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GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 14, 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:
RCV000139033.8

Allele description [Variation Report for GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1]

GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1

Genes:
  • HACD2:3-hydroxyacyl-CoA dehydratase 2 [Gene - OMIM - HGNC]
  • LOC108004532:3q13.2-q13.31 distal HERV-H recombination region [Gene]
  • ADPRH:ADP-ribosylarginine hydrolase [Gene - OMIM - HGNC]
  • ALDH1L1-AS1:ALDH1L1 antisense RNA 1 [Gene - HGNC]
  • ALDH1L1-AS2:ALDH1L1 antisense RNA 2 [Gene - HGNC]
  • ARHGAP31-AS1:ARHGAP31 antisense RNA 1 [Gene - HGNC]
  • LOC129937240:ATAC-STARR-seq lymphoblastoid active region 20247 [Gene]
  • LOC129937242:ATAC-STARR-seq lymphoblastoid active region 20248 [Gene]
  • LOC129937243:ATAC-STARR-seq lymphoblastoid active region 20249 [Gene]
  • LOC129937244:ATAC-STARR-seq lymphoblastoid active region 20250 [Gene]
  • LOC129937245:ATAC-STARR-seq lymphoblastoid active region 20251 [Gene]
  • LOC129937246:ATAC-STARR-seq lymphoblastoid active region 20252 [Gene]
  • LOC129937247:ATAC-STARR-seq lymphoblastoid active region 20253 [Gene]
  • LOC129937248:ATAC-STARR-seq lymphoblastoid active region 20254 [Gene]
  • LOC129937249:ATAC-STARR-seq lymphoblastoid active region 20255 [Gene]
  • LOC129937250:ATAC-STARR-seq lymphoblastoid active region 20256 [Gene]
  • LOC129937251:ATAC-STARR-seq lymphoblastoid active region 20257 [Gene]
  • LOC129937252:ATAC-STARR-seq lymphoblastoid active region 20258 [Gene]
  • LOC129937253:ATAC-STARR-seq lymphoblastoid active region 20259 [Gene]
  • LOC129937255:ATAC-STARR-seq lymphoblastoid active region 20260 [Gene]
  • LOC129937259:ATAC-STARR-seq lymphoblastoid active region 20263 [Gene]
  • LOC129937262:ATAC-STARR-seq lymphoblastoid active region 20264 [Gene]
  • LOC129937263:ATAC-STARR-seq lymphoblastoid active region 20265 [Gene]
  • LOC129937264:ATAC-STARR-seq lymphoblastoid active region 20266 [Gene]
  • LOC129937265:ATAC-STARR-seq lymphoblastoid active region 20267 [Gene]
  • LOC129937266:ATAC-STARR-seq lymphoblastoid active region 20268 [Gene]
  • LOC129937267:ATAC-STARR-seq lymphoblastoid active region 20270 [Gene]
  • LOC129937268:ATAC-STARR-seq lymphoblastoid active region 20271 [Gene]
  • LOC129937269:ATAC-STARR-seq lymphoblastoid active region 20272 [Gene]
  • LOC129937270:ATAC-STARR-seq lymphoblastoid active region 20273 [Gene]
  • LOC129937271:ATAC-STARR-seq lymphoblastoid active region 20274 [Gene]
  • LOC129937272:ATAC-STARR-seq lymphoblastoid active region 20275 [Gene]
  • LOC129937273:ATAC-STARR-seq lymphoblastoid active region 20276 [Gene]
  • LOC129937274:ATAC-STARR-seq lymphoblastoid active region 20277 [Gene]
  • LOC129937276:ATAC-STARR-seq lymphoblastoid active region 20278 [Gene]
  • LOC129937277:ATAC-STARR-seq lymphoblastoid active region 20279 [Gene]
  • LOC129937278:ATAC-STARR-seq lymphoblastoid active region 20280 [Gene]
  • LOC129937281:ATAC-STARR-seq lymphoblastoid active region 20281 [Gene]
  • LOC129937283:ATAC-STARR-seq lymphoblastoid active region 20282 [Gene]
  • LOC129937284:ATAC-STARR-seq lymphoblastoid active region 20283 [Gene]
  • LOC129937285:ATAC-STARR-seq lymphoblastoid active region 20284 [Gene]
  • LOC129937287:ATAC-STARR-seq lymphoblastoid active region 20285 [Gene]
  • LOC129937288:ATAC-STARR-seq lymphoblastoid active region 20286 [Gene]
  • LOC129937289:ATAC-STARR-seq lymphoblastoid active region 20287 [Gene]
  • LOC129937292:ATAC-STARR-seq lymphoblastoid active region 20288 [Gene]
  • LOC129937293:ATAC-STARR-seq lymphoblastoid active region 20289 [Gene]
  • LOC129937294:ATAC-STARR-seq lymphoblastoid active region 20290 [Gene]
  • LOC129937295:ATAC-STARR-seq lymphoblastoid active region 20291 [Gene]
  • LOC129937296:ATAC-STARR-seq lymphoblastoid active region 20292 [Gene]
  • LOC129937297:ATAC-STARR-seq lymphoblastoid active region 20293 [Gene]
  • LOC129937301:ATAC-STARR-seq lymphoblastoid active region 20294 [Gene]
  • LOC129937302:ATAC-STARR-seq lymphoblastoid active region 20295 [Gene]
  • LOC129937304:ATAC-STARR-seq lymphoblastoid active region 20296 [Gene]
  • LOC129937305:ATAC-STARR-seq lymphoblastoid active region 20297 [Gene]
  • LOC129937306:ATAC-STARR-seq lymphoblastoid active region 20298 [Gene]
  • LOC129937307:ATAC-STARR-seq lymphoblastoid active region 20299 [Gene]
  • LOC129937308:ATAC-STARR-seq lymphoblastoid active region 20301 [Gene]
  • LOC129937309:ATAC-STARR-seq lymphoblastoid active region 20302 [Gene]
  • LOC129937310:ATAC-STARR-seq lymphoblastoid active region 20304 [Gene]
  • LOC129937311:ATAC-STARR-seq lymphoblastoid active region 20305 [Gene]
  • LOC129937312:ATAC-STARR-seq lymphoblastoid active region 20306 [Gene]
  • LOC129937313:ATAC-STARR-seq lymphoblastoid active region 20307 [Gene]
  • LOC129937314:ATAC-STARR-seq lymphoblastoid active region 20308 [Gene]
  • LOC129937315:ATAC-STARR-seq lymphoblastoid active region 20309 [Gene]
  • LOC129937316:ATAC-STARR-seq lymphoblastoid active region 20310 [Gene]
  • LOC129937317:ATAC-STARR-seq lymphoblastoid active region 20311 [Gene]
  • LOC129937318:ATAC-STARR-seq lymphoblastoid active region 20312 [Gene]
  • LOC129937320:ATAC-STARR-seq lymphoblastoid active region 20314 [Gene]
  • LOC129937321:ATAC-STARR-seq lymphoblastoid active region 20316 [Gene]
  • LOC129937322:ATAC-STARR-seq lymphoblastoid active region 20317 [Gene]
  • LOC129937323:ATAC-STARR-seq lymphoblastoid active region 20318 [Gene]
  • LOC129937324:ATAC-STARR-seq lymphoblastoid active region 20319 [Gene]
  • LOC129937325:ATAC-STARR-seq lymphoblastoid active region 20320 [Gene]
  • LOC129937326:ATAC-STARR-seq lymphoblastoid active region 20321 [Gene]
  • LOC129937327:ATAC-STARR-seq lymphoblastoid active region 20322 [Gene]
  • LOC129937328:ATAC-STARR-seq lymphoblastoid active region 20324 [Gene]
  • LOC129937329:ATAC-STARR-seq lymphoblastoid active region 20325 [Gene]
  • LOC129937330:ATAC-STARR-seq lymphoblastoid active region 20327 [Gene]
  • LOC129937331:ATAC-STARR-seq lymphoblastoid active region 20328 [Gene]
  • LOC129937333:ATAC-STARR-seq lymphoblastoid active region 20330 [Gene]
  • LOC129937334:ATAC-STARR-seq lymphoblastoid active region 20331 [Gene]
  • LOC129937337:ATAC-STARR-seq lymphoblastoid active region 20332 [Gene]
  • LOC129937338:ATAC-STARR-seq lymphoblastoid active region 20333 [Gene]
  • LOC129937339:ATAC-STARR-seq lymphoblastoid active region 20334 [Gene]
  • LOC129937340:ATAC-STARR-seq lymphoblastoid active region 20335 [Gene]
  • LOC129937341:ATAC-STARR-seq lymphoblastoid active region 20339 [Gene]
  • LOC129937343:ATAC-STARR-seq lymphoblastoid active region 20340 [Gene]
  • LOC129937344:ATAC-STARR-seq lymphoblastoid active region 20342 [Gene]
  • LOC129937345:ATAC-STARR-seq lymphoblastoid active region 20343 [Gene]
  • LOC129937346:ATAC-STARR-seq lymphoblastoid active region 20344 [Gene]
  • LOC129937347:ATAC-STARR-seq lymphoblastoid active region 20345 [Gene]
  • LOC129937348:ATAC-STARR-seq lymphoblastoid active region 20346 [Gene]
  • LOC129937349:ATAC-STARR-seq lymphoblastoid active region 20347 [Gene]
  • LOC129937350:ATAC-STARR-seq lymphoblastoid active region 20348 [Gene]
  • LOC129937351:ATAC-STARR-seq lymphoblastoid active region 20349 [Gene]
  • LOC129937352:ATAC-STARR-seq lymphoblastoid active region 20350 [Gene]
  • LOC129937353:ATAC-STARR-seq lymphoblastoid active region 20351 [Gene]
  • LOC129937354:ATAC-STARR-seq lymphoblastoid active region 20352 [Gene]
  • LOC129937355:ATAC-STARR-seq lymphoblastoid active region 20353 [Gene]
  • LOC129937356:ATAC-STARR-seq lymphoblastoid active region 20354 [Gene]
  • LOC129937358:ATAC-STARR-seq lymphoblastoid active region 20355 [Gene]
  • LOC129937359:ATAC-STARR-seq lymphoblastoid active region 20356 [Gene]
  • LOC129937360:ATAC-STARR-seq lymphoblastoid active region 20357 [Gene]
  • LOC129937361:ATAC-STARR-seq lymphoblastoid active region 20358 [Gene]
  • LOC129937362:ATAC-STARR-seq lymphoblastoid active region 20359 [Gene]
  • LOC129937363:ATAC-STARR-seq lymphoblastoid active region 20360 [Gene]
  • LOC129937364:ATAC-STARR-seq lymphoblastoid active region 20361 [Gene]
  • LOC129937365:ATAC-STARR-seq lymphoblastoid active region 20362 [Gene]
  • LOC129937366:ATAC-STARR-seq lymphoblastoid active region 20363 [Gene]
  • LOC129937367:ATAC-STARR-seq lymphoblastoid active region 20364 [Gene]
  • LOC129937369:ATAC-STARR-seq lymphoblastoid active region 20365 [Gene]
  • LOC129937370:ATAC-STARR-seq lymphoblastoid active region 20366 [Gene]
  • LOC129937371:ATAC-STARR-seq lymphoblastoid active region 20368 [Gene]
  • LOC129937372:ATAC-STARR-seq lymphoblastoid active region 20369 [Gene]
  • LOC129937373:ATAC-STARR-seq lymphoblastoid active region 20373 [Gene]
  • LOC129937374:ATAC-STARR-seq lymphoblastoid active region 20374 [Gene]
  • LOC129937375:ATAC-STARR-seq lymphoblastoid active region 20375 [Gene]
  • LOC129937376:ATAC-STARR-seq lymphoblastoid active region 20376 [Gene]
  • LOC129937379:ATAC-STARR-seq lymphoblastoid active region 20377 [Gene]
  • LOC129937380:ATAC-STARR-seq lymphoblastoid active region 20378 [Gene]
  • LOC129937381:ATAC-STARR-seq lymphoblastoid active region 20379 [Gene]
  • LOC129937383:ATAC-STARR-seq lymphoblastoid active region 20380 [Gene]
  • LOC129937384:ATAC-STARR-seq lymphoblastoid active region 20382 [Gene]
  • LOC129937386:ATAC-STARR-seq lymphoblastoid active region 20384 [Gene]
  • LOC129937387:ATAC-STARR-seq lymphoblastoid active region 20385 [Gene]
  • LOC129937388:ATAC-STARR-seq lymphoblastoid active region 20386 [Gene]
  • LOC129937390:ATAC-STARR-seq lymphoblastoid active region 20387 [Gene]
  • LOC129937391:ATAC-STARR-seq lymphoblastoid active region 20389 [Gene]
  • LOC129937393:ATAC-STARR-seq lymphoblastoid active region 20390 [Gene]
  • LOC129937394:ATAC-STARR-seq lymphoblastoid active region 20391 [Gene]
  • LOC129937395:ATAC-STARR-seq lymphoblastoid active region 20392 [Gene]
  • LOC129937399:ATAC-STARR-seq lymphoblastoid active region 20393 [Gene]
  • LOC129937400:ATAC-STARR-seq lymphoblastoid active region 20394 [Gene]
  • LOC129937403:ATAC-STARR-seq lymphoblastoid active region 20395 [Gene]
  • LOC129937405:ATAC-STARR-seq lymphoblastoid active region 20396 [Gene]
  • LOC129937407:ATAC-STARR-seq lymphoblastoid active region 20397 [Gene]
  • LOC129937408:ATAC-STARR-seq lymphoblastoid active region 20398 [Gene]
  • LOC129937409:ATAC-STARR-seq lymphoblastoid active region 20399 [Gene]
  • LOC129937410:ATAC-STARR-seq lymphoblastoid active region 20400 [Gene]
  • LOC129937411:ATAC-STARR-seq lymphoblastoid active region 20401 [Gene]
  • LOC129937413:ATAC-STARR-seq lymphoblastoid active region 20403 [Gene]
  • LOC129937414:ATAC-STARR-seq lymphoblastoid active region 20404 [Gene]
  • LOC129937415:ATAC-STARR-seq lymphoblastoid active region 20405 [Gene]
  • LOC129937416:ATAC-STARR-seq lymphoblastoid active region 20406 [Gene]
  • LOC129937417:ATAC-STARR-seq lymphoblastoid active region 20407 [Gene]
  • LOC129937420:ATAC-STARR-seq lymphoblastoid active region 20408 [Gene]
  • LOC129937425:ATAC-STARR-seq lymphoblastoid active region 20409 [Gene]
  • LOC129937426:ATAC-STARR-seq lymphoblastoid active region 20412 [Gene]
  • LOC129937427:ATAC-STARR-seq lymphoblastoid active region 20413 [Gene]
  • LOC129937428:ATAC-STARR-seq lymphoblastoid active region 20414 [Gene]
  • LOC129937429:ATAC-STARR-seq lymphoblastoid active region 20415 [Gene]
  • LOC129937430:ATAC-STARR-seq lymphoblastoid active region 20416 [Gene]
  • LOC129937431:ATAC-STARR-seq lymphoblastoid active region 20417 [Gene]
  • LOC129937432:ATAC-STARR-seq lymphoblastoid active region 20418 [Gene]
  • LOC129937434:ATAC-STARR-seq lymphoblastoid active region 20421 [Gene]
  • LOC129937435:ATAC-STARR-seq lymphoblastoid active region 20422 [Gene]
  • LOC129937436:ATAC-STARR-seq lymphoblastoid active region 20423 [Gene]
  • LOC129937437:ATAC-STARR-seq lymphoblastoid active region 20424 [Gene]
  • LOC129937438:ATAC-STARR-seq lymphoblastoid active region 20425 [Gene]
  • LOC129937440:ATAC-STARR-seq lymphoblastoid active region 20426 [Gene]
  • LOC129937441:ATAC-STARR-seq lymphoblastoid active region 20427 [Gene]
  • LOC129937445:ATAC-STARR-seq lymphoblastoid active region 20428 [Gene]
  • LOC129937446:ATAC-STARR-seq lymphoblastoid active region 20429 [Gene]
  • LOC129937447:ATAC-STARR-seq lymphoblastoid active region 20430 [Gene]
  • LOC129937449:ATAC-STARR-seq lymphoblastoid active region 20431 [Gene]
  • LOC129937450:ATAC-STARR-seq lymphoblastoid active region 20432 [Gene]
  • LOC129937451:ATAC-STARR-seq lymphoblastoid active region 20433 [Gene]
  • LOC129937453:ATAC-STARR-seq lymphoblastoid active region 20434 [Gene]
  • LOC129937458:ATAC-STARR-seq lymphoblastoid active region 20435 [Gene]
  • LOC129937459:ATAC-STARR-seq lymphoblastoid active region 20436 [Gene]
  • LOC129937461:ATAC-STARR-seq lymphoblastoid active region 20437 [Gene]
  • LOC129937465:ATAC-STARR-seq lymphoblastoid active region 20439 [Gene]
  • LOC129937467:ATAC-STARR-seq lymphoblastoid active region 20441 [Gene]
  • LOC129937469:ATAC-STARR-seq lymphoblastoid active region 20445 [Gene]
  • LOC129937470:ATAC-STARR-seq lymphoblastoid active region 20446 [Gene]
  • LOC129937471:ATAC-STARR-seq lymphoblastoid active region 20447 [Gene]
  • LOC129937475:ATAC-STARR-seq lymphoblastoid active region 20449 [Gene]
  • LOC129937476:ATAC-STARR-seq lymphoblastoid active region 20450 [Gene]
  • LOC129937478:ATAC-STARR-seq lymphoblastoid active region 20451 [Gene]
  • LOC129937479:ATAC-STARR-seq lymphoblastoid active region 20452 [Gene]
  • LOC129937480:ATAC-STARR-seq lymphoblastoid active region 20453 [Gene]
  • LOC129937481:ATAC-STARR-seq lymphoblastoid active region 20454 [Gene]
  • LOC129937483:ATAC-STARR-seq lymphoblastoid active region 20455 [Gene]
  • LOC129937484:ATAC-STARR-seq lymphoblastoid active region 20456 [Gene]
  • LOC129937490:ATAC-STARR-seq lymphoblastoid active region 20458 [Gene]
  • LOC129937494:ATAC-STARR-seq lymphoblastoid active region 20459 [Gene]
  • LOC129937495:ATAC-STARR-seq lymphoblastoid active region 20460 [Gene]
  • LOC129937496:ATAC-STARR-seq lymphoblastoid active region 20463 [Gene]
  • LOC129937497:ATAC-STARR-seq lymphoblastoid active region 20464 [Gene]
  • LOC129937498:ATAC-STARR-seq lymphoblastoid active region 20468 [Gene]
  • LOC129937499:ATAC-STARR-seq lymphoblastoid active region 20469 [Gene]
  • LOC129937500:ATAC-STARR-seq lymphoblastoid active region 20470 [Gene]
  • LOC129937501:ATAC-STARR-seq lymphoblastoid active region 20471 [Gene]
  • LOC129937502:ATAC-STARR-seq lymphoblastoid active region 20472 [Gene]
  • LOC129937503:ATAC-STARR-seq lymphoblastoid active region 20473 [Gene]
  • LOC129937505:ATAC-STARR-seq lymphoblastoid active region 20475 [Gene]
  • LOC129937509:ATAC-STARR-seq lymphoblastoid active region 20476 [Gene]
  • LOC129937511:ATAC-STARR-seq lymphoblastoid active region 20477 [Gene]
  • LOC129937513:ATAC-STARR-seq lymphoblastoid active region 20478 [Gene]
  • LOC129937514:ATAC-STARR-seq lymphoblastoid active region 20479 [Gene]
  • LOC129937515:ATAC-STARR-seq lymphoblastoid active region 20482 [Gene]
  • LOC129937516:ATAC-STARR-seq lymphoblastoid active region 20483 [Gene]
  • LOC129937519:ATAC-STARR-seq lymphoblastoid active region 20484 [Gene]
  • LOC129937520:ATAC-STARR-seq lymphoblastoid active region 20487 [Gene]
  • LOC129937522:ATAC-STARR-seq lymphoblastoid active region 20488 [Gene]
  • LOC129937523:ATAC-STARR-seq lymphoblastoid active region 20489 [Gene]
  • LOC129937524:ATAC-STARR-seq lymphoblastoid active region 20490 [Gene]
  • LOC129937525:ATAC-STARR-seq lymphoblastoid active region 20493 [Gene]
  • LOC129937241:ATAC-STARR-seq lymphoblastoid silent region 14605 [Gene]
  • LOC129937254:ATAC-STARR-seq lymphoblastoid silent region 14606 [Gene]
  • LOC129937256:ATAC-STARR-seq lymphoblastoid silent region 14607 [Gene]
  • LOC129937257:ATAC-STARR-seq lymphoblastoid silent region 14608 [Gene]
  • LOC129937258:ATAC-STARR-seq lymphoblastoid silent region 14609 [Gene]
  • LOC129937260:ATAC-STARR-seq lymphoblastoid silent region 14611 [Gene]
  • LOC129937261:ATAC-STARR-seq lymphoblastoid silent region 14613 [Gene]
  • LOC129937275:ATAC-STARR-seq lymphoblastoid silent region 14614 [Gene]
  • LOC129937279:ATAC-STARR-seq lymphoblastoid silent region 14615 [Gene]
  • LOC129937280:ATAC-STARR-seq lymphoblastoid silent region 14616 [Gene]
  • LOC129937282:ATAC-STARR-seq lymphoblastoid silent region 14617 [Gene]
  • LOC129937286:ATAC-STARR-seq lymphoblastoid silent region 14618 [Gene]
  • LOC129937290:ATAC-STARR-seq lymphoblastoid silent region 14622 [Gene]
  • LOC129937291:ATAC-STARR-seq lymphoblastoid silent region 14623 [Gene]
  • LOC129937298:ATAC-STARR-seq lymphoblastoid silent region 14624 [Gene]
  • LOC129937299:ATAC-STARR-seq lymphoblastoid silent region 14625 [Gene]
  • LOC129937300:ATAC-STARR-seq lymphoblastoid silent region 14626 [Gene]
  • LOC129937303:ATAC-STARR-seq lymphoblastoid silent region 14627 [Gene]
  • LOC129937319:ATAC-STARR-seq lymphoblastoid silent region 14631 [Gene]
  • LOC129937332:ATAC-STARR-seq lymphoblastoid silent region 14634 [Gene]
  • LOC129937335:ATAC-STARR-seq lymphoblastoid silent region 14635 [Gene]
  • LOC129937336:ATAC-STARR-seq lymphoblastoid silent region 14636 [Gene]
  • LOC129937342:ATAC-STARR-seq lymphoblastoid silent region 14637 [Gene]
  • LOC129937357:ATAC-STARR-seq lymphoblastoid silent region 14638 [Gene]
  • LOC129937368:ATAC-STARR-seq lymphoblastoid silent region 14639 [Gene]
  • LOC129937377:ATAC-STARR-seq lymphoblastoid silent region 14641 [Gene]
  • LOC129937378:ATAC-STARR-seq lymphoblastoid silent region 14642 [Gene]
  • LOC129937382:ATAC-STARR-seq lymphoblastoid silent region 14643 [Gene]
  • LOC129937385:ATAC-STARR-seq lymphoblastoid silent region 14644 [Gene]
  • LOC129937389:ATAC-STARR-seq lymphoblastoid silent region 14645 [Gene]
  • LOC129937392:ATAC-STARR-seq lymphoblastoid silent region 14646 [Gene]
  • LOC129937396:ATAC-STARR-seq lymphoblastoid silent region 14647 [Gene]
  • LOC129937397:ATAC-STARR-seq lymphoblastoid silent region 14648 [Gene]
  • LOC129937398:ATAC-STARR-seq lymphoblastoid silent region 14649 [Gene]
  • LOC129937401:ATAC-STARR-seq lymphoblastoid silent region 14650 [Gene]
  • LOC129937402:ATAC-STARR-seq lymphoblastoid silent region 14651 [Gene]
  • LOC129937404:ATAC-STARR-seq lymphoblastoid silent region 14652 [Gene]
  • LOC129937406:ATAC-STARR-seq lymphoblastoid silent region 14653 [Gene]
  • LOC129937412:ATAC-STARR-seq lymphoblastoid silent region 14654 [Gene]
  • LOC129937418:ATAC-STARR-seq lymphoblastoid silent region 14655 [Gene]
  • LOC129937419:ATAC-STARR-seq lymphoblastoid silent region 14656 [Gene]
  • LOC129937421:ATAC-STARR-seq lymphoblastoid silent region 14657 [Gene]
  • LOC129937422:ATAC-STARR-seq lymphoblastoid silent region 14658 [Gene]
  • LOC129937423:ATAC-STARR-seq lymphoblastoid silent region 14659 [Gene]
  • LOC129937424:ATAC-STARR-seq lymphoblastoid silent region 14660 [Gene]
  • LOC129937433:ATAC-STARR-seq lymphoblastoid silent region 14661 [Gene]
  • LOC129937439:ATAC-STARR-seq lymphoblastoid silent region 14662 [Gene]
  • LOC129937442:ATAC-STARR-seq lymphoblastoid silent region 14664 [Gene]
  • LOC129937443:ATAC-STARR-seq lymphoblastoid silent region 14665 [Gene]
  • LOC129937444:ATAC-STARR-seq lymphoblastoid silent region 14666 [Gene]
  • LOC129937448:ATAC-STARR-seq lymphoblastoid silent region 14667 [Gene]
  • LOC129937452:ATAC-STARR-seq lymphoblastoid silent region 14668 [Gene]
  • LOC129937454:ATAC-STARR-seq lymphoblastoid silent region 14669 [Gene]
  • LOC129937455:ATAC-STARR-seq lymphoblastoid silent region 14670 [Gene]
  • LOC129937456:ATAC-STARR-seq lymphoblastoid silent region 14672 [Gene]
  • LOC129937457:ATAC-STARR-seq lymphoblastoid silent region 14673 [Gene]
  • LOC129937460:ATAC-STARR-seq lymphoblastoid silent region 14674 [Gene]
  • LOC129937462:ATAC-STARR-seq lymphoblastoid silent region 14676 [Gene]
  • LOC129937463:ATAC-STARR-seq lymphoblastoid silent region 14677 [Gene]
  • LOC129937464:ATAC-STARR-seq lymphoblastoid silent region 14678 [Gene]
  • LOC129937466:ATAC-STARR-seq lymphoblastoid silent region 14679 [Gene]
  • LOC129937468:ATAC-STARR-seq lymphoblastoid silent region 14680 [Gene]
  • LOC129937472:ATAC-STARR-seq lymphoblastoid silent region 14681 [Gene]
  • LOC129937473:ATAC-STARR-seq lymphoblastoid silent region 14682 [Gene]
  • LOC129937474:ATAC-STARR-seq lymphoblastoid silent region 14683 [Gene]
  • LOC129937477:ATAC-STARR-seq lymphoblastoid silent region 14684 [Gene]
  • LOC129937482:ATAC-STARR-seq lymphoblastoid silent region 14685 [Gene]
  • LOC129937485:ATAC-STARR-seq lymphoblastoid silent region 14686 [Gene]
  • LOC129937486:ATAC-STARR-seq lymphoblastoid silent region 14687 [Gene]
  • LOC129937487:ATAC-STARR-seq lymphoblastoid silent region 14690 [Gene]
  • LOC129937488:ATAC-STARR-seq lymphoblastoid silent region 14692 [Gene]
  • LOC129937489:ATAC-STARR-seq lymphoblastoid silent region 14693 [Gene]
  • LOC129937491:ATAC-STARR-seq lymphoblastoid silent region 14694 [Gene]
  • LOC129937492:ATAC-STARR-seq lymphoblastoid silent region 14695 [Gene]
  • LOC129937493:ATAC-STARR-seq lymphoblastoid silent region 14696 [Gene]
  • LOC129937504:ATAC-STARR-seq lymphoblastoid silent region 14697 [Gene]
  • LOC129937506:ATAC-STARR-seq lymphoblastoid silent region 14699 [Gene]
  • LOC129937507:ATAC-STARR-seq lymphoblastoid silent region 14700 [Gene]
  • LOC129937508:ATAC-STARR-seq lymphoblastoid silent region 14701 [Gene]
  • LOC129937510:ATAC-STARR-seq lymphoblastoid silent region 14702 [Gene]
  • LOC129937512:ATAC-STARR-seq lymphoblastoid silent region 14703 [Gene]
  • LOC129937517:ATAC-STARR-seq lymphoblastoid silent region 14707 [Gene]
  • LOC129937518:ATAC-STARR-seq lymphoblastoid silent region 14708 [Gene]
  • LOC129937521:ATAC-STARR-seq lymphoblastoid silent region 14709 [Gene]
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • B4GALT4-AS1:B4GALT4 antisense RNA 1 [Gene - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • LOC126806777:BRD4-independent group 4 enhancer GRCh37_chr3:115003756-115004955 [Gene]
  • LOC126806778:BRD4-independent group 4 enhancer GRCh37_chr3:116733888-116735087 [Gene]
  • LOC126806781:BRD4-independent group 4 enhancer GRCh37_chr3:119300593-119301792 [Gene]
  • LOC126806784:BRD4-independent group 4 enhancer GRCh37_chr3:119961559-119962758 [Gene]
  • LOC126806786:BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 [Gene]
  • LOC123038161:BRD4-independent group 4 enhancer GRCh37_chr3:121311583-121312782 [Gene]
  • LOC126806793:BRD4-independent group 4 enhancer GRCh37_chr3:123966684-123967883 [Gene]
  • LOC126806794:BRD4-independent group 4 enhancer GRCh37_chr3:124128425-124129624 [Gene]
  • LOC126806801:BRD4-independent group 4 enhancer GRCh37_chr3:126207907-126209106 [Gene]
  • LOC126806803:BRD4-independent group 4 enhancer GRCh37_chr3:127121540-127122739 [Gene]
  • LOC126806804:BRD4-independent group 4 enhancer GRCh37_chr3:127472805-127474004 [Gene]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • CD200R1L-AS1:CD200R1L antisense RNA 1 [Gene - HGNC]
  • CD80:CD80 molecule [Gene - OMIM - HGNC]
  • CD86:CD86 molecule [Gene - OMIM - HGNC]
  • LOC126806780:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:117828563-117829762 [Gene]
  • LOC126806785:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:120085712-120086911 [Gene]
  • LOC126806789:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:122353940-122355139 [Gene]
  • LOC126806792:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 [Gene]
  • LOC126806796:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:124229048-124230247 [Gene]
  • LOC126806799:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:125119796-125120995 [Gene]
  • CFAP100-DT:CFAP100 divergent transcript [Gene - HGNC]
  • CFAP44-AS1:CFAP44 antisense RNA 1 [Gene - HGNC]
  • LOC117038769:CRISPRi-FlowFISH-validated H1-10 regulatory element 1 [Gene]
  • LOC117038771:CRISPRi-FlowFISH-validated H1-10 regulatory element 2 [Gene]
  • LOC117011629:CRISPRi-FlowFISH-validated RPN1 regulatory element 1 [Gene]
  • LOC117038770:CRISPRi-FlowFISH-validated RPN1 regulatory element 2 [Gene]
  • LOC117038772:CRISPRi-FlowFISH-validated RPN1 regulatory element 3 [Gene]
  • LOC115995517:CRISPRi-validated cis-regulatory element chr3.3352 [Gene]
  • LOC115995518:CRISPRi-validated cis-regulatory element chr3.3676 [Gene]
  • LOC115995519:CRISPRi-validated cis-regulatory element chr3.3677 [Gene]
  • LOC115995520:CRISPRi-validated cis-regulatory element chr3.3678 [Gene]
  • LOC115995521:CRISPRi-validated cis-regulatory element chr3.3679 [Gene]
  • POLQ:DNA polymerase theta [Gene - OMIM - HGNC]
  • DNAJB8-AS1:DNAJB8 antisense RNA 1 [Gene - HGNC]
  • DNAJB8:DnaJ heat shock protein family (Hsp40) member B8 [Gene - OMIM - HGNC]
  • EAF2:ELL associated factor 2 [Gene - OMIM - HGNC]
  • FBXO40:F-box protein 40 [Gene - OMIM - HGNC]
  • GPR156:G protein-coupled receptor 156 [Gene - OMIM - HGNC]
  • GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
  • GATA2-AS1:GATA2 antisense RNA 1 [Gene - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - OMIM - HGNC]
  • GSK3B-DT:GSK3B divergent transcript [Gene - HGNC]
  • GTPBP8:GTP binding protein 8 (putative) [Gene - HGNC]
  • LOC111562374:HNF1 motif-containing MPRA enhancer 180 [Gene]
  • LOC111365173:HNF4 motif-containing MPRA enhancer 1/2 [Gene]
  • HSPBAP1:HSPB1 associated protein 1 [Gene - OMIM - HGNC]
  • IGSF11-AS1:IGSF11 antisense RNA 1 [Gene - HGNC]
  • IQCB1:IQ motif containing B1 [Gene - OMIM - HGNC]
  • KLF15:KLF transcription factor 15 [Gene - OMIM - HGNC]
  • LRRC58-DT:LRRC58 divergent transcript [Gene - HGNC]
  • LSAMP-AS1:LSAMP antisense RNA 1 [Gene - HGNC]
  • LOC126806774:MED14-independent group 3 enhancer GRCh37_chr3:112612841-112614040 [Gene]
  • LOC126806775:MED14-independent group 3 enhancer GRCh37_chr3:113993502-113994701 [Gene]
  • LOC126806779:MED14-independent group 3 enhancer GRCh37_chr3:117426868-117428067 [Gene]
  • LOC126806782:MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 [Gene]
  • LOC126806787:MED14-independent group 3 enhancer GRCh37_chr3:121449808-121451007 [Gene]
  • LOC126806788:MED14-independent group 3 enhancer GRCh37_chr3:122215008-122216207 [Gene]
  • LOC126806791:MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 [Gene]
  • LOC126806795:MED14-independent group 3 enhancer GRCh37_chr3:124209527-124210726 [Gene]
  • LOC126806797:MED14-independent group 3 enhancer GRCh37_chr3:124720175-124721374 [Gene]
  • LOC126806800:MED14-independent group 3 enhancer GRCh37_chr3:125926972-125928171 [Gene]
  • LOC126806802:MED14-independent group 3 enhancer GRCh37_chr3:126629966-126631165 [Gene]
  • LOC126806805:MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 [Gene]
  • LOC126806806:MED14-independent group 3 enhancer GRCh37_chr3:128223035-128224234 [Gene]
  • LOC108192211:MGLL intron CAGE-defined high expression enhancer [Gene]
  • LOC129389113:MPRA-validated peak4776 silencer [Gene]
  • LOC129389114:MPRA-validated peak4778 silencer [Gene]
  • LOC129389115:MPRA-validated peak4780 silencer [Gene]
  • LOC129389116:MPRA-validated peak4781 silencer [Gene]
  • LOC129389117:MPRA-validated peak4782 silencer [Gene]
  • LOC129389118:MPRA-validated peak4789 silencer [Gene]
  • LOC129389119:MPRA-validated peak4794 silencer [Gene]
  • LOC129389120:MPRA-validated peak4795 silencer [Gene]
  • LOC129389121:MPRA-validated peak4796 silencer [Gene]
  • LOC129389122:MPRA-validated peak4798 silencer [Gene]
  • LOC129389123:MPRA-validated peak4799 silencer [Gene]
  • LOC129389124:MPRA-validated peak4801 silencer [Gene]
  • LOC129389125:MPRA-validated peak4802 silencer [Gene]
  • LOC129389126:MPRA-validated peak4803 silencer [Gene]
  • LOC129389127:MPRA-validated peak4810 silencer [Gene]
  • LOC129389128:MPRA-validated peak4813 silencer [Gene]
  • LOC129389129:MPRA-validated peak4817 silencer [Gene]
  • LOC129389130:MPRA-validated peak4818 silencer [Gene]
  • LOC129389131:MPRA-validated peak4821 silencer [Gene]
  • MYLK-AS1:MYLK antisense RNA 1 [Gene - HGNC]
  • MYLK-AS2:MYLK antisense RNA 2 [Gene - HGNC]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • NDUFB4:NADH:ubiquinone oxidoreductase subunit B4 [Gene - OMIM - HGNC]
  • NEPRO-AS1:NEPRO antisense RNA 1 [Gene - HGNC]
  • LOC132088861:Neanderthal introgressed variant-containing enhancer experimental_64395 [Gene]
  • LOC132088862:Neanderthal introgressed variant-containing enhancer experimental_64462 [Gene]
  • LOC132088863:Neanderthal introgressed variant-containing enhancer experimental_64577 [Gene]
  • LOC132088864:Neanderthal introgressed variant-containing enhancer experimental_64587 [Gene]
  • LOC123038177:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128287100-128287778 [Gene]
  • LOC126806776:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:114958135-114959334 [Gene]
  • LOC126806783:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:119863928-119865127 [Gene]
  • LOC126806790:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:122387501-122388700 [Gene]
  • LOC126806798:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:124950809-124952008 [Gene]
  • PRR23E:PRR23 family member E [Gene - HGNC]
  • RABL3:RAB, member of RAS oncogene family like 3 [Gene - OMIM - HGNC]
  • RAB7A:RAB7A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUVBL1-AS1:RUVBL1 antisense RNA 1 [Gene - HGNC]
  • ARHGAP31:Rho GTPase activating protein 31 [Gene - OMIM - HGNC]
  • RUVBL1:RuvB like AAA ATPase 1 [Gene - OMIM - HGNC]
  • SEC22A:SEC22 homolog A, vesicle trafficking protein [Gene - OMIM - HGNC]
  • SEC61A1:SEC61 translocon subunit alpha 1 [Gene - OMIM - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • SIDT1-AS1:SIDT1 antisense RNA 1 [Gene - HGNC]
  • LOC127898559:SPICE1-CFAP44 [Gene]
  • LOC112872294:Sharpr-MPRA regulatory region 10510 [Gene]
  • LOC123038176:Sharpr-MPRA regulatory region 10596 [Gene]
  • LOC121009685:Sharpr-MPRA regulatory region 10778 [Gene]
  • LOC123038168:Sharpr-MPRA regulatory region 1093 [Gene]
  • LOC123038164:Sharpr-MPRA regulatory region 1098 [Gene]
  • LOC123038170:Sharpr-MPRA regulatory region 11201 [Gene]
  • LOC123038172:Sharpr-MPRA regulatory region 11416 [Gene]
  • LOC112848344:Sharpr-MPRA regulatory region 12076 [Gene]
  • LOC112848343:Sharpr-MPRA regulatory region 12929 [Gene]
  • LOC123038162:Sharpr-MPRA regulatory region 13157 [Gene]
  • LOC123038167:Sharpr-MPRA regulatory region 13474 [Gene]
  • LOC112872290:Sharpr-MPRA regulatory region 13833 [Gene]
  • LOC121725153:Sharpr-MPRA regulatory region 15271 [Gene]
  • LOC112872295:Sharpr-MPRA regulatory region 1791 [Gene]
  • LOC112872296:Sharpr-MPRA regulatory region 2719 [Gene]
  • LOC123038174:Sharpr-MPRA regulatory region 3031 [Gene]
  • LOC123038171:Sharpr-MPRA regulatory region 3038 [Gene]
  • LOC112872292:Sharpr-MPRA regulatory region 30 [Gene]
  • LOC112872298:Sharpr-MPRA regulatory region 3129 [Gene]
  • LOC123002331:Sharpr-MPRA regulatory region 3247 [Gene]
  • LOC123038158:Sharpr-MPRA regulatory region 3599 [Gene]
  • LOC123038169:Sharpr-MPRA regulatory region 387 [Gene]
  • LOC112872297:Sharpr-MPRA regulatory region 421 [Gene]
  • LOC121045485:Sharpr-MPRA regulatory region 5176 [Gene]
  • LOC121725154:Sharpr-MPRA regulatory region 5497 [Gene]
  • LOC112872291:Sharpr-MPRA regulatory region 5916 [Gene]
  • LOC112872293:Sharpr-MPRA regulatory region 6303 [Gene]
  • LOC123038159:Sharpr-MPRA regulatory region 6621 [Gene]
  • LOC123038160:Sharpr-MPRA regulatory region 6912 [Gene]
  • LOC123038165:Sharpr-MPRA regulatory region 831 [Gene]
  • LOC123038173:Sharpr-MPRA regulatory region 8761 [Gene]
  • LOC123038166:Sharpr-MPRA regulatory region 8988 [Gene]
  • LOC123038163:Sharpr-MPRA regulatory region 9008 [Gene]
  • LOC121009684:Sharpr-MPRA regulatory region 9344 [Gene]
  • LOC111828514:Sharpr-MPRA regulatory regions 1012 and 11425 [Gene]
  • LOC123038175:Sharpr-MPRA regulatory regions 13692 and 14760 [Gene]
  • LOC121045486:Sharpr-MPRA regulatory regions 9818 and 11773 [Gene]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • LOC110121175:VISTA enhancer hs1648 [Gene]
  • LOC110121187:VISTA enhancer hs1685 [Gene]
  • LOC110120631:VISTA enhancer hs253 [Gene]
  • WDR5B:WD repeat domain 5B [Gene - HGNC]
  • WDR5B-DT:WDR5B divergent transcript [Gene - HGNC]
  • ZBTB20-AS1:ZBTB20 antisense RNA 1 [Gene - HGNC]
  • ZBTB20-AS3:ZBTB20 antisense RNA 3 [Gene - HGNC]
  • ZBTB20-AS4:ZBTB20 antisense RNA 4 [Gene - HGNC]
  • ZBTB20-AS5:ZBTB20 antisense RNA 5 [Gene - HGNC]
  • LOC111255649:ZNF80-LTR promoter [Gene]
  • ZXDC:ZXD family zinc finger C [Gene - OMIM - HGNC]
  • ADCY5:adenylate cyclase 5 [Gene - OMIM - HGNC]
  • ALDH1L1:aldehyde dehydrogenase 1 family member L1 [Gene - OMIM - HGNC]
  • ABTB1:ankyrin repeat and BTB domain containing 1 [Gene - OMIM - HGNC]
  • ARGFX:arginine-fifty homeobox [Gene - OMIM - HGNC]
  • B4GALT4:beta-1,4-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • CASR:calcium sensing receptor [Gene - OMIM - HGNC]
  • CHST13:carbohydrate sulfotransferase 13 [Gene - OMIM - HGNC]
  • C3orf22:chromosome 3 open reading frame 22 [Gene - HGNC]
  • CFAP100:cilia and flagella associated protein 100 [Gene - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CFAP91:cilia and flagella associated protein 91 [Gene - OMIM - HGNC]
  • CCDC14:coiled-coil domain containing 14 [Gene - OMIM - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • CHCHD6:coiled-coil-helix-coiled-coil-helix domain containing 6 [Gene - OMIM - HGNC]
  • CSTA:cystatin A [Gene - OMIM - HGNC]
  • COX17:cytochrome c oxidase copper chaperone COX17 [Gene - OMIM - HGNC]
  • DTX3L:deltex E3 ubiquitin ligase 3L [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • EEFSEC:eukaryotic elongation factor, selenocysteine-tRNA specific [Gene - OMIM - HGNC]
  • FAM162A:family with sequence similarity 162 member A [Gene - OMIM - HGNC]
  • FSTL1:follistatin like 1 [Gene - OMIM - HGNC]
  • GTF2E1:general transcription factor IIE subunit 1 [Gene - OMIM - HGNC]
  • GSK3B:glycogen synthase kinase 3 beta [Gene - OMIM - HGNC]
  • GOLGB1:golgin B1 [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • HEG1:heart development protein with EGF like domains 1 [Gene - OMIM - HGNC]
  • HCLS1:hematopoietic cell-specific Lyn substrate 1 [Gene - OMIM - HGNC]
  • HGD:homogentisate 1,2-dioxygenase [Gene - OMIM - HGNC]
  • ILDR1:immunoglobulin like domain containing receptor 1 [Gene - OMIM - HGNC]
  • IGSF11:immunoglobulin superfamily member 11 [Gene - OMIM - HGNC]
  • ITGB5:integrin subunit beta 5 [Gene - OMIM - HGNC]
  • KALRN:kalirin RhoGEF kinase [Gene - OMIM - HGNC]
  • KPNA1:karyopherin subunit alpha 1 [Gene - OMIM - HGNC]
  • KBTBD12:kelch repeat and BTB domain containing 12 [Gene - HGNC]
  • LRRC58:leucine rich repeat containing 58 [Gene - HGNC]
  • LSAMP:limbic system associated membrane protein [Gene - OMIM - HGNC]
  • LINC01471:long intergenic non-protein coding RNA 1471 [Gene - HGNC]
  • LINC01565:long intergenic non-protein coding RNA 1565 [Gene - OMIM - HGNC]
  • LINC02016:long intergenic non-protein coding RNA 2016 [Gene - HGNC]
  • LINC02024:long intergenic non-protein coding RNA 2024 [Gene - HGNC]
  • LINC02035:long intergenic non-protein coding RNA 2035 [Gene - HGNC]
  • LINC02042:long intergenic non-protein coding RNA 2042 [Gene - HGNC]
  • LINC02044:long intergenic non-protein coding RNA 2044 [Gene - HGNC]
  • LINC02049:long intergenic non-protein coding RNA 2049 [Gene - HGNC]
  • LINC02614:long intergenic non-protein coding RNA 2614 [Gene - HGNC]
  • LINC03051:long intergenic non-protein coding RNA 3051 [Gene - HGNC]
  • LINC00901:long intergenic non-protein coding RNA 901 [Gene - HGNC]
  • LINC00903:long intergenic non-protein coding RNA 903 [Gene - HGNC]
  • MIR198:microRNA 198 [Gene - HGNC]
  • MIR4446:microRNA 4446 [Gene - HGNC]
  • MIR4447:microRNA 4447 [Gene - HGNC]
  • MIR4796:microRNA 4796 [Gene - HGNC]
  • MIR5002:microRNA 5002 [Gene - HGNC]
  • MIR5092:microRNA 5092 [Gene - HGNC]
  • MIR544B:microRNA 544b [Gene - HGNC]
  • MIR548I1:microRNA 548i-1 [Gene - HGNC]
  • MIR5682:microRNA 5682 [Gene - HGNC]
  • MIR568:microRNA 568 [Gene - HGNC]
  • MIR6083:microRNA 6083 [Gene - HGNC]
  • MIR6529:microRNA 6529 [Gene - HGNC]
  • MIR6825:microRNA 6825 [Gene - HGNC]
  • MIR7110:microRNA 7110 [Gene - HGNC]
  • MIR7976:microRNA 7976 [Gene - HGNC]
  • MIR8076:microRNA 8076 [Gene - HGNC]
  • MIR9900:microRNA 9900 [Gene - HGNC]
  • MCM2:minichromosome maintenance complex component 2 [Gene - OMIM - HGNC]
  • MIX23:mitochondrial matrix import factor 23 [Gene - OMIM - HGNC]
  • MGLL:monoglyceride lipase [Gene - OMIM - HGNC]
  • MUC13:mucin 13, cell surface associated [Gene - OMIM - HGNC]
  • MYLK:myosin light chain kinase [Gene - OMIM - HGNC]
  • NR1I2:nuclear receptor subfamily 1 group I member 2 [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • OSBPL11:oxysterol binding protein like 11 [Gene - OMIM - HGNC]
  • PLA1A:phospholipase A1 member A [Gene - OMIM - HGNC]
  • PLXNA1:plexin A1 [Gene - OMIM - HGNC]
  • PODXL2:podocalyxin like 2 [Gene - OMIM - HGNC]
  • PARP14:poly(ADP-ribose) polymerase family member 14 [Gene - OMIM - HGNC]
  • PARP15:poly(ADP-ribose) polymerase family member 15 [Gene - OMIM - HGNC]
  • PARP9:poly(ADP-ribose) polymerase family member 9 [Gene - OMIM - HGNC]
  • POPDC2:popeye domain containing 2 [Gene - OMIM - HGNC]
  • PRR20G:proline rich 20G [Gene - HGNC]
  • POGLUT1:protein O-glucosyltransferase 1 [Gene - OMIM - HGNC]
  • PDIA5:protein disulfide isomerase family A member 5 [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • ROPN1:rhophilin associated tail protein 1 [Gene - OMIM - HGNC]
  • ROPN1B:rhophilin associated tail protein 1B [Gene - HGNC]
  • RPN1:ribophorin I [Gene - OMIM - HGNC]
  • SEMA5B:semaphorin 5B [Gene - OMIM - HGNC]
  • SNORD155:small nucleolar RNA, C/D box 155 [Gene - HGNC]
  • SLC12A8:solute carrier family 12 member 8 [Gene - OMIM - HGNC]
  • SLC15A2:solute carrier family 15 member 2 [Gene - OMIM - HGNC]
  • SLC41A3:solute carrier family 41 member 3 [Gene - OMIM - HGNC]
  • SLC49A4:solute carrier family 49 member 4 [Gene - OMIM - HGNC]
  • SNX4:sorting nexin 4 [Gene - OMIM - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • STXBP5L:syntaxin binding protein 5L [Gene - OMIM - HGNC]
  • TEX55:testis expressed 55 [Gene - HGNC]
  • TXNRD3NB:thioredoxin reductase 3 neighbor [Gene - HGNC]
  • TXNRD3:thioredoxin reductase 3 [Gene - OMIM - HGNC]
  • TIMMDC1:translocase of inner mitochondrial membrane domain containing 1 [Gene - OMIM - HGNC]
  • TMEM39A:transmembrane protein 39A [Gene - HGNC]
  • TPRA1:transmembrane protein adipocyte associated 1 [Gene - OMIM - HGNC]
  • TUSC7:tumor suppressor candidate 7 [Gene - OMIM - HGNC]
  • LOC101926953:uncharacterized LOC101926953 [Gene]
  • LOC101926968:uncharacterized LOC101926968 [Gene]
  • LOC105374060:uncharacterized LOC105374060 [Gene]
  • LOC105374312:uncharacterized LOC105374312 [Gene]
  • LOC90246:uncharacterized LOC90246 [Gene]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • UMPS:uridine monophosphate synthetase [Gene - OMIM - HGNC]
  • UROC1:urocanate hydratase 1 [Gene - OMIM - HGNC]
  • UPK1B:uroplakin 1B [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF148:zinc finger protein 148 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q13.2-21.3
Genomic location:
Preferred name:
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1
HGVS:
  • NC_000003.12:g.(?_112620977)_(128734134_?)del
  • NC_000003.10:g.(?_113822514)_(129935667_?)del
  • NC_000003.11:g.(?_112339824)_(128452977_?)del
Links:
dbVar: nssv1602963; dbVar: nsv916389
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
SCV000179513ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 14, 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, SCV000179513.4

#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