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GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 3, 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:
RCV000138038.5

Allele description [Variation Report for GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1]

GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1

Genes:
  • ARHGAP42-AS1:ARHGAP42 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC130006632:ATAC-STARR-seq lymphoblastoid active region 5428 [Gene]
  • LOC130006633:ATAC-STARR-seq lymphoblastoid active region 5429 [Gene]
  • LOC130006634:ATAC-STARR-seq lymphoblastoid active region 5430 [Gene]
  • LOC130006635:ATAC-STARR-seq lymphoblastoid active region 5431 [Gene]
  • LOC130006636:ATAC-STARR-seq lymphoblastoid active region 5432 [Gene]
  • LOC130006637:ATAC-STARR-seq lymphoblastoid active region 5433 [Gene]
  • LOC130006641:ATAC-STARR-seq lymphoblastoid active region 5436 [Gene]
  • LOC130006642:ATAC-STARR-seq lymphoblastoid active region 5437 [Gene]
  • LOC130006643:ATAC-STARR-seq lymphoblastoid active region 5438 [Gene]
  • LOC130006644:ATAC-STARR-seq lymphoblastoid active region 5439 [Gene]
  • LOC130006645:ATAC-STARR-seq lymphoblastoid active region 5440 [Gene]
  • LOC130006646:ATAC-STARR-seq lymphoblastoid active region 5441 [Gene]
  • LOC130006647:ATAC-STARR-seq lymphoblastoid active region 5442 [Gene]
  • LOC130006648:ATAC-STARR-seq lymphoblastoid active region 5443 [Gene]
  • LOC130006649:ATAC-STARR-seq lymphoblastoid active region 5444 [Gene]
  • LOC130006650:ATAC-STARR-seq lymphoblastoid active region 5445 [Gene]
  • LOC130006651:ATAC-STARR-seq lymphoblastoid active region 5446 [Gene]
  • LOC130006653:ATAC-STARR-seq lymphoblastoid active region 5447 [Gene]
  • LOC130006657:ATAC-STARR-seq lymphoblastoid active region 5448 [Gene]
  • LOC130006660:ATAC-STARR-seq lymphoblastoid active region 5450 [Gene]
  • LOC130006661:ATAC-STARR-seq lymphoblastoid active region 5451 [Gene]
  • LOC130006662:ATAC-STARR-seq lymphoblastoid active region 5452 [Gene]
  • LOC130006663:ATAC-STARR-seq lymphoblastoid active region 5453 [Gene]
  • LOC130006664:ATAC-STARR-seq lymphoblastoid active region 5454 [Gene]
  • LOC130006665:ATAC-STARR-seq lymphoblastoid active region 5455 [Gene]
  • LOC130006666:ATAC-STARR-seq lymphoblastoid active region 5456 [Gene]
  • LOC130006667:ATAC-STARR-seq lymphoblastoid active region 5457 [Gene]
  • LOC130006668:ATAC-STARR-seq lymphoblastoid active region 5458 [Gene]
  • LOC130006670:ATAC-STARR-seq lymphoblastoid active region 5459 [Gene]
  • LOC130006671:ATAC-STARR-seq lymphoblastoid active region 5460 [Gene]
  • LOC130006672:ATAC-STARR-seq lymphoblastoid active region 5461 [Gene]
  • LOC130006673:ATAC-STARR-seq lymphoblastoid active region 5462 [Gene]
  • LOC130006674:ATAC-STARR-seq lymphoblastoid active region 5463 [Gene]
  • LOC130006676:ATAC-STARR-seq lymphoblastoid active region 5464 [Gene]
  • LOC130006677:ATAC-STARR-seq lymphoblastoid active region 5465 [Gene]
  • LOC130006678:ATAC-STARR-seq lymphoblastoid active region 5466 [Gene]
  • LOC130006679:ATAC-STARR-seq lymphoblastoid active region 5467 [Gene]
  • LOC130006680:ATAC-STARR-seq lymphoblastoid active region 5468 [Gene]
  • LOC130006682:ATAC-STARR-seq lymphoblastoid active region 5471 [Gene]
  • LOC130006685:ATAC-STARR-seq lymphoblastoid active region 5472 [Gene]
  • LOC130006687:ATAC-STARR-seq lymphoblastoid active region 5475 [Gene]
  • LOC130006691:ATAC-STARR-seq lymphoblastoid active region 5476 [Gene]
  • LOC130006692:ATAC-STARR-seq lymphoblastoid active region 5477 [Gene]
  • LOC130006693:ATAC-STARR-seq lymphoblastoid active region 5478 [Gene]
  • LOC130006694:ATAC-STARR-seq lymphoblastoid active region 5479 [Gene]
  • LOC130006695:ATAC-STARR-seq lymphoblastoid active region 5480 [Gene]
  • LOC130006696:ATAC-STARR-seq lymphoblastoid active region 5481 [Gene]
  • LOC130006697:ATAC-STARR-seq lymphoblastoid active region 5482 [Gene]
  • LOC130006699:ATAC-STARR-seq lymphoblastoid active region 5483 [Gene]
  • LOC130006700:ATAC-STARR-seq lymphoblastoid active region 5484 [Gene]
  • LOC130006701:ATAC-STARR-seq lymphoblastoid active region 5485 [Gene]
  • LOC130006702:ATAC-STARR-seq lymphoblastoid active region 5486 [Gene]
  • LOC130006703:ATAC-STARR-seq lymphoblastoid active region 5487 [Gene]
  • LOC130006705:ATAC-STARR-seq lymphoblastoid active region 5488 [Gene]
  • LOC130006709:ATAC-STARR-seq lymphoblastoid active region 5489 [Gene]
  • LOC130006710:ATAC-STARR-seq lymphoblastoid active region 5490 [Gene]
  • LOC130006711:ATAC-STARR-seq lymphoblastoid active region 5491 [Gene]
  • LOC130006712:ATAC-STARR-seq lymphoblastoid active region 5492 [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]
  • LOC130006638:ATAC-STARR-seq lymphoblastoid silent region 3858 [Gene]
  • LOC130006639:ATAC-STARR-seq lymphoblastoid silent region 3859 [Gene]
  • LOC130006640:ATAC-STARR-seq lymphoblastoid silent region 3860 [Gene]
  • LOC130006652:ATAC-STARR-seq lymphoblastoid silent region 3861 [Gene]
  • LOC130006654:ATAC-STARR-seq lymphoblastoid silent region 3862 [Gene]
  • LOC130006655:ATAC-STARR-seq lymphoblastoid silent region 3863 [Gene]
  • LOC130006656:ATAC-STARR-seq lymphoblastoid silent region 3864 [Gene]
  • LOC130006658:ATAC-STARR-seq lymphoblastoid silent region 3865 [Gene]
  • LOC130006659:ATAC-STARR-seq lymphoblastoid silent region 3866 [Gene]
  • LOC130006669:ATAC-STARR-seq lymphoblastoid silent region 3867 [Gene]
  • LOC130006675:ATAC-STARR-seq lymphoblastoid silent region 3868 [Gene]
  • LOC130006681:ATAC-STARR-seq lymphoblastoid silent region 3869 [Gene]
  • LOC130006683:ATAC-STARR-seq lymphoblastoid silent region 3870 [Gene]
  • LOC130006684:ATAC-STARR-seq lymphoblastoid silent region 3871 [Gene]
  • LOC130006686:ATAC-STARR-seq lymphoblastoid silent region 3872 [Gene]
  • LOC130006688:ATAC-STARR-seq lymphoblastoid silent region 3873 [Gene]
  • LOC130006689:ATAC-STARR-seq lymphoblastoid silent region 3874 [Gene]
  • LOC130006690:ATAC-STARR-seq lymphoblastoid silent region 3875 [Gene]
  • LOC130006698:ATAC-STARR-seq lymphoblastoid silent region 3877 [Gene]
  • LOC130006704:ATAC-STARR-seq lymphoblastoid silent region 3878 [Gene]
  • LOC130006706:ATAC-STARR-seq lymphoblastoid silent region 3879 [Gene]
  • LOC130006707:ATAC-STARR-seq lymphoblastoid silent region 3880 [Gene]
  • LOC130006708:ATAC-STARR-seq lymphoblastoid silent region 3881 [Gene]
  • ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
  • LOC126861311:BRD4-independent group 4 enhancer GRCh37_chr11:100199299-100200498 [Gene]
  • LOC126861313:BRD4-independent group 4 enhancer GRCh37_chr11:101834504-101835703 [Gene]
  • LOC126861315:BRD4-independent group 4 enhancer GRCh37_chr11:102187662-102188861 [Gene]
  • LOC126861316:BRD4-independent group 4 enhancer GRCh37_chr11:102594892-102596091 [Gene]
  • LOC126861318:BRD4-independent group 4 enhancer GRCh37_chr11:102825894-102827093 [Gene]
  • LOC126861320:BRD4-independent group 4 enhancer GRCh37_chr11:104208910-104210109 [Gene]
  • LOC126861326:BRD4-independent group 4 enhancer GRCh37_chr11:106332263-106333462 [Gene]
  • LOC126861328:BRD4-independent group 4 enhancer GRCh37_chr11:107232171-107233370 [Gene]
  • LOC126861302:BRD4-independent group 4 enhancer GRCh37_chr11:95092304-95093503 [Gene]
  • LOC126861305:BRD4-independent group 4 enhancer GRCh37_chr11:96057720-96058919 [Gene]
  • LOC126861321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:104322360-104323559 [Gene]
  • LOC126861324:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:105623830-105625029 [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]
  • LOC116225301:CRISPRi-validated cis-regulatory element chr11.4868 [Gene]
  • CWC15:CWC15 spliceosome associated protein homolog [Gene - HGNC]
  • CWF19L2:CWF19 like cell cycle control factor 2 [Gene - HGNC]
  • DDX10:DEAD-box helicase 10 [Gene - OMIM - HGNC]
  • DDI1:DNA damage inducible 1 homolog 1 [Gene - HGNC]
  • ELMOD1:ELMO domain containing 1 [Gene - OMIM - HGNC]
  • FAT3:FAT atypical cadherin 3 [Gene - OMIM - HGNC]
  • GPR83:G protein-coupled receptor 83 [Gene - OMIM - 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]
  • LOC126861314:MED14-independent group 3 enhancer GRCh37_chr11:101881654-101882853 [Gene]
  • LOC126861317:MED14-independent group 3 enhancer GRCh37_chr11:102623204-102624403 [Gene]
  • LOC126861322:MED14-independent group 3 enhancer GRCh37_chr11:104839101-104840300 [Gene]
  • LOC126861327:MED14-independent group 3 enhancer GRCh37_chr11:106448190-106449389 [Gene]
  • LOC126861329:MED14-independent group 3 enhancer GRCh37_chr11:107267561-107268760 [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]
  • LOC126861310:MED14-independent group 3 enhancer GRCh37_chr11:99195590-99196789 [Gene]
  • MMP20-AS1:MMP20 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC129390335:MPRA-validated peak1422 silencer [Gene]
  • LOC129390336:MPRA-validated peak1423 silencer [Gene]
  • LOC129390337:MPRA-validated peak1424 silencer [Gene]
  • LOC129390338:MPRA-validated peak1425 silencer [Gene]
  • LOC129390339:MPRA-validated peak1427 silencer [Gene]
  • LOC129390340:MPRA-validated peak1429 silencer [Gene]
  • LOC129390341:MPRA-validated peak1430 silencer [Gene]
  • LOC129390342:MPRA-validated peak1431 silencer [Gene]
  • LOC129390343:MPRA-validated peak1433 silencer [Gene]
  • LOC129390344:MPRA-validated peak1434 silencer [Gene]
  • LOC129390345:MPRA-validated peak1435 silencer [Gene]
  • LOC129390346:MPRA-validated peak1437 silencer [Gene]
  • LOC129390347:MPRA-validated peak1438 silencer [Gene]
  • LOC129390348:MPRA-validated peak1439 silencer [Gene]
  • LOC129390349:MPRA-validated peak1441 silencer [Gene]
  • LOC129390350:MPRA-validated peak1445 silencer [Gene]
  • LOC129390351:MPRA-validated peak1447 silencer [Gene]
  • LOC129390352:MPRA-validated peak1449 silencer [Gene]
  • LOC129390353:MPRA-validated peak1450 silencer [Gene]
  • LOC129390354:MPRA-validated peak1451 silencer [Gene]
  • LOC129390355:MPRA-validated peak1452 silencer [Gene]
  • LOC129390356:MPRA-validated peak1453 silencer [Gene]
  • LOC129390357:MPRA-validated peak1460 silencer [Gene]
  • MRE11:MRE11 homolog, double strand break repair nuclease [Gene - OMIM - HGNC]
  • MSANTD4:Myb/SANT DNA binding domain containing 4 with coiled-coils [Gene - HGNC]
  • LOC132089885:Neanderthal introgressed variant-containing enhancer experimental_18463 [Gene]
  • LOC132089886:Neanderthal introgressed variant-containing enhancer experimental_18498 [Gene]
  • LOC132089887:Neanderthal introgressed variant-containing enhancer experimental_18559 [Gene]
  • LOC132089888:Neanderthal introgressed variant-containing enhancer experimental_18652 [Gene]
  • LOC132090840:Neanderthal introgressed variant-containing enhancer experimental_18668 [Gene]
  • LOC132089889:Neanderthal introgressed variant-containing enhancer experimental_18672 [Gene]
  • LOC132089890:Neanderthal introgressed variant-containing enhancer experimental_18676 [Gene]
  • LOC132089891:Neanderthal introgressed variant-containing enhancer experimental_18677 [Gene]
  • LOC132089892:Neanderthal introgressed variant-containing enhancer experimental_18685 [Gene]
  • LOC132089945:Neanderthal introgressed variant-containing enhancer experimental_21850 [Gene]
  • LOC132089946:Neanderthal introgressed variant-containing enhancer experimental_21952 [Gene]
  • LOC132089947:Neanderthal introgressed variant-containing enhancer experimental_22004 [Gene]
  • LOC132090839:Neanderthal introgressed variant-containing enhancer experimental_22054 [Gene]
  • LOC132089948:Neanderthal introgressed variant-containing enhancer experimental_22152 [Gene]
  • LOC132089949:Neanderthal introgressed variant-containing enhancer experimental_22162 [Gene]
  • LOC132089950:Neanderthal introgressed variant-containing enhancer experimental_22201 [Gene]
  • LOC132089951:Neanderthal introgressed variant-containing enhancer experimental_22214 [Gene]
  • LOC132089952:Neanderthal introgressed variant-containing enhancer experimental_22279 [Gene]
  • LOC132089953:Neanderthal introgressed variant-containing enhancer experimental_22387 [Gene]
  • LOC132089954:Neanderthal introgressed variant-containing enhancer experimental_22407 [Gene]
  • LOC132089955:Neanderthal introgressed variant-containing enhancer experimental_22479 [Gene]
  • LOC132089956:Neanderthal introgressed variant-containing enhancer experimental_22485 [Gene]
  • LOC126861312:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:100620727-100621926 [Gene]
  • LOC126861319:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:103496216-103497415 [Gene]
  • LOC126861323:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:105167667-105168866 [Gene]
  • LOC126861325:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:106265787-106266986 [Gene]
  • LOC126861330:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:107710907-107712106 [Gene]
  • LOC126861331:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:108487156-108488355 [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]
  • PDGFDDN:PDGFD downstream neighbor [Gene - HGNC]
  • PGR-AS1:PGR antisense RNA 1 [Gene - HGNC]
  • PIWIL4-AS1:PIWIL4 antisense RNA 1 [Gene - HGNC]
  • RAB39A:RAB39A, member RAS oncogene family [Gene - OMIM - HGNC]
  • ARHGAP42:Rho GTPase activating protein 42 [Gene - OMIM - HGNC]
  • LOC121392937:Sharpr-MPRA regulatory region 11455 [Gene]
  • LOC124625826:Sharpr-MPRA regulatory region 11910 [Gene]
  • LOC112136097:Sharpr-MPRA regulatory region 12150 [Gene]
  • LOC111982889:Sharpr-MPRA regulatory region 13184 [Gene]
  • LOC124625832:Sharpr-MPRA regulatory region 13200 [Gene]
  • LOC124625827:Sharpr-MPRA regulatory region 13718 [Gene]
  • LOC124544583:Sharpr-MPRA regulatory region 14517 [Gene]
  • LOC121392934:Sharpr-MPRA regulatory region 15019 [Gene]
  • LOC124544579:Sharpr-MPRA regulatory region 15181 [Gene]
  • LOC124625824:Sharpr-MPRA regulatory region 1581 [Gene]
  • LOC124625831:Sharpr-MPRA regulatory region 1938 [Gene]
  • LOC124625821:Sharpr-MPRA regulatory region 282 [Gene]
  • LOC124625833:Sharpr-MPRA regulatory region 3267 [Gene]
  • LOC112136096:Sharpr-MPRA regulatory region 4215 [Gene]
  • LOC121392938:Sharpr-MPRA regulatory region 4319 [Gene]
  • LOC124625828:Sharpr-MPRA regulatory region 5256 [Gene]
  • LOC124625822:Sharpr-MPRA regulatory region 5330 [Gene]
  • LOC112136095:Sharpr-MPRA regulatory region 5970 [Gene]
  • LOC124625823:Sharpr-MPRA regulatory region 6339 [Gene]
  • LOC124544580:Sharpr-MPRA regulatory region 7264 [Gene]
  • LOC124625830:Sharpr-MPRA regulatory region 7280 [Gene]
  • LOC121392935:Sharpr-MPRA regulatory region 7470 [Gene]
  • LOC124544582:Sharpr-MPRA regulatory region 7617 [Gene]
  • LOC121832819:Sharpr-MPRA regulatory region 8516 [Gene]
  • LOC121392936:Sharpr-MPRA regulatory region 9487 [Gene]
  • LOC124544581:Sharpr-MPRA regulatory region 9498 [Gene]
  • LOC124625825:Sharpr-MPRA regulatory region 9794 [Gene]
  • TAF1D:TATA-box binding protein associated factor, RNA polymerase I subunit D [Gene - OMIM - HGNC]
  • TMEM123-DT:TMEM123 divergent transcript [Gene - HGNC]
  • VSTM5:V-set and transmembrane domain containing 5 [Gene - HGNC]
  • LOC114827859:VISTA enhancer hs2531 [Gene]
  • YAP1:Yes1 associated transcriptional regulator [Gene - OMIM - HGNC]
  • ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
  • ALKBH8:alkB homolog 8, tRNA methyltransferase [Gene - OMIM - HGNC]
  • AASDHPPT:aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase [Gene - OMIM - HGNC]
  • AMOTL1:angiomotin like 1 [Gene - OMIM - HGNC]
  • ANGPTL5:angiopoietin like 5 [Gene - OMIM - HGNC]
  • ANKRD49:ankyrin repeat domain 49 [Gene - OMIM - HGNC]
  • BIRC2:baculoviral IAP repeat containing 2 [Gene - OMIM - HGNC]
  • BIRC3:baculoviral IAP repeat containing 3 [Gene - OMIM - HGNC]
  • CASP12:caspase 12 (gene/pseudogene) [Gene - OMIM - HGNC]
  • CASP1:caspase 1 [Gene - OMIM - HGNC]
  • CASP4:caspase 4 [Gene - OMIM - HGNC]
  • CASP5:caspase 5 [Gene - OMIM - HGNC]
  • CARD16:caspase recruitment domain family member 16 [Gene - OMIM - HGNC]
  • CARD17:caspase recruitment domain family member 17 [Gene - OMIM - HGNC]
  • CARD18:caspase recruitment domain family member 18 [Gene - OMIM - HGNC]
  • CEP126:centrosomal protein 126 [Gene - OMIM - HGNC]
  • CEP295:centrosomal protein 295 [Gene - OMIM - HGNC]
  • CEP57:centrosomal protein 57 [Gene - OMIM - HGNC]
  • C11orf54:chromosome 11 open reading frame 54 [Gene - OMIM - HGNC]
  • C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]
  • C11orf87:chromosome 11 open reading frame 87 [Gene - HGNC]
  • C11orf97:chromosome 11 open reading frame 97 [Gene - HGNC]
  • CFAP300:cilia and flagella associated protein 300 [Gene - OMIM - HGNC]
  • CCDC82:coiled-coil domain containing 82 [Gene - OMIM - HGNC]
  • CNTN5:contactin 5 [Gene - OMIM - HGNC]
  • CUL5:cullin 5 [Gene - OMIM - HGNC]
  • DCUN1D5:defective in cullin neddylation 1 domain containing 5 [Gene - OMIM - HGNC]
  • DEUP1:deuterosome assembly protein 1 [Gene - OMIM - HGNC]
  • DYNC2H1:dynein cytoplasmic 2 heavy chain 1 [Gene - OMIM - HGNC]
  • ENDOD1:endonuclease domain containing 1 [Gene - OMIM - HGNC]
  • EXPH5:exophilin 5 [Gene - OMIM - HGNC]
  • FAM76B:family with sequence similarity 76 member B [Gene - HGNC]
  • FUT4:fucosyltransferase 4 [Gene - OMIM - HGNC]
  • GRIA4:glutamate ionotropic receptor AMPA type subunit 4 [Gene - OMIM - HGNC]
  • GUCY1A2:guanylate cyclase 1 soluble subunit alpha 2 [Gene - OMIM - HGNC]
  • HEPHL1:hephaestin like 1 [Gene - OMIM - HGNC]
  • LOC106865368:inversion(11)(p15q22) DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 recombination region [Gene]
  • KBTBD3:kelch repeat and BTB domain containing 3 [Gene - HGNC]
  • LNCRNA-IUR:lncRNA imatinib upregulated [Gene - HGNC]
  • LINC02552:long intergenic non-protein coding RNA 2552 [Gene - HGNC]
  • LINC02553:long intergenic non-protein coding RNA 2553 [Gene - HGNC]
  • LINC02700:long intergenic non-protein coding RNA 2700 [Gene - HGNC]
  • LINC02713:long intergenic non-protein coding RNA 2713 [Gene - HGNC]
  • LINC02719:long intergenic non-protein coding RNA 2719 [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]
  • KDM4D:lysine demethylase 4D [Gene - OMIM - HGNC]
  • KDM4E:lysine demethylase 4E [Gene - OMIM - HGNC]
  • KDM4F:lysine demethylase 4F [Gene - HGNC]
  • MAML2:mastermind like transcriptional coactivator 2 [Gene - OMIM - HGNC]
  • MMP10:matrix metallopeptidase 10 [Gene - OMIM - HGNC]
  • MMP12:matrix metallopeptidase 12 [Gene - OMIM - HGNC]
  • MMP13:matrix metallopeptidase 13 [Gene - OMIM - HGNC]
  • MMP1:matrix metallopeptidase 1 [Gene - OMIM - HGNC]
  • MMP20:matrix metallopeptidase 20 [Gene - OMIM - HGNC]
  • MMP27:matrix metallopeptidase 27 [Gene - OMIM - HGNC]
  • MMP3:matrix metallopeptidase 3 [Gene - OMIM - HGNC]
  • MMP7:matrix metallopeptidase 7 [Gene - OMIM - HGNC]
  • MMP8:matrix metallopeptidase 8 [Gene - OMIM - HGNC]
  • MED17:mediator complex subunit 17 [Gene - OMIM - HGNC]
  • LOC128772354:melanoma risk locus-associated MPRA allelic enhancer 11:108047982 [Gene]
  • LOC128772355:melanoma risk locus-associated MPRA allelic enhancer 11:108089151 [Gene]
  • LOC128772356:melanoma risk locus-associated MPRA allelic enhancer 11:108140516 [Gene]
  • LOC128772357:melanoma risk locus-associated MPRA allelic enhancer 11:108273376 [Gene]
  • LOC128772358:melanoma risk locus-associated MPRA allelic enhancer 11:108294773 [Gene]
  • LOC128772359:melanoma risk locus-associated MPRA allelic enhancer 11:108301322 [Gene]
  • LOC128772360:melanoma risk locus-associated MPRA allelic enhancer 11:108309656 [Gene]
  • LOC128772361:melanoma risk locus-associated MPRA allelic enhancer 11:108323261 [Gene]
  • LOC128772362:melanoma risk locus-associated MPRA allelic enhancer 11:108333620 [Gene]
  • LOC128772363:melanoma risk locus-associated MPRA allelic enhancer 11:108344264 [Gene]
  • MTNR1B:melatonin receptor 1B [Gene - OMIM - HGNC]
  • MIR1260B:microRNA 1260b [Gene - OMIM - HGNC]
  • MIR1304:microRNA 1304 [Gene - HGNC]
  • MIR3920:microRNA 3920 [Gene - HGNC]
  • MIR4693:microRNA 4693 [Gene - HGNC]
  • MIR548L:microRNA 548l [Gene - HGNC]
  • MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]
  • NPAT:nuclear protein, coactivator of histone transcription [Gene - OMIM - HGNC]
  • PANX1:pannexin 1 [Gene - OMIM - HGNC]
  • PIWIL4:piwi like RNA-mediated gene silencing 4 [Gene - OMIM - HGNC]
  • PDGFD:platelet derived growth factor D [Gene - OMIM - HGNC]
  • PGR:progesterone receptor [Gene - OMIM - HGNC]
  • POGLUT3:protein O-glucosyltransferase 3 [Gene - OMIM - HGNC]
  • SLN:sarcolipin [Gene - OMIM - HGNC]
  • SRSF8:serine and arginine rich splicing factor 8 [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]
  • SNORD13I:small nucleolar RNA, C/D box 13I [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]
  • SNORA8:small nucleolar RNA, H/ACA box 8 [Gene - HGNC]
  • SLC35F2:solute carrier family 35 member F2 [Gene - OMIM - HGNC]
  • SLC36A4:solute carrier family 36 member 4 [Gene - OMIM - HGNC]
  • TRPC6:transient receptor potential cation channel subfamily C member 6 [Gene - OMIM - HGNC]
  • TMEM123:transmembrane protein 123 [Gene - OMIM - HGNC]
  • TMEM133:transmembrane protein 133 [Gene - HGNC]
  • LOC100129203:uncharacterized LOC100129203 [Gene]
  • LOC101928535:uncharacterized LOC101928535 [Gene]
  • LOC102723838:uncharacterized LOC102723838 [Gene]
Variant type:
copy number loss
Cytogenetic location:
11q14.3-22.3
Genomic location:
Preferred name:
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1
HGVS:
  • NC_000011.10:g.(?_91086659)_(109595582_?)del
  • NC_000011.8:g.(?_90459475)_(108971518_?)del
  • NC_000011.9:g.(?_90819827)_(109466308_?)del
Links:
dbVar: nssv1494949; dbVar: nsv869225
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
SCV000178297ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 3, 2012) 		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 1, SCV000178297.4

#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