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GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000053654.7

Allele description [Variation Report for GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3]

GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3

Genes:
  • LOC108004544:8q13.2-q13.3 distal HERV-mediated recombination region [Gene]
  • LOC108004543:8q13.2-q13.3 proximal HERV-mediated recombination region [Gene]
  • ARFGEF1:ADP ribosylation factor guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • ARFGEF1-DT:ARFGEF1 divergent transcript [Gene - HGNC]
  • LOC130000494:ATAC-STARR-seq lymphoblastoid active region 27448 [Gene]
  • LOC130000495:ATAC-STARR-seq lymphoblastoid active region 27449 [Gene]
  • LOC130000497:ATAC-STARR-seq lymphoblastoid active region 27450 [Gene]
  • LOC130000498:ATAC-STARR-seq lymphoblastoid active region 27451 [Gene]
  • LOC130000500:ATAC-STARR-seq lymphoblastoid active region 27452 [Gene]
  • LOC130000501:ATAC-STARR-seq lymphoblastoid active region 27453 [Gene]
  • LOC130000502:ATAC-STARR-seq lymphoblastoid active region 27454 [Gene]
  • LOC130000504:ATAC-STARR-seq lymphoblastoid active region 27455 [Gene]
  • LOC130000505:ATAC-STARR-seq lymphoblastoid active region 27456 [Gene]
  • LOC130000506:ATAC-STARR-seq lymphoblastoid active region 27457 [Gene]
  • LOC130000509:ATAC-STARR-seq lymphoblastoid active region 27461 [Gene]
  • LOC130000510:ATAC-STARR-seq lymphoblastoid active region 27462 [Gene]
  • LOC130000512:ATAC-STARR-seq lymphoblastoid active region 27463 [Gene]
  • LOC130000513:ATAC-STARR-seq lymphoblastoid active region 27464 [Gene]
  • LOC130000514:ATAC-STARR-seq lymphoblastoid active region 27465 [Gene]
  • LOC130000515:ATAC-STARR-seq lymphoblastoid active region 27466 [Gene]
  • LOC130000516:ATAC-STARR-seq lymphoblastoid active region 27467 [Gene]
  • LOC130000517:ATAC-STARR-seq lymphoblastoid active region 27468 [Gene]
  • LOC130000518:ATAC-STARR-seq lymphoblastoid active region 27469 [Gene]
  • LOC130000519:ATAC-STARR-seq lymphoblastoid active region 27470 [Gene]
  • LOC130000521:ATAC-STARR-seq lymphoblastoid active region 27471 [Gene]
  • LOC130000522:ATAC-STARR-seq lymphoblastoid active region 27472 [Gene]
  • LOC130000523:ATAC-STARR-seq lymphoblastoid active region 27476 [Gene]
  • LOC130000524:ATAC-STARR-seq lymphoblastoid active region 27477 [Gene]
  • LOC130000525:ATAC-STARR-seq lymphoblastoid active region 27478 [Gene]
  • LOC130000527:ATAC-STARR-seq lymphoblastoid active region 27479 [Gene]
  • LOC130000528:ATAC-STARR-seq lymphoblastoid active region 27480 [Gene]
  • LOC130000530:ATAC-STARR-seq lymphoblastoid active region 27481 [Gene]
  • LOC130000531:ATAC-STARR-seq lymphoblastoid active region 27482 [Gene]
  • LOC130000533:ATAC-STARR-seq lymphoblastoid active region 27483 [Gene]
  • LOC130000534:ATAC-STARR-seq lymphoblastoid active region 27484 [Gene]
  • LOC130000535:ATAC-STARR-seq lymphoblastoid active region 27485 [Gene]
  • LOC130000536:ATAC-STARR-seq lymphoblastoid active region 27486 [Gene]
  • LOC130000537:ATAC-STARR-seq lymphoblastoid active region 27487 [Gene]
  • LOC130000538:ATAC-STARR-seq lymphoblastoid active region 27488 [Gene]
  • LOC130000539:ATAC-STARR-seq lymphoblastoid active region 27489 [Gene]
  • LOC130000540:ATAC-STARR-seq lymphoblastoid active region 27490 [Gene]
  • LOC130000541:ATAC-STARR-seq lymphoblastoid active region 27491 [Gene]
  • LOC130000543:ATAC-STARR-seq lymphoblastoid active region 27492 [Gene]
  • LOC130000545:ATAC-STARR-seq lymphoblastoid active region 27493 [Gene]
  • LOC130000546:ATAC-STARR-seq lymphoblastoid active region 27494 [Gene]
  • LOC130000547:ATAC-STARR-seq lymphoblastoid active region 27495 [Gene]
  • LOC130000549:ATAC-STARR-seq lymphoblastoid active region 27496 [Gene]
  • LOC130000550:ATAC-STARR-seq lymphoblastoid active region 27497 [Gene]
  • LOC130000551:ATAC-STARR-seq lymphoblastoid active region 27498 [Gene]
  • LOC130000552:ATAC-STARR-seq lymphoblastoid active region 27499 [Gene]
  • LOC130000555:ATAC-STARR-seq lymphoblastoid active region 27500 [Gene]
  • LOC130000556:ATAC-STARR-seq lymphoblastoid active region 27501 [Gene]
  • LOC130000558:ATAC-STARR-seq lymphoblastoid active region 27502 [Gene]
  • LOC130000559:ATAC-STARR-seq lymphoblastoid active region 27503 [Gene]
  • LOC130000561:ATAC-STARR-seq lymphoblastoid active region 27504 [Gene]
  • LOC130000562:ATAC-STARR-seq lymphoblastoid active region 27505 [Gene]
  • LOC130000563:ATAC-STARR-seq lymphoblastoid active region 27506 [Gene]
  • LOC130000567:ATAC-STARR-seq lymphoblastoid active region 27507 [Gene]
  • LOC130000574:ATAC-STARR-seq lymphoblastoid active region 27508 [Gene]
  • LOC130000575:ATAC-STARR-seq lymphoblastoid active region 27509 [Gene]
  • LOC130000576:ATAC-STARR-seq lymphoblastoid active region 27510 [Gene]
  • LOC130000577:ATAC-STARR-seq lymphoblastoid active region 27511 [Gene]
  • LOC130000578:ATAC-STARR-seq lymphoblastoid active region 27512 [Gene]
  • LOC130000579:ATAC-STARR-seq lymphoblastoid active region 27513 [Gene]
  • LOC130000580:ATAC-STARR-seq lymphoblastoid active region 27514 [Gene]
  • LOC130000581:ATAC-STARR-seq lymphoblastoid active region 27515 [Gene]
  • LOC130000583:ATAC-STARR-seq lymphoblastoid active region 27517 [Gene]
  • LOC130000584:ATAC-STARR-seq lymphoblastoid active region 27519 [Gene]
  • LOC130000585:ATAC-STARR-seq lymphoblastoid active region 27520 [Gene]
  • LOC130000586:ATAC-STARR-seq lymphoblastoid active region 27521 [Gene]
  • LOC130000589:ATAC-STARR-seq lymphoblastoid active region 27522 [Gene]
  • LOC130000590:ATAC-STARR-seq lymphoblastoid active region 27523 [Gene]
  • LOC130000592:ATAC-STARR-seq lymphoblastoid active region 27524 [Gene]
  • LOC130000593:ATAC-STARR-seq lymphoblastoid active region 27525 [Gene]
  • LOC130000594:ATAC-STARR-seq lymphoblastoid active region 27526 [Gene]
  • LOC130000595:ATAC-STARR-seq lymphoblastoid active region 27527 [Gene]
  • LOC130000596:ATAC-STARR-seq lymphoblastoid active region 27528 [Gene]
  • LOC130000604:ATAC-STARR-seq lymphoblastoid active region 27532 [Gene]
  • LOC130000610:ATAC-STARR-seq lymphoblastoid active region 27533 [Gene]
  • LOC130000611:ATAC-STARR-seq lymphoblastoid active region 27534 [Gene]
  • LOC130000612:ATAC-STARR-seq lymphoblastoid active region 27535 [Gene]
  • LOC130000615:ATAC-STARR-seq lymphoblastoid active region 27538 [Gene]
  • LOC130000616:ATAC-STARR-seq lymphoblastoid active region 27539 [Gene]
  • LOC130000617:ATAC-STARR-seq lymphoblastoid active region 27540 [Gene]
  • LOC130000619:ATAC-STARR-seq lymphoblastoid active region 27541 [Gene]
  • LOC130000622:ATAC-STARR-seq lymphoblastoid active region 27542 [Gene]
  • LOC130000625:ATAC-STARR-seq lymphoblastoid active region 27543 [Gene]
  • LOC130000626:ATAC-STARR-seq lymphoblastoid active region 27544 [Gene]
  • LOC130000631:ATAC-STARR-seq lymphoblastoid active region 27545 [Gene]
  • LOC130000633:ATAC-STARR-seq lymphoblastoid active region 27547 [Gene]
  • LOC130000634:ATAC-STARR-seq lymphoblastoid active region 27548 [Gene]
  • LOC130000635:ATAC-STARR-seq lymphoblastoid active region 27549 [Gene]
  • LOC130000636:ATAC-STARR-seq lymphoblastoid active region 27550 [Gene]
  • LOC130000640:ATAC-STARR-seq lymphoblastoid active region 27551 [Gene]
  • LOC130000644:ATAC-STARR-seq lymphoblastoid active region 27552 [Gene]
  • LOC130000645:ATAC-STARR-seq lymphoblastoid active region 27553 [Gene]
  • LOC130000647:ATAC-STARR-seq lymphoblastoid active region 27555 [Gene]
  • LOC130000648:ATAC-STARR-seq lymphoblastoid active region 27556 [Gene]
  • LOC130000649:ATAC-STARR-seq lymphoblastoid active region 27557 [Gene]
  • LOC130000650:ATAC-STARR-seq lymphoblastoid active region 27558 [Gene]
  • LOC130000651:ATAC-STARR-seq lymphoblastoid active region 27559 [Gene]
  • LOC130000652:ATAC-STARR-seq lymphoblastoid active region 27560 [Gene]
  • LOC130000653:ATAC-STARR-seq lymphoblastoid active region 27561 [Gene]
  • LOC130000654:ATAC-STARR-seq lymphoblastoid active region 27562 [Gene]
  • LOC130000658:ATAC-STARR-seq lymphoblastoid active region 27563 [Gene]
  • LOC130000659:ATAC-STARR-seq lymphoblastoid active region 27564 [Gene]
  • LOC130000660:ATAC-STARR-seq lymphoblastoid active region 27565 [Gene]
  • LOC130000661:ATAC-STARR-seq lymphoblastoid active region 27566 [Gene]
  • LOC130000662:ATAC-STARR-seq lymphoblastoid active region 27567 [Gene]
  • LOC130000663:ATAC-STARR-seq lymphoblastoid active region 27568 [Gene]
  • LOC130000666:ATAC-STARR-seq lymphoblastoid active region 27570 [Gene]
  • LOC130000667:ATAC-STARR-seq lymphoblastoid active region 27571 [Gene]
  • LOC130000668:ATAC-STARR-seq lymphoblastoid active region 27572 [Gene]
  • LOC130000669:ATAC-STARR-seq lymphoblastoid active region 27573 [Gene]
  • LOC130000670:ATAC-STARR-seq lymphoblastoid active region 27574 [Gene]
  • LOC130000671:ATAC-STARR-seq lymphoblastoid active region 27575 [Gene]
  • LOC130000672:ATAC-STARR-seq lymphoblastoid active region 27576 [Gene]
  • LOC130000673:ATAC-STARR-seq lymphoblastoid active region 27577 [Gene]
  • LOC130000675:ATAC-STARR-seq lymphoblastoid active region 27578 [Gene]
  • LOC130000676:ATAC-STARR-seq lymphoblastoid active region 27579 [Gene]
  • LOC130000678:ATAC-STARR-seq lymphoblastoid active region 27580 [Gene]
  • LOC130000679:ATAC-STARR-seq lymphoblastoid active region 27581 [Gene]
  • LOC130000680:ATAC-STARR-seq lymphoblastoid active region 27582 [Gene]
  • LOC130000681:ATAC-STARR-seq lymphoblastoid active region 27583 [Gene]
  • LOC130000682:ATAC-STARR-seq lymphoblastoid active region 27586 [Gene]
  • LOC130000490:ATAC-STARR-seq lymphoblastoid silent region 19235 [Gene]
  • LOC130000491:ATAC-STARR-seq lymphoblastoid silent region 19236 [Gene]
  • LOC130000492:ATAC-STARR-seq lymphoblastoid silent region 19237 [Gene]
  • LOC130000493:ATAC-STARR-seq lymphoblastoid silent region 19238 [Gene]
  • LOC130000496:ATAC-STARR-seq lymphoblastoid silent region 19240 [Gene]
  • LOC130000499:ATAC-STARR-seq lymphoblastoid silent region 19241 [Gene]
  • LOC130000503:ATAC-STARR-seq lymphoblastoid silent region 19242 [Gene]
  • LOC130000507:ATAC-STARR-seq lymphoblastoid silent region 19243 [Gene]
  • LOC130000508:ATAC-STARR-seq lymphoblastoid silent region 19244 [Gene]
  • LOC130000511:ATAC-STARR-seq lymphoblastoid silent region 19245 [Gene]
  • LOC130000520:ATAC-STARR-seq lymphoblastoid silent region 19250 [Gene]
  • LOC130000526:ATAC-STARR-seq lymphoblastoid silent region 19252 [Gene]
  • LOC130000529:ATAC-STARR-seq lymphoblastoid silent region 19253 [Gene]
  • LOC130000532:ATAC-STARR-seq lymphoblastoid silent region 19254 [Gene]
  • LOC130000542:ATAC-STARR-seq lymphoblastoid silent region 19255 [Gene]
  • LOC130000544:ATAC-STARR-seq lymphoblastoid silent region 19259 [Gene]
  • LOC130000548:ATAC-STARR-seq lymphoblastoid silent region 19262 [Gene]
  • LOC130000553:ATAC-STARR-seq lymphoblastoid silent region 19263 [Gene]
  • LOC130000554:ATAC-STARR-seq lymphoblastoid silent region 19264 [Gene]
  • LOC130000557:ATAC-STARR-seq lymphoblastoid silent region 19265 [Gene]
  • LOC130000560:ATAC-STARR-seq lymphoblastoid silent region 19266 [Gene]
  • LOC130000564:ATAC-STARR-seq lymphoblastoid silent region 19268 [Gene]
  • LOC130000565:ATAC-STARR-seq lymphoblastoid silent region 19269 [Gene]
  • LOC130000566:ATAC-STARR-seq lymphoblastoid silent region 19270 [Gene]
  • LOC130000568:ATAC-STARR-seq lymphoblastoid silent region 19271 [Gene]
  • LOC130000569:ATAC-STARR-seq lymphoblastoid silent region 19272 [Gene]
  • LOC130000570:ATAC-STARR-seq lymphoblastoid silent region 19273 [Gene]
  • LOC130000571:ATAC-STARR-seq lymphoblastoid silent region 19274 [Gene]
  • LOC130000572:ATAC-STARR-seq lymphoblastoid silent region 19275 [Gene]
  • LOC130000573:ATAC-STARR-seq lymphoblastoid silent region 19276 [Gene]
  • LOC130000582:ATAC-STARR-seq lymphoblastoid silent region 19277 [Gene]
  • LOC130000587:ATAC-STARR-seq lymphoblastoid silent region 19278 [Gene]
  • LOC130000588:ATAC-STARR-seq lymphoblastoid silent region 19279 [Gene]
  • LOC130000591:ATAC-STARR-seq lymphoblastoid silent region 19280 [Gene]
  • LOC130000597:ATAC-STARR-seq lymphoblastoid silent region 19281 [Gene]
  • LOC130000598:ATAC-STARR-seq lymphoblastoid silent region 19282 [Gene]
  • LOC130000599:ATAC-STARR-seq lymphoblastoid silent region 19283 [Gene]
  • LOC130000600:ATAC-STARR-seq lymphoblastoid silent region 19284 [Gene]
  • LOC130000601:ATAC-STARR-seq lymphoblastoid silent region 19285 [Gene]
  • LOC130000602:ATAC-STARR-seq lymphoblastoid silent region 19286 [Gene]
  • LOC130000603:ATAC-STARR-seq lymphoblastoid silent region 19287 [Gene]
  • LOC130000605:ATAC-STARR-seq lymphoblastoid silent region 19288 [Gene]
  • LOC130000606:ATAC-STARR-seq lymphoblastoid silent region 19289 [Gene]
  • LOC130000607:ATAC-STARR-seq lymphoblastoid silent region 19290 [Gene]
  • LOC130000608:ATAC-STARR-seq lymphoblastoid silent region 19291 [Gene]
  • LOC130000609:ATAC-STARR-seq lymphoblastoid silent region 19292 [Gene]
  • LOC130000613:ATAC-STARR-seq lymphoblastoid silent region 19296 [Gene]
  • LOC130000614:ATAC-STARR-seq lymphoblastoid silent region 19297 [Gene]
  • LOC130000618:ATAC-STARR-seq lymphoblastoid silent region 19298 [Gene]
  • LOC130000620:ATAC-STARR-seq lymphoblastoid silent region 19299 [Gene]
  • LOC130000621:ATAC-STARR-seq lymphoblastoid silent region 19300 [Gene]
  • LOC130000623:ATAC-STARR-seq lymphoblastoid silent region 19302 [Gene]
  • LOC130000624:ATAC-STARR-seq lymphoblastoid silent region 19303 [Gene]
  • LOC130000627:ATAC-STARR-seq lymphoblastoid silent region 19304 [Gene]
  • LOC130000628:ATAC-STARR-seq lymphoblastoid silent region 19305 [Gene]
  • LOC130000629:ATAC-STARR-seq lymphoblastoid silent region 19306 [Gene]
  • LOC130000630:ATAC-STARR-seq lymphoblastoid silent region 19308 [Gene]
  • LOC130000632:ATAC-STARR-seq lymphoblastoid silent region 19310 [Gene]
  • LOC130000637:ATAC-STARR-seq lymphoblastoid silent region 19311 [Gene]
  • LOC130000638:ATAC-STARR-seq lymphoblastoid silent region 19312 [Gene]
  • LOC130000639:ATAC-STARR-seq lymphoblastoid silent region 19313 [Gene]
  • LOC130000641:ATAC-STARR-seq lymphoblastoid silent region 19315 [Gene]
  • LOC130000642:ATAC-STARR-seq lymphoblastoid silent region 19316 [Gene]
  • LOC130000643:ATAC-STARR-seq lymphoblastoid silent region 19317 [Gene]
  • LOC130000646:ATAC-STARR-seq lymphoblastoid silent region 19318 [Gene]
  • LOC130000655:ATAC-STARR-seq lymphoblastoid silent region 19319 [Gene]
  • LOC130000656:ATAC-STARR-seq lymphoblastoid silent region 19320 [Gene]
  • LOC130000657:ATAC-STARR-seq lymphoblastoid silent region 19321 [Gene]
  • LOC130000664:ATAC-STARR-seq lymphoblastoid silent region 19324 [Gene]
  • LOC130000665:ATAC-STARR-seq lymphoblastoid silent region 19325 [Gene]
  • LOC130000674:ATAC-STARR-seq lymphoblastoid silent region 19326 [Gene]
  • LOC130000677:ATAC-STARR-seq lymphoblastoid silent region 19327 [Gene]
  • BHLHE22-AS1:BHLHE22 antisense RNA 1 [Gene - HGNC]
  • LOC126860414:BRD4-independent group 4 enhancer GRCh37_chr8:67837556-67838755 [Gene]
  • LOC126860417:BRD4-independent group 4 enhancer GRCh37_chr8:72945660-72946859 [Gene]
  • LOC126860423:BRD4-independent group 4 enhancer GRCh37_chr8:76312357-76313556 [Gene]
  • LOC126860425:BRD4-independent group 4 enhancer GRCh37_chr8:80375461-80376660 [Gene]
  • LOC126860427:BRD4-independent group 4 enhancer GRCh37_chr8:81470238-81471437 [Gene]
  • LOC126860429:BRD4-independent group 4 enhancer GRCh37_chr8:81734976-81736175 [Gene]
  • LOC121331305:BRD4-independent group 4 enhancer GRCh37_chr8:82695196-82696395 [Gene]
  • C8orf34-AS1:C8orf34 antisense RNA 1 [Gene - HGNC]
  • C8orf44-SGK3:C8orf44-SGK3 readthrough [Gene - HGNC]
  • LOC126860406:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:63076864-63078063 [Gene]
  • LOC126860407:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:64599134-64600333 [Gene]
  • LOC126860409:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:66032098-66033297 [Gene]
  • LOC126860410:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:66084099-66085298 [Gene]
  • LOC126860415:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:69422928-69424127 [Gene]
  • LOC126860418:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:73496671-73497870 [Gene]
  • LOC126860419:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:73794231-73795430 [Gene]
  • LOC126860420:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75193255-75194454 [Gene]
  • LOC126860421:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:75513719-75514918 [Gene]
  • LOC126860422:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:76190151-76191350 [Gene]
  • LOC126860426:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:80635352-80636551 [Gene]
  • LOC126860428:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:81552571-81553770 [Gene]
  • LOC126860430:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:82262688-82263887 [Gene]
  • COPS5:COP9 signalosome subunit 5 [Gene - OMIM - HGNC]
  • LOC116186932:CRISPRi-validated cis-regulatory element chr8.1934 [Gene]
  • DNAJC5B:DnaJ heat shock protein family (Hsp40) member C5 beta [Gene - OMIM - HGNC]
  • EYA1:EYA transcriptional coactivator and phosphatase 1 [Gene - OMIM - HGNC]
  • LOC111556139:HNF1 motif-containing MPRA enhancer 71 [Gene]
  • LOC111556148:HNF4 motif-containing MPRA enhancer 108 [Gene]
  • LACTB2-AS1:LACTB2 antisense RNA 1 [Gene - HGNC]
  • LOC126860408:MED14-independent group 3 enhancer GRCh37_chr8:65322543-65323742 [Gene]
  • LOC126860411:MED14-independent group 3 enhancer GRCh37_chr8:66419280-66420479 [Gene]
  • LOC126860412:MED14-independent group 3 enhancer GRCh37_chr8:66862529-66863728 [Gene]
  • LOC126860416:MED14-independent group 3 enhancer GRCh37_chr8:72742776-72743975 [Gene]
  • MIR124-2HG:MIR124-2 host gene [Gene - HGNC]
  • MIR2052HG:MIR2052 host gene [Gene - HGNC]
  • LOC129389999:MPRA-validated peak7049 silencer [Gene]
  • LOC129390000:MPRA-validated peak7054 silencer [Gene]
  • LOC129390001:MPRA-validated peak7055 silencer [Gene]
  • LOC129390002:MPRA-validated peak7056 silencer [Gene]
  • LOC129390003:MPRA-validated peak7057 silencer [Gene]
  • LOC129390004:MPRA-validated peak7058 silencer [Gene]
  • LOC129390005:MPRA-validated peak7059 silencer [Gene]
  • LOC129390006:MPRA-validated peak7060 silencer [Gene]
  • LOC129390007:MPRA-validated peak7061 silencer [Gene]
  • LOC129390008:MPRA-validated peak7062 silencer [Gene]
  • LOC129390009:MPRA-validated peak7063 silencer [Gene]
  • LOC129390010:MPRA-validated peak7064 silencer [Gene]
  • LOC129390011:MPRA-validated peak7072 silencer [Gene]
  • LOC129390012:MPRA-validated peak7074 silencer [Gene]
  • LOC129390013:MPRA-validated peak7079 silencer [Gene]
  • LOC129390014:MPRA-validated peak7081 silencer [Gene]
  • LOC129390015:MPRA-validated peak7086 silencer [Gene]
  • LOC129390016:MPRA-validated peak7088 silencer [Gene]
  • LOC129390017:MPRA-validated peak7089 silencer [Gene]
  • MSC-AS1:MSC antisense RNA 1 [Gene - HGNC]
  • MYBL1:MYB proto-oncogene like 1 [Gene - OMIM - HGNC]
  • LOC111556136:NFE2L2 motif-containing MPRA enhancer 61 [Gene]
  • LOC132089605:Neanderthal introgressed variant-containing enhancer experimental_103601 [Gene]
  • LOC132089606:Neanderthal introgressed variant-containing enhancer experimental_103615 [Gene]
  • LOC132089607:Neanderthal introgressed variant-containing enhancer experimental_103650 [Gene]
  • LOC108281171:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62634171-62635370 [Gene]
  • LOC126860405:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:62672336-62673535 [Gene]
  • LOC126860413:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:67035753-67036952 [Gene]
  • LOC126860424:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:80031849-80033048 [Gene]
  • PDE7A-DT:PDE7A divergent transcript [Gene - HGNC]
  • PKIA-AS1:PKIA antisense RNA 1 [Gene - HGNC]
  • PRDM14:PR/SET domain 14 [Gene - OMIM - HGNC]
  • RDH10-AS1:RDH10 antisense RNA 1 [Gene - HGNC]
  • RRS1-DT:RRS1 divergent transcript [Gene - HGNC]
  • SLCO5A1-AS1:SLCO5A1 antisense RNA 1 [Gene - HGNC]
  • STAU2-AS1:STAU2 antisense RNA 1 [Gene - HGNC]
  • LOC121331304:Sharpr-MPRA regulatory region 10056 [Gene]
  • LOC124174276:Sharpr-MPRA regulatory region 113 [Gene]
  • LOC124174273:Sharpr-MPRA regulatory region 11728/13723 [Gene]
  • LOC113788293:Sharpr-MPRA regulatory region 11833 [Gene]
  • LOC124174284:Sharpr-MPRA regulatory region 11945 [Gene]
  • LOC124174267:Sharpr-MPRA regulatory region 12286 [Gene]
  • LOC121740719:Sharpr-MPRA regulatory region 13175 [Gene]
  • LOC124174280:Sharpr-MPRA regulatory region 13261 [Gene]
  • LOC124174264:Sharpr-MPRA regulatory region 1423 [Gene]
  • LOC113788291:Sharpr-MPRA regulatory region 14742 [Gene]
  • LOC124174274:Sharpr-MPRA regulatory region 147 [Gene]
  • LOC124174277:Sharpr-MPRA regulatory region 1735 [Gene]
  • LOC124174281:Sharpr-MPRA regulatory region 233 [Gene]
  • LOC124174265:Sharpr-MPRA regulatory region 3041 [Gene]
  • LOC124174283:Sharpr-MPRA regulatory region 3052 [Gene]
  • LOC124174278:Sharpr-MPRA regulatory region 3216 [Gene]
  • LOC113788295:Sharpr-MPRA regulatory region 4298 [Gene]
  • LOC124174282:Sharpr-MPRA regulatory region 4480 [Gene]
  • LOC124174266:Sharpr-MPRA regulatory region 492 [Gene]
  • LOC124174275:Sharpr-MPRA regulatory region 5072 [Gene]
  • LOC124174269:Sharpr-MPRA regulatory region 5318 [Gene]
  • LOC113788292:Sharpr-MPRA regulatory region 7401 [Gene]
  • LOC124174279:Sharpr-MPRA regulatory region 7553 [Gene]
  • LOC124174272:Sharpr-MPRA regulatory region 8363 [Gene]
  • LOC124174268:Sharpr-MPRA regulatory region 8634 [Gene]
  • LOC124174271:Sharpr-MPRA regulatory region 891 [Gene]
  • LOC124174270:Sharpr-MPRA regulatory region 913 [Gene]
  • TPD52-MRPS28:TPD52-MRPS28 readthrough [Gene]
  • LOC110121038:VISTA enhancer hs1239 [Gene]
  • LOC110121048:VISTA enhancer hs1305 [Gene]
  • LOC110121054:VISTA enhancer hs1318 [Gene]
  • LOC110121096:VISTA enhancer hs1422 [Gene]
  • LOC110121186:VISTA enhancer hs1681 [Gene]
  • LOC110120756:VISTA enhancer hs742 [Gene]
  • LOC110120766:VISTA enhancer hs774 [Gene]
  • LOC110120797:VISTA enhancer hs891 [Gene]
  • XKR9:XK related 9 [Gene - HGNC]
  • YTHDF3:YTH N6-methyladenosine RNA binding protein F3 [Gene - OMIM - HGNC]
  • YTHDF3-DT:YTHDF3 divergent transcript [Gene - HGNC]
  • ZFHX4-AS1:ZFHX4 antisense RNA 1 [Gene - HGNC]
  • ADHFE1:alcohol dehydrogenase iron containing 1 [Gene - OMIM - HGNC]
  • TTPA:alpha tocopherol transfer protein [Gene - OMIM - HGNC]
  • ARMC1:armadillo repeat containing 1 [Gene - OMIM - HGNC]
  • ASPH:aspartate beta-hydroxylase [Gene - OMIM - HGNC]
  • BHLHE22:basic helix-loop-helix family member e22 [Gene - OMIM - HGNC]
  • PKIA:cAMP-dependent protein kinase inhibitor alpha [Gene - OMIM - HGNC]
  • CASC9:cancer susceptibility 9 [Gene - HGNC]
  • CPA6:carboxypeptidase A6 [Gene - OMIM - HGNC]
  • CSPP1:centrosome and spindle pole associated protein 1 [Gene - OMIM - HGNC]
  • CHMP4C:charged multivesicular body protein 4C [Gene - OMIM - HGNC]
  • C8orf34:chromosome 8 open reading frame 34 [Gene - HGNC]
  • C8orf89:chromosome 8 open reading frame 89 [Gene - HGNC]
  • C8orf44:chromosome 8 putative open reading frame 44 [Gene - HGNC]
  • CRH:corticotropin releasing hormone [Gene - OMIM - HGNC]
  • CRISPLD1:cysteine rich secretory protein LCCL domain containing 1 [Gene - HGNC]
  • CYP7B1:cytochrome P450 family 7 subfamily B member 1 [Gene - OMIM - HGNC]
  • ELOC:elongin C [Gene - OMIM - HGNC]
  • FABP12:fatty acid binding protein 12 [Gene - OMIM - HGNC]
  • FABP4:fatty acid binding protein 4 [Gene - OMIM - HGNC]
  • FABP5:fatty acid binding protein 5 [Gene - OMIM - HGNC]
  • FABP9:fatty acid binding protein 9 [Gene - HGNC]
  • GGH:gamma-glutamyl hydrolase [Gene - OMIM - HGNC]
  • GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
  • HNF4G:hepatocyte nuclear factor 4 gamma [Gene - OMIM - HGNC]
  • HEY1:hes related family bHLH transcription factor with YRPW motif 1 [Gene - OMIM - HGNC]
  • IMPA1:inositol monophosphatase 1 [Gene - OMIM - HGNC]
  • IL7:interleukin 7 [Gene - OMIM - HGNC]
  • JPH1:junctophilin 1 [Gene - OMIM - HGNC]
  • LACTB2:lactamase beta 2 [Gene - OMIM - HGNC]
  • LNMICC:lncRNA associated with lymph node metastasis in cervical cancer [Gene - HGNC]
  • LINC01109:long intergenic non-protein coding RNA 1109 [Gene - HGNC]
  • LINC01111:long intergenic non-protein coding RNA 1111 [Gene - HGNC]
  • LINC01289:long intergenic non-protein coding RNA 1289 [Gene - HGNC]
  • LINC01299:long intergenic non-protein coding RNA 1299 [Gene - HGNC]
  • LINC01414:long intergenic non-protein coding RNA 1414 [Gene - HGNC]
  • LINC01592:long intergenic non-protein coding RNA 1592 [Gene - HGNC]
  • LINC01603:long intergenic non-protein coding RNA 1603 [Gene - HGNC]
  • LINC01607:long intergenic non-protein coding RNA 1607 [Gene - HGNC]
  • LINC01617:long intergenic non-protein coding RNA 1617 [Gene - HGNC]
  • LINC02155:long intergenic non-protein coding RNA 2155 [Gene - HGNC]
  • LINC02235:long intergenic non-protein coding RNA 2235 [Gene - HGNC]
  • LINC00251:long intergenic non-protein coding RNA 251 [Gene - HGNC]
  • LINC02605:long intergenic non-protein coding RNA 2605 [Gene - HGNC]
  • LINC02839:long intergenic non-protein coding RNA 2839 [Gene - HGNC]
  • LINC02842:long intergenic non-protein coding RNA 2842 [Gene - HGNC]
  • LINC02986:long intergenic non-protein coding RNA 2986 [Gene - HGNC]
  • LINC03020:long intergenic non-protein coding RNA 3020 [Gene - HGNC]
  • LINC03071:long intergenic non-protein coding RNA 3071 [Gene - HGNC]
  • LINC00967:long intergenic non-protein coding RNA 967 [Gene - HGNC]
  • LY96:lymphocyte antigen 96 [Gene - OMIM - HGNC]
  • MIR12123:microRNA 12123 [Gene - HGNC]
  • MIR124-2:microRNA 124-2 [Gene - HGNC]
  • MIR2052:microRNA 2052 [Gene - HGNC]
  • MIR3149:microRNA 3149 [Gene - HGNC]
  • MIR4470:microRNA 4470 [Gene - HGNC]
  • MIR5681A:microRNA 5681a [Gene - HGNC]
  • MIR5681B:microRNA 5681b [Gene - HGNC]
  • MIR5708:microRNA 5708 [Gene - HGNC]
  • MCMDC2:minichromosome maintenance domain containing 2 [Gene - OMIM - HGNC]
  • MTFR1:mitochondrial fission regulator 1 [Gene - OMIM - HGNC]
  • MRPS28:mitochondrial ribosomal protein S28 [Gene - OMIM - HGNC]
  • MSC:musculin [Gene - OMIM - HGNC]
  • NCOA2:nuclear receptor coactivator 2 [Gene - OMIM - HGNC]
  • PI15:peptidase inhibitor 15 [Gene - OMIM - HGNC]
  • PMP2:peripheral myelin protein 2 [Gene - OMIM - HGNC]
  • PEX2:peroxisomal biogenesis factor 2 [Gene - OMIM - HGNC]
  • PREX2:phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 [Gene - OMIM - HGNC]
  • PDE7A:phosphodiesterase 7A [Gene - OMIM - HGNC]
  • PAG1:phosphoprotein membrane anchor with glycosphingolipid microdomains 1 [Gene - OMIM - HGNC]
  • KCNB2:potassium voltage-gated channel subfamily B member 2 [Gene - OMIM - HGNC]
  • PPP1R42:protein phosphatase 1 regulatory subunit 42 [Gene - OMIM - HGNC]
  • RDH10:retinol dehydrogenase 10 [Gene - OMIM - HGNC]
  • RPL7:ribosomal protein L7 [Gene - OMIM - HGNC]
  • RRS1:ribosome biogenesis regulator 1 homolog [Gene - OMIM - HGNC]
  • SGK3:serum/glucocorticoid regulated kinase family member 3 [Gene - OMIM - HGNC]
  • SNHG6:small nucleolar RNA host gene 6 [Gene - OMIM - HGNC]
  • SNORD87:small nucleolar RNA, C/D box 87 [Gene - OMIM - HGNC]
  • NKAIN3:sodium/potassium transporting ATPase interacting 3 [Gene - OMIM - HGNC]
  • SLC10A5:solute carrier family 10 member 5 [Gene - OMIM - HGNC]
  • SLCO5A1:solute carrier organic anion transporter family member 5A1 [Gene - OMIM - HGNC]
  • SBSPON:somatomedin B and thrombospondin type 1 domain containing [Gene - HGNC]
  • SNX16:sorting nexin 16 [Gene - OMIM - HGNC]
  • STMN2:stathmin 2 [Gene - OMIM - HGNC]
  • STAU2:staufen double-stranded RNA binding protein 2 [Gene - OMIM - HGNC]
  • SULF1:sulfatase 1 [Gene - OMIM - HGNC]
  • TRA-AGC8-2:tRNA-Ala (anticodon AGC) 8-2 [Gene - HGNC]
  • TRY-GTA5-1:tRNA-Tyr (anticodon GTA) 5-1 [Gene - HGNC]
  • TRY-GTA5-2:tRNA-Tyr (anticodon GTA) 5-2 [Gene - HGNC]
  • TERF1:telomeric repeat binding factor 1 [Gene - OMIM - HGNC]
  • TCF24:transcription factor 24 [Gene - HGNC]
  • TRPA1:transient receptor potential cation channel subfamily A member 1 [Gene - OMIM - HGNC]
  • TRAM1:translocation associated membrane protein 1 [Gene - OMIM - HGNC]
  • TMEM70:transmembrane protein 70 [Gene - OMIM - HGNC]
  • TRIM55:tripartite motif containing 55 [Gene - OMIM - HGNC]
  • TPD52:tumor protein D52 [Gene - OMIM - HGNC]
  • UBE2W:ubiquitin conjugating enzyme E2 W [Gene - OMIM - HGNC]
  • LOC101926908:uncharacterized LOC101926908 [Gene]
  • LOC101927040:uncharacterized LOC101927040 [Gene]
  • LOC102724612:uncharacterized LOC102724612 [Gene]
  • LOC102724874:uncharacterized LOC102724874 [Gene]
  • LOC105375875:uncharacterized LOC105375875 [Gene]
  • LOC105375878:uncharacterized LOC105375878 [Gene]
  • LOC105375924:uncharacterized LOC105375924 [Gene]
  • VCPIP1:valosin containing protein interacting protein 1 [Gene - OMIM - HGNC]
  • VXN:vexin [Gene - HGNC]
  • ZFAND1:zinc finger AN1-type containing 1 [Gene - HGNC]
  • ZC2HC1A:zinc finger C2HC-type containing 1A [Gene - HGNC]
  • ZBTB10:zinc finger and BTB domain containing 10 [Gene - OMIM - HGNC]
  • ZFHX4:zinc finger homeobox 4 [Gene - OMIM - HGNC]
  • ZNF704:zinc finger protein 704 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q12.3-21.13
Genomic location:
Preferred name:
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3
HGVS:
  • NC_000008.11:g.(?_61691800)_(82537696_?)dup
  • NC_000008.10:g.(?_62604359)_(83449931_?)dup
  • NC_000008.9:g.(?_62766913)_(83612486_?)dup
Links:
dbVar: nssv579094; dbVar: nsv532317
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
SCV000081017ISCA site 14

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 14, SCV000081017.5

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

Last Updated: May 7, 2024