
  • LINC02737:long intergenic non-protein coding RNA 2737 [Gene - HGNC]
  • LINC02746:long intergenic non-protein coding RNA 2746 [Gene - HGNC]
  • LINC02748:long intergenic non-protein coding RNA 2748 [Gene - HGNC]
  • LINC02756:long intergenic non-protein coding RNA 2756 [Gene - HGNC]
  • LINC02757:long intergenic non-protein coding RNA 2757 [Gene - HGNC]
  • LINC02951:long intergenic non-protein coding RNA 2951 [Gene - HGNC]
  • LINC03030:long intergenic non-protein coding RNA 3030 [Gene - HGNC]
  • KDM4D:lysine demethylase 4D [Gene - OMIM - HGNC]
  • KDM4E:lysine demethylase 4E [Gene - OMIM - HGNC]
  • KDM4F:lysine demethylase 4F [Gene - HGNC]
  • ME3:malic enzyme 3 [Gene - OMIM - HGNC]
  • MAML2:mastermind like transcriptional coactivator 2 [Gene - OMIM - HGNC]
  • MED17:mediator complex subunit 17 [Gene - OMIM - HGNC]
  • MTNR1B:melatonin receptor 1B [Gene - OMIM - HGNC]
  • MIR1260B:microRNA 1260b [Gene - OMIM - HGNC]
  • MIR1261:microRNA 1261 [Gene - HGNC]
  • MIR1304:microRNA 1304 [Gene - HGNC]
  • MIR3166:microRNA 3166 [Gene - HGNC]
  • MIR4300:microRNA 4300 [Gene - HGNC]
  • MIR4490:microRNA 4490 [Gene - HGNC]
  • MIR548L:microRNA 548l [Gene - HGNC]
  • MIR5579:microRNA 5579 [Gene - HGNC]
  • MIR6755:microRNA 6755 [Gene - HGNC]
  • MIR708:microRNA 708 [Gene - OMIM - HGNC]
  • MYO7A:myosin VIIA [Gene - OMIM - HGNC]
  • MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]
  • OMP:olfactory marker protein [Gene - OMIM - HGNC]
  • PAK1:p21 (RAC1) activated kinase 1 [Gene - OMIM - HGNC]
  • PANX1:pannexin 1 [Gene - OMIM - HGNC]
  • PICALM:phosphatidylinositol binding clathrin assembly protein [Gene - OMIM - HGNC]
  • PIWIL4:piwi like RNA-mediated gene silencing 4 [Gene - OMIM - HGNC]
  • KCTD14:potassium channel tetramerization domain containing 14 [Gene - HGNC]
  • KCTD21:potassium channel tetramerization domain containing 21 [Gene - OMIM - HGNC]
  • PRCP:prolylcarboxypeptidase [Gene - OMIM - HGNC]
  • RSF1:remodeling and spacing factor 1 [Gene - OMIM - HGNC]
  • SRSF8:serine and arginine rich splicing factor 8 [Gene - OMIM - HGNC]
  • PRSS23:serine protease 23 [Gene - OMIM - HGNC]
  • SESN3:sestrin 3 [Gene - OMIM - HGNC]
  • SMCO4:single-pass membrane protein with coiled-coil domains 4 [Gene - OMIM - HGNC]
  • SCARNA9:small Cajal body-specific RNA 9 [Gene - HGNC]
  • SNORD5:small nucleolar RNA, C/D box 5 [Gene - HGNC]
  • SNORD6:small nucleolar RNA, C/D box 6 [Gene - HGNC]
  • SNORA18:small nucleolar RNA, H/ACA box 18 [Gene - HGNC]
  • SNORA1:small nucleolar RNA, H/ACA box 1 [Gene - HGNC]
  • SNORA25:small nucleolar RNA, H/ACA box 25 [Gene - HGNC]
  • SNORA32:small nucleolar RNA, H/ACA box 32 [Gene - HGNC]
  • SNORA40:small nucleolar RNA, H/ACA box 40 [Gene - HGNC]
  • SNORA70E:small nucleolar RNA, H/ACA box 70E [Gene - HGNC]
  • SNORA8:small nucleolar RNA, H/ACA box 8 [Gene - HGNC]
  • SLC36A4:solute carrier family 36 member 4 [Gene - OMIM - HGNC]
  • SYTL2:synaptotagmin like 2 [Gene - OMIM - HGNC]
  • TRP-AGG2-4:tRNA-Pro (anticodon AGG) 2-4 [Gene - HGNC]
  • TRP-TGG2-1:tRNA-Pro (anticodon TGG) 2-1 [Gene - HGNC]
  • TENM4:teneurin transmembrane protein 4 [Gene - OMIM - HGNC]
  • THRSP:thyroid hormone responsive [Gene - OMIM - HGNC]
  • TMEM126A:transmembrane protein 126A [Gene - OMIM - HGNC]
  • TMEM126B:transmembrane protein 126B [Gene - OMIM - HGNC]
  • TMEM135:transmembrane protein 135 [Gene - OMIM - HGNC]
  • TRIM49:tripartite motif containing 49 [Gene - OMIM - HGNC]
  • TRIM49C:tripartite motif containing 49C [Gene - HGNC]
  • TRIM49D1:tripartite motif containing 49D1 [Gene - HGNC]
  • TRIM49D2:tripartite motif containing 49D2 [Gene - HGNC]
  • TRIM64:tripartite motif containing 64 [Gene - HGNC]
  • TRIM64B:tripartite motif containing 64B [Gene - HGNC]
  • TRIM77:tripartite motif containing 77 [Gene - HGNC]
  • TSKU:tsukushi, small leucine rich proteoglycan [Gene - OMIM - HGNC]
  • LOC107080646:tyrosinase 5' upstream regulatory sequence [Gene]
  • TYR:tyrosinase [Gene - OMIM - HGNC]
  • USP35:ubiquitin specific peptidase 35 [Gene - HGNC]
  • LOC100129203:uncharacterized LOC100129203 [Gene]
  • LOC101928896:uncharacterized LOC101928896 [Gene]
  • LOC101929174:uncharacterized LOC101929174 [Gene]
  • LOC124902727:uncharacterized LOC124902727 [Gene]
  • UBTFL1:upstream binding transcription factor like 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q13.5-22.1
Genomic location:
Preferred name:
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1
HGVS:
  • NC_000011.10:g.(?_75941754)_(98357960_?)del
  • NC_000011.8:g.(?_75330446)_(97733898_?)del
  • NC_000011.9:g.(?_75652798)_(98228688_?)del
Links:
dbVar: nssv576794; dbVar: nsv491920
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
SCV000173255ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 30, 2009) 		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

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, SCV000173255.3

#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