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GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 14, 2013
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:
RCV000141254.6

Allele description [Variation Report for GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1]

GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1

Genes:
  • ATIC:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase [Gene - OMIM - HGNC]
  • ADAM23:ADAM metallopeptidase domain 23 [Gene - OMIM - HGNC]
  • ANKRD44-AS1:ANKRD44 antisense RNA 1 [Gene - HGNC]
  • ANKRD44-IT1:ANKRD44 intronic transcript 1 [Gene - HGNC]
  • LOC108281167:AOX3P-AOX2P intron CAGE-defined mid-level expression enhancer [Gene]
  • LOC129935294:ATAC-STARR-seq lymphoblastoid active region 16885 [Gene]
  • LOC129935295:ATAC-STARR-seq lymphoblastoid active region 16886 [Gene]
  • LOC129935296:ATAC-STARR-seq lymphoblastoid active region 16887 [Gene]
  • LOC129935297:ATAC-STARR-seq lymphoblastoid active region 16888 [Gene]
  • LOC129935298:ATAC-STARR-seq lymphoblastoid active region 16889 [Gene]
  • LOC129935302:ATAC-STARR-seq lymphoblastoid active region 16890 [Gene]
  • LOC129935303:ATAC-STARR-seq lymphoblastoid active region 16891 [Gene]
  • LOC129935304:ATAC-STARR-seq lymphoblastoid active region 16892 [Gene]
  • LOC129935305:ATAC-STARR-seq lymphoblastoid active region 16893 [Gene]
  • LOC129935306:ATAC-STARR-seq lymphoblastoid active region 16894 [Gene]
  • LOC129935307:ATAC-STARR-seq lymphoblastoid active region 16895 [Gene]
  • LOC129935308:ATAC-STARR-seq lymphoblastoid active region 16896 [Gene]
  • LOC129935311:ATAC-STARR-seq lymphoblastoid active region 16897 [Gene]
  • LOC129935312:ATAC-STARR-seq lymphoblastoid active region 16898 [Gene]
  • LOC129935313:ATAC-STARR-seq lymphoblastoid active region 16899 [Gene]
  • LOC129935314:ATAC-STARR-seq lymphoblastoid active region 16900 [Gene]
  • LOC129935315:ATAC-STARR-seq lymphoblastoid active region 16901 [Gene]
  • LOC129935316:ATAC-STARR-seq lymphoblastoid active region 16902 [Gene]
  • LOC129935317:ATAC-STARR-seq lymphoblastoid active region 16903 [Gene]
  • LOC129935318:ATAC-STARR-seq lymphoblastoid active region 16904 [Gene]
  • LOC129935319:ATAC-STARR-seq lymphoblastoid active region 16905 [Gene]
  • LOC129935320:ATAC-STARR-seq lymphoblastoid active region 16906 [Gene]
  • LOC129935321:ATAC-STARR-seq lymphoblastoid active region 16907 [Gene]
  • LOC129935322:ATAC-STARR-seq lymphoblastoid active region 16908 [Gene]
  • LOC129935323:ATAC-STARR-seq lymphoblastoid active region 16909 [Gene]
  • LOC129935326:ATAC-STARR-seq lymphoblastoid active region 16910 [Gene]
  • LOC129935327:ATAC-STARR-seq lymphoblastoid active region 16911 [Gene]
  • LOC129935328:ATAC-STARR-seq lymphoblastoid active region 16912 [Gene]
  • LOC129935329:ATAC-STARR-seq lymphoblastoid active region 16913 [Gene]
  • LOC129935330:ATAC-STARR-seq lymphoblastoid active region 16914 [Gene]
  • LOC129935331:ATAC-STARR-seq lymphoblastoid active region 16915 [Gene]
  • LOC129935334:ATAC-STARR-seq lymphoblastoid active region 16916 [Gene]
  • LOC129935335:ATAC-STARR-seq lymphoblastoid active region 16917 [Gene]
  • LOC129935336:ATAC-STARR-seq lymphoblastoid active region 16918 [Gene]
  • LOC129935337:ATAC-STARR-seq lymphoblastoid active region 16919 [Gene]
  • LOC129935338:ATAC-STARR-seq lymphoblastoid active region 16920 [Gene]
  • LOC129935340:ATAC-STARR-seq lymphoblastoid active region 16921 [Gene]
  • LOC129935341:ATAC-STARR-seq lymphoblastoid active region 16922 [Gene]
  • LOC129935342:ATAC-STARR-seq lymphoblastoid active region 16923 [Gene]
  • LOC129935343:ATAC-STARR-seq lymphoblastoid active region 16924 [Gene]
  • LOC129935344:ATAC-STARR-seq lymphoblastoid active region 16925 [Gene]
  • LOC129935346:ATAC-STARR-seq lymphoblastoid active region 16926 [Gene]
  • LOC129935347:ATAC-STARR-seq lymphoblastoid active region 16927 [Gene]
  • LOC129935348:ATAC-STARR-seq lymphoblastoid active region 16928 [Gene]
  • LOC129935349:ATAC-STARR-seq lymphoblastoid active region 16929 [Gene]
  • LOC129935350:ATAC-STARR-seq lymphoblastoid active region 16930 [Gene]
  • LOC129935351:ATAC-STARR-seq lymphoblastoid active region 16931 [Gene]
  • LOC129935355:ATAC-STARR-seq lymphoblastoid active region 16934 [Gene]
  • LOC129935356:ATAC-STARR-seq lymphoblastoid active region 16935 [Gene]
  • LOC129935357:ATAC-STARR-seq lymphoblastoid active region 16938 [Gene]
  • LOC129935360:ATAC-STARR-seq lymphoblastoid active region 16939 [Gene]
  • LOC129935362:ATAC-STARR-seq lymphoblastoid active region 16940 [Gene]
  • LOC129935363:ATAC-STARR-seq lymphoblastoid active region 16941 [Gene]
  • LOC129935365:ATAC-STARR-seq lymphoblastoid active region 16942 [Gene]
  • LOC129935366:ATAC-STARR-seq lymphoblastoid active region 16943 [Gene]
  • LOC129935367:ATAC-STARR-seq lymphoblastoid active region 16944 [Gene]
  • LOC129935369:ATAC-STARR-seq lymphoblastoid active region 16945 [Gene]
  • LOC129935370:ATAC-STARR-seq lymphoblastoid active region 16946 [Gene]
  • LOC129935371:ATAC-STARR-seq lymphoblastoid active region 16947 [Gene]
  • LOC129935372:ATAC-STARR-seq lymphoblastoid active region 16948 [Gene]
  • LOC129935373:ATAC-STARR-seq lymphoblastoid active region 16949 [Gene]
  • LOC129935377:ATAC-STARR-seq lymphoblastoid active region 16950 [Gene]
  • LOC129935378:ATAC-STARR-seq lymphoblastoid active region 16955 [Gene]
  • LOC129935381:ATAC-STARR-seq lymphoblastoid active region 16956 [Gene]
  • LOC129935382:ATAC-STARR-seq lymphoblastoid active region 16957 [Gene]
  • LOC129935383:ATAC-STARR-seq lymphoblastoid active region 16958 [Gene]
  • LOC129935384:ATAC-STARR-seq lymphoblastoid active region 16959 [Gene]
  • LOC129935385:ATAC-STARR-seq lymphoblastoid active region 16960 [Gene]
  • LOC129935388:ATAC-STARR-seq lymphoblastoid active region 16961 [Gene]
  • LOC129935389:ATAC-STARR-seq lymphoblastoid active region 16962 [Gene]
  • LOC129935391:ATAC-STARR-seq lymphoblastoid active region 16963 [Gene]
  • LOC129935392:ATAC-STARR-seq lymphoblastoid active region 16964 [Gene]
  • LOC129935393:ATAC-STARR-seq lymphoblastoid active region 16965 [Gene]
  • LOC129935394:ATAC-STARR-seq lymphoblastoid active region 16968 [Gene]
  • LOC129935395:ATAC-STARR-seq lymphoblastoid active region 16969 [Gene]
  • LOC129935396:ATAC-STARR-seq lymphoblastoid active region 16970 [Gene]
  • LOC129935397:ATAC-STARR-seq lymphoblastoid active region 16971 [Gene]
  • LOC129935398:ATAC-STARR-seq lymphoblastoid active region 16974 [Gene]
  • LOC129935400:ATAC-STARR-seq lymphoblastoid active region 16975 [Gene]
  • LOC129935402:ATAC-STARR-seq lymphoblastoid active region 16978 [Gene]
  • LOC129935403:ATAC-STARR-seq lymphoblastoid active region 16979 [Gene]
  • LOC129935404:ATAC-STARR-seq lymphoblastoid active region 16980 [Gene]
  • LOC129935405:ATAC-STARR-seq lymphoblastoid active region 16981 [Gene]
  • LOC129935406:ATAC-STARR-seq lymphoblastoid active region 16982 [Gene]
  • LOC129935407:ATAC-STARR-seq lymphoblastoid active region 16983 [Gene]
  • LOC129935408:ATAC-STARR-seq lymphoblastoid active region 16984 [Gene]
  • LOC129935409:ATAC-STARR-seq lymphoblastoid active region 16985 [Gene]
  • LOC129935410:ATAC-STARR-seq lymphoblastoid active region 16986 [Gene]
  • LOC129935411:ATAC-STARR-seq lymphoblastoid active region 16988 [Gene]
  • LOC129935412:ATAC-STARR-seq lymphoblastoid active region 16989 [Gene]
  • LOC129935413:ATAC-STARR-seq lymphoblastoid active region 16990 [Gene]
  • LOC129935419:ATAC-STARR-seq lymphoblastoid active region 16992 [Gene]
  • LOC129935420:ATAC-STARR-seq lymphoblastoid active region 16993 [Gene]
  • LOC129935421:ATAC-STARR-seq lymphoblastoid active region 16994 [Gene]
  • LOC129935423:ATAC-STARR-seq lymphoblastoid active region 16995 [Gene]
  • LOC129935426:ATAC-STARR-seq lymphoblastoid active region 16997 [Gene]
  • LOC129935427:ATAC-STARR-seq lymphoblastoid active region 16998 [Gene]
  • LOC129935429:ATAC-STARR-seq lymphoblastoid active region 16999 [Gene]
  • LOC129935430:ATAC-STARR-seq lymphoblastoid active region 17000 [Gene]
  • LOC129935435:ATAC-STARR-seq lymphoblastoid active region 17001 [Gene]
  • LOC129935437:ATAC-STARR-seq lymphoblastoid active region 17002 [Gene]
  • LOC129935441:ATAC-STARR-seq lymphoblastoid active region 17003 [Gene]
  • LOC129935445:ATAC-STARR-seq lymphoblastoid active region 17004 [Gene]
  • LOC129935446:ATAC-STARR-seq lymphoblastoid active region 17005 [Gene]
  • LOC129935447:ATAC-STARR-seq lymphoblastoid active region 17006 [Gene]
  • LOC129935448:ATAC-STARR-seq lymphoblastoid active region 17007 [Gene]
  • LOC129935449:ATAC-STARR-seq lymphoblastoid active region 17008 [Gene]
  • LOC129935450:ATAC-STARR-seq lymphoblastoid active region 17009 [Gene]
  • LOC129935453:ATAC-STARR-seq lymphoblastoid active region 17011 [Gene]
  • LOC129935457:ATAC-STARR-seq lymphoblastoid active region 17012 [Gene]
  • LOC129935458:ATAC-STARR-seq lymphoblastoid active region 17013 [Gene]
  • LOC129935459:ATAC-STARR-seq lymphoblastoid active region 17014 [Gene]
  • LOC129935460:ATAC-STARR-seq lymphoblastoid active region 17015 [Gene]
  • LOC129935461:ATAC-STARR-seq lymphoblastoid active region 17016 [Gene]
  • LOC129935463:ATAC-STARR-seq lymphoblastoid active region 17017 [Gene]
  • LOC129935466:ATAC-STARR-seq lymphoblastoid active region 17018 [Gene]
  • LOC129935467:ATAC-STARR-seq lymphoblastoid active region 17019 [Gene]
  • LOC129935468:ATAC-STARR-seq lymphoblastoid active region 17020 [Gene]
  • LOC129935469:ATAC-STARR-seq lymphoblastoid active region 17021 [Gene]
  • LOC129935473:ATAC-STARR-seq lymphoblastoid active region 17025 [Gene]
  • LOC129935474:ATAC-STARR-seq lymphoblastoid active region 17026 [Gene]
  • LOC129935478:ATAC-STARR-seq lymphoblastoid active region 17027 [Gene]
  • LOC129935479:ATAC-STARR-seq lymphoblastoid active region 17028 [Gene]
  • LOC129935481:ATAC-STARR-seq lymphoblastoid active region 17029 [Gene]
  • LOC129935483:ATAC-STARR-seq lymphoblastoid active region 17030 [Gene]
  • LOC129935484:ATAC-STARR-seq lymphoblastoid active region 17031 [Gene]
  • LOC129935485:ATAC-STARR-seq lymphoblastoid active region 17032 [Gene]
  • LOC129935487:ATAC-STARR-seq lymphoblastoid active region 17033 [Gene]
  • LOC129935488:ATAC-STARR-seq lymphoblastoid active region 17034 [Gene]
  • LOC129935489:ATAC-STARR-seq lymphoblastoid active region 17035 [Gene]
  • LOC129935490:ATAC-STARR-seq lymphoblastoid active region 17036 [Gene]
  • LOC129935491:ATAC-STARR-seq lymphoblastoid active region 17037 [Gene]
  • LOC129935493:ATAC-STARR-seq lymphoblastoid active region 17038 [Gene]
  • LOC129935494:ATAC-STARR-seq lymphoblastoid active region 17039 [Gene]
  • LOC129935497:ATAC-STARR-seq lymphoblastoid active region 17040 [Gene]
  • LOC129935498:ATAC-STARR-seq lymphoblastoid active region 17041 [Gene]
  • LOC129935502:ATAC-STARR-seq lymphoblastoid active region 17042 [Gene]
  • LOC129935504:ATAC-STARR-seq lymphoblastoid active region 17043 [Gene]
  • LOC129935505:ATAC-STARR-seq lymphoblastoid active region 17044 [Gene]
  • LOC129935510:ATAC-STARR-seq lymphoblastoid active region 17045 [Gene]
  • LOC129935511:ATAC-STARR-seq lymphoblastoid active region 17046 [Gene]
  • LOC129935512:ATAC-STARR-seq lymphoblastoid active region 17047 [Gene]
  • LOC129935513:ATAC-STARR-seq lymphoblastoid active region 17048 [Gene]
  • LOC129935514:ATAC-STARR-seq lymphoblastoid active region 17049 [Gene]
  • LOC129935515:ATAC-STARR-seq lymphoblastoid active region 17050 [Gene]
  • LOC129935517:ATAC-STARR-seq lymphoblastoid active region 17051 [Gene]
  • LOC129935519:ATAC-STARR-seq lymphoblastoid active region 17052 [Gene]
  • LOC129935522:ATAC-STARR-seq lymphoblastoid active region 17053 [Gene]
  • LOC129935523:ATAC-STARR-seq lymphoblastoid active region 17054 [Gene]
  • LOC129935524:ATAC-STARR-seq lymphoblastoid active region 17056 [Gene]
  • LOC129935525:ATAC-STARR-seq lymphoblastoid active region 17057 [Gene]
  • LOC129935526:ATAC-STARR-seq lymphoblastoid active region 17058 [Gene]
  • LOC129935527:ATAC-STARR-seq lymphoblastoid active region 17059 [Gene]
  • LOC129935528:ATAC-STARR-seq lymphoblastoid active region 17060 [Gene]
  • LOC129935529:ATAC-STARR-seq lymphoblastoid active region 17061 [Gene]
  • LOC129935532:ATAC-STARR-seq lymphoblastoid active region 17062 [Gene]
  • LOC129935533:ATAC-STARR-seq lymphoblastoid active region 17063 [Gene]
  • LOC129935534:ATAC-STARR-seq lymphoblastoid active region 17064 [Gene]
  • LOC129935535:ATAC-STARR-seq lymphoblastoid active region 17065 [Gene]
  • LOC129935536:ATAC-STARR-seq lymphoblastoid active region 17066 [Gene]
  • LOC129935537:ATAC-STARR-seq lymphoblastoid active region 17067 [Gene]
  • LOC129935538:ATAC-STARR-seq lymphoblastoid active region 17068 [Gene]
  • LOC129935539:ATAC-STARR-seq lymphoblastoid active region 17069 [Gene]
  • LOC129935540:ATAC-STARR-seq lymphoblastoid active region 17070 [Gene]
  • LOC129935541:ATAC-STARR-seq lymphoblastoid active region 17071 [Gene]
  • LOC129935542:ATAC-STARR-seq lymphoblastoid active region 17072 [Gene]
  • LOC129935543:ATAC-STARR-seq lymphoblastoid active region 17073 [Gene]
  • LOC129935293:ATAC-STARR-seq lymphoblastoid silent region 12198 [Gene]
  • LOC129935299:ATAC-STARR-seq lymphoblastoid silent region 12199 [Gene]
  • LOC129935300:ATAC-STARR-seq lymphoblastoid silent region 12200 [Gene]
  • LOC129935301:ATAC-STARR-seq lymphoblastoid silent region 12201 [Gene]
  • LOC129935309:ATAC-STARR-seq lymphoblastoid silent region 12202 [Gene]
  • LOC129935310:ATAC-STARR-seq lymphoblastoid silent region 12203 [Gene]
  • LOC129935324:ATAC-STARR-seq lymphoblastoid silent region 12204 [Gene]
  • LOC129935325:ATAC-STARR-seq lymphoblastoid silent region 12205 [Gene]
  • LOC129935332:ATAC-STARR-seq lymphoblastoid silent region 12206 [Gene]
  • LOC129935333:ATAC-STARR-seq lymphoblastoid silent region 12207 [Gene]
  • LOC129935339:ATAC-STARR-seq lymphoblastoid silent region 12208 [Gene]
  • LOC129935345:ATAC-STARR-seq lymphoblastoid silent region 12209 [Gene]
  • LOC129935352:ATAC-STARR-seq lymphoblastoid silent region 12210 [Gene]
  • LOC129935353:ATAC-STARR-seq lymphoblastoid silent region 12211 [Gene]
  • LOC129935354:ATAC-STARR-seq lymphoblastoid silent region 12212 [Gene]
  • LOC129935358:ATAC-STARR-seq lymphoblastoid silent region 12213 [Gene]
  • LOC129935359:ATAC-STARR-seq lymphoblastoid silent region 12214 [Gene]
  • LOC129935361:ATAC-STARR-seq lymphoblastoid silent region 12215 [Gene]
  • LOC129935364:ATAC-STARR-seq lymphoblastoid silent region 12216 [Gene]
  • LOC129935368:ATAC-STARR-seq lymphoblastoid silent region 12217 [Gene]
  • LOC129935374:ATAC-STARR-seq lymphoblastoid silent region 12218 [Gene]
  • LOC129935375:ATAC-STARR-seq lymphoblastoid silent region 12219 [Gene]
  • LOC129935376:ATAC-STARR-seq lymphoblastoid silent region 12220 [Gene]
  • LOC129935379:ATAC-STARR-seq lymphoblastoid silent region 12223 [Gene]
  • LOC129935380:ATAC-STARR-seq lymphoblastoid silent region 12224 [Gene]
  • LOC129935386:ATAC-STARR-seq lymphoblastoid silent region 12225 [Gene]
  • LOC129935387:ATAC-STARR-seq lymphoblastoid silent region 12226 [Gene]
  • LOC129935390:ATAC-STARR-seq lymphoblastoid silent region 12227 [Gene]
  • LOC129935399:ATAC-STARR-seq lymphoblastoid silent region 12229 [Gene]
  • LOC129935401:ATAC-STARR-seq lymphoblastoid silent region 12230 [Gene]
  • LOC129935414:ATAC-STARR-seq lymphoblastoid silent region 12232 [Gene]
  • LOC129935415:ATAC-STARR-seq lymphoblastoid silent region 12233 [Gene]
  • LOC129935416:ATAC-STARR-seq lymphoblastoid silent region 12234 [Gene]
  • LOC129935417:ATAC-STARR-seq lymphoblastoid silent region 12235 [Gene]
  • LOC129935418:ATAC-STARR-seq lymphoblastoid silent region 12236 [Gene]
  • LOC129935422:ATAC-STARR-seq lymphoblastoid silent region 12237 [Gene]
  • LOC129935424:ATAC-STARR-seq lymphoblastoid silent region 12238 [Gene]
  • LOC129935425:ATAC-STARR-seq lymphoblastoid silent region 12239 [Gene]
  • LOC129935428:ATAC-STARR-seq lymphoblastoid silent region 12240 [Gene]
  • LOC129935431:ATAC-STARR-seq lymphoblastoid silent region 12241 [Gene]
  • LOC129935432:ATAC-STARR-seq lymphoblastoid silent region 12242 [Gene]
  • LOC129935433:ATAC-STARR-seq lymphoblastoid silent region 12243 [Gene]
  • LOC129935434:ATAC-STARR-seq lymphoblastoid silent region 12244 [Gene]
  • LOC129935436:ATAC-STARR-seq lymphoblastoid silent region 12245 [Gene]
  • LOC129935438:ATAC-STARR-seq lymphoblastoid silent region 12246 [Gene]
  • LOC129935439:ATAC-STARR-seq lymphoblastoid silent region 12247 [Gene]
  • LOC129935440:ATAC-STARR-seq lymphoblastoid silent region 12248 [Gene]
  • LOC129935442:ATAC-STARR-seq lymphoblastoid silent region 12249 [Gene]
  • LOC129935443:ATAC-STARR-seq lymphoblastoid silent region 12250 [Gene]
  • LOC129935444:ATAC-STARR-seq lymphoblastoid silent region 12251 [Gene]
  • LOC129935451:ATAC-STARR-seq lymphoblastoid silent region 12253 [Gene]
  • LOC129935452:ATAC-STARR-seq lymphoblastoid silent region 12255 [Gene]
  • LOC129935454:ATAC-STARR-seq lymphoblastoid silent region 12256 [Gene]
  • LOC129935455:ATAC-STARR-seq lymphoblastoid silent region 12257 [Gene]
  • LOC129935456:ATAC-STARR-seq lymphoblastoid silent region 12258 [Gene]
  • LOC129935462:ATAC-STARR-seq lymphoblastoid silent region 12259 [Gene]
  • LOC129935464:ATAC-STARR-seq lymphoblastoid silent region 12260 [Gene]
  • LOC129935465:ATAC-STARR-seq lymphoblastoid silent region 12261 [Gene]
  • LOC129935470:ATAC-STARR-seq lymphoblastoid silent region 12263 [Gene]
  • LOC129935471:ATAC-STARR-seq lymphoblastoid silent region 12264 [Gene]
  • LOC129935472:ATAC-STARR-seq lymphoblastoid silent region 12265 [Gene]
  • LOC129935475:ATAC-STARR-seq lymphoblastoid silent region 12266 [Gene]
  • LOC129935476:ATAC-STARR-seq lymphoblastoid silent region 12267 [Gene]
  • LOC129935477:ATAC-STARR-seq lymphoblastoid silent region 12269 [Gene]
  • LOC129935480:ATAC-STARR-seq lymphoblastoid silent region 12270 [Gene]
  • LOC129935482:ATAC-STARR-seq lymphoblastoid silent region 12271 [Gene]
  • LOC129935486:ATAC-STARR-seq lymphoblastoid silent region 12274 [Gene]
  • LOC129935492:ATAC-STARR-seq lymphoblastoid silent region 12275 [Gene]
  • LOC129935495:ATAC-STARR-seq lymphoblastoid silent region 12276 [Gene]
  • LOC129935496:ATAC-STARR-seq lymphoblastoid silent region 12277 [Gene]
  • LOC129935499:ATAC-STARR-seq lymphoblastoid silent region 12278 [Gene]
  • LOC129935500:ATAC-STARR-seq lymphoblastoid silent region 12279 [Gene]
  • LOC129935501:ATAC-STARR-seq lymphoblastoid silent region 12280 [Gene]
  • LOC129935503:ATAC-STARR-seq lymphoblastoid silent region 12281 [Gene]
  • LOC129935506:ATAC-STARR-seq lymphoblastoid silent region 12284 [Gene]
  • LOC129935507:ATAC-STARR-seq lymphoblastoid silent region 12285 [Gene]
  • LOC129935508:ATAC-STARR-seq lymphoblastoid silent region 12286 [Gene]
  • LOC129935509:ATAC-STARR-seq lymphoblastoid silent region 12287 [Gene]
  • LOC129935516:ATAC-STARR-seq lymphoblastoid silent region 12288 [Gene]
  • LOC129935518:ATAC-STARR-seq lymphoblastoid silent region 12289 [Gene]
  • LOC129935520:ATAC-STARR-seq lymphoblastoid silent region 12290 [Gene]
  • LOC129935521:ATAC-STARR-seq lymphoblastoid silent region 12291 [Gene]
  • LOC129935530:ATAC-STARR-seq lymphoblastoid silent region 12294 [Gene]
  • LOC129935531:ATAC-STARR-seq lymphoblastoid silent region 12295 [Gene]
  • LOC129935544:ATAC-STARR-seq lymphoblastoid silent region 12296 [Gene]
  • LOC129935545:ATAC-STARR-seq lymphoblastoid silent region 12299 [Gene]
  • LOC129935546:ATAC-STARR-seq lymphoblastoid silent region 12300 [Gene]
  • ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]
  • BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]
  • LOC126806455:BRD4-independent group 4 enhancer GRCh37_chr2:194444896-194446095 [Gene]
  • LOC126806456:BRD4-independent group 4 enhancer GRCh37_chr2:196652546-196653745 [Gene]
  • LOC126806457:BRD4-independent group 4 enhancer GRCh37_chr2:196722945-196724144 [Gene]
  • LOC126806460:BRD4-independent group 4 enhancer GRCh37_chr2:198299380-198300579 [Gene]
  • LOC126806464:BRD4-independent group 4 enhancer GRCh37_chr2:201109283-201110482 [Gene]
  • LOC126806466:BRD4-independent group 4 enhancer GRCh37_chr2:201253767-201254966 [Gene]
  • LOC126806470:BRD4-independent group 4 enhancer GRCh37_chr2:201753436-201754635 [Gene]
  • LOC126806476:BRD4-independent group 4 enhancer GRCh37_chr2:205316652-205317851 [Gene]
  • LOC126806478:BRD4-independent group 4 enhancer GRCh37_chr2:205562341-205563540 [Gene]
  • LOC126806480:BRD4-independent group 4 enhancer GRCh37_chr2:206543139-206544338 [Gene]
  • LOC126806483:BRD4-independent group 4 enhancer GRCh37_chr2:207479308-207480507 [Gene]
  • LOC126806485:BRD4-independent group 4 enhancer GRCh37_chr2:208259108-208260307 [Gene]
  • LOC126806491:BRD4-independent group 4 enhancer GRCh37_chr2:211225248-211226447 [Gene]
  • LOC126806497:BRD4-independent group 4 enhancer GRCh37_chr2:216255920-216257119 [Gene]
  • LOC126806500:BRD4-independent group 4 enhancer GRCh37_chr2:216392847-216394046 [Gene]
  • BZW1-AS1:BZW1 antisense RNA 1 [Gene - HGNC]
  • C2CD6:C2 calcium dependent domain containing 6 [Gene - OMIM - HGNC]
  • CFLAR:CASP8 and FADD like apoptosis regulator [Gene - OMIM - HGNC]
  • CD28:CD28 molecule [Gene - OMIM - HGNC]
  • CLK1:CDC like kinase 1 [Gene - OMIM - HGNC]
  • LOC126806458:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:197124217-197125416 [Gene]
  • LOC126806459:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198051264-198052463 [Gene]
  • LOC126806461:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:198773623-198774822 [Gene]
  • LOC126806463:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:200819858-200821057 [Gene]
  • LOC126806481:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:206617009-206618208 [Gene]
  • LOC126806484:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:207634423-207635622 [Gene]
  • LOC126806487:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:209736923-209738122 [Gene]
  • LOC126806489:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:210359703-210360902 [Gene]
  • LOC126806494:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:213793492-213794691 [Gene]
  • LOC126806496:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256 [Gene]
  • LOC126806498:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216288045-216289244 [Gene]
  • LOC126806499:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216298103-216299302 [Gene]
  • CFLAR-AS1:CFLAR antisense RNA 1 [Gene - HGNC]
  • CMKLR2-AS:CMKLR2 antisense RNA [Gene - OMIM - HGNC]
  • LOC108254675:CPS1 intron CAGE-defined high expression enhancer 1 [Gene]
  • LOC108178994:CPS1 intron CAGE-defined high expression enhancer 2 [Gene]
  • CPS1-IT1:CPS1 intronic transcript 1 [Gene - HGNC]
  • FASTKD2:FAST kinase domains 2 [Gene - OMIM - HGNC]
  • FN1-DT:FN1 divergent transcript [Gene - HGNC]
  • HECW2:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • HECW2-AS1:HECW2 antisense RNA 1 [Gene - HGNC]
  • LOC111413021:HNF1 motif-containing MPRA enhancer 152 [Gene]
  • HSPE1-MOB4:HSPE1-MOB4 readthrough [Gene - HGNC]
  • IDH1-AS1:IDH1 antisense RNA 1 [Gene - HGNC]
  • IKZF2:IKAROS family zinc finger 2 [Gene - OMIM - HGNC]
  • INO80D:INO80 complex subunit D [Gene - OMIM - HGNC]
  • INO80D-AS1:INO80D antisense RNA 1 [Gene - HGNC]
  • KANSL1L-AS1:KANSL1L antisense RNA 1 [Gene - HGNC]
  • KANSL1L:KAT8 regulatory NSL complex subunit 1 like [Gene - OMIM - HGNC]
  • KIAA2012-AS1:KIAA2012 antisense RNA 1 [Gene - HGNC]
  • KIAA2012:KIAA2012 [Gene - HGNC]
  • KLF7:KLF transcription factor 7 [Gene - OMIM - HGNC]
  • LANCL1-AS1:LANCL1 antisense RNA 1 [Gene - HGNC]
  • LANCL1:LanC like glutathione S-transferase 1 [Gene - OMIM - HGNC]
  • MPP4:MAGUK p55 scaffold protein 4 [Gene - OMIM - HGNC]
  • LOC126806462:MED14-independent group 3 enhancer GRCh37_chr2:200136608-200137807 [Gene]
  • LOC126806467:MED14-independent group 3 enhancer GRCh37_chr2:201270083-201271282 [Gene]
  • LOC126806469:MED14-independent group 3 enhancer GRCh37_chr2:201513174-201514373 [Gene]
  • LOC126806472:MED14-independent group 3 enhancer GRCh37_chr2:202903328-202904527 [Gene]
  • LOC126806474:MED14-independent group 3 enhancer GRCh37_chr2:204808046-204809245 [Gene]
  • LOC126806475:MED14-independent group 3 enhancer GRCh37_chr2:205186360-205187559 [Gene]
  • LOC126806477:MED14-independent group 3 enhancer GRCh37_chr2:205338259-205339458 [Gene]
  • LOC126806479:MED14-independent group 3 enhancer GRCh37_chr2:206099834-206101033 [Gene]
  • LOC126806482:MED14-independent group 3 enhancer GRCh37_chr2:207448893-207450092 [Gene]
  • LOC126806486:MED14-independent group 3 enhancer GRCh37_chr2:208772908-208774107 [Gene]
  • LOC126806488:MED14-independent group 3 enhancer GRCh37_chr2:210233444-210234643 [Gene]
  • LOC126806493:MED14-independent group 3 enhancer GRCh37_chr2:211294046-211295245 [Gene]
  • LOC121725111:MED14-independent group 3 enhancer GRCh37_chr2:213708156-213709355 [Gene]
  • LOC126806495:MED14-independent group 3 enhancer GRCh37_chr2:214276253-214277452 [Gene]
  • MOB4:MOB family member 4, phocein [Gene - OMIM - HGNC]
  • LOC129388979:MPRA-validated peak3996 silencer [Gene]
  • LOC129388980:MPRA-validated peak4000 silencer [Gene]
  • LOC129388981:MPRA-validated peak4010 silencer [Gene]
  • LOC129388982:MPRA-validated peak4013 silencer [Gene]
  • LOC129388983:MPRA-validated peak4014 silencer [Gene]
  • LOC129388984:MPRA-validated peak4017 silencer [Gene]
  • LOC129388985:MPRA-validated peak4020 silencer [Gene]
  • LOC129388986:MPRA-validated peak4022 silencer [Gene]
  • LOC129388987:MPRA-validated peak4024 silencer [Gene]
  • LOC129388988:MPRA-validated peak4025 silencer [Gene]
  • LOC129388989:MPRA-validated peak4030 silencer [Gene]
  • LOC129388990:MPRA-validated peak4034 silencer [Gene]
  • LOC129388991:MPRA-validated peak4035 silencer [Gene]
  • LOC129388992:MPRA-validated peak4041 silencer [Gene]
  • MYOSLID-AS1:MYOSLID antisense RNA 1 [Gene - HGNC]
  • NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]
  • NDUFB3:NADH:ubiquinone oxidoreductase subunit B3 [Gene - OMIM - HGNC]
  • LOC120977019:NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:202813665-202814208 [Gene]
  • NIF3L1:NGG1 interacting factor 3 like 1 [Gene - OMIM - HGNC]
  • NOP58:NOP58 ribonucleoprotein [Gene - OMIM - HGNC]
  • LOC112806069:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:196559503-196560702 [Gene]
  • LOC126806465:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201167128-201168327 [Gene]
  • LOC126806468:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:201473343-201474542 [Gene]
  • LOC126806471:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:202015298-202016497 [Gene]
  • LOC126806473:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:204675919-204677118 [Gene]
  • LOC126806490:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:210782411-210783610 [Gene]
  • LOC126806492:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:211229754-211230953 [Gene]
  • LOC108353821:PLCL1 intron CAGE-defined T cell enhancer [Gene]
  • RAPH1:Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 [Gene - OMIM - HGNC]
  • SATB2:SATB homeobox 2 [Gene - OMIM - HGNC]
  • SATB2-AS1:SATB2 antisense RNA 1 [Gene - HGNC]
  • SPAG16-DT:SPAG16 divergent transcript [Gene - HGNC]
  • STRADB:STE20 related adaptor beta [Gene - OMIM - HGNC]
  • LOC122861277:Sharpr-MPRA regulatory region 10379 [Gene]
  • LOC122861289:Sharpr-MPRA regulatory region 10603 [Gene]
  • LOC122861282:Sharpr-MPRA regulatory region 11101 [Gene]
  • LOC122861274:Sharpr-MPRA regulatory region 13904 [Gene]
  • LOC112806071:Sharpr-MPRA regulatory region 14302 [Gene]
  • LOC122861288:Sharpr-MPRA regulatory region 14446 [Gene]
  • LOC112806074:Sharpr-MPRA regulatory region 14521 [Gene]
  • LOC122861276:Sharpr-MPRA regulatory region 2520 [Gene]
  • LOC122861285:Sharpr-MPRA regulatory region 2767 [Gene]
  • LOC112806075:Sharpr-MPRA regulatory region 4559 [Gene]
  • LOC122861287:Sharpr-MPRA regulatory region 4788 [Gene]
  • LOC120977018:Sharpr-MPRA regulatory region 5577 [Gene]
  • LOC120977020:Sharpr-MPRA regulatory region 5619 [Gene]
  • LOC121725112:Sharpr-MPRA regulatory region 5653 [Gene]
  • LOC122861279:Sharpr-MPRA regulatory region 6032 [Gene]
  • LOC112806073:Sharpr-MPRA regulatory region 6083 [Gene]
  • LOC122861278:Sharpr-MPRA regulatory region 624 [Gene]
  • LOC112806070:Sharpr-MPRA regulatory region 6737 [Gene]
  • LOC121725109:Sharpr-MPRA regulatory region 7385 [Gene]
  • LOC122861275:Sharpr-MPRA regulatory region 7560 [Gene]
  • LOC122861280:Sharpr-MPRA regulatory region 7917 [Gene]
  • LOC122861281:Sharpr-MPRA regulatory region 8398 [Gene]
  • LOC122861286:Sharpr-MPRA regulatory region 8450 [Gene]
  • LOC122861284:Sharpr-MPRA regulatory region 8784 [Gene]
  • LOC121725110:Sharpr-MPRA regulatory region 8902 [Gene]
  • LOC110121148:VISTA enhancer hs1578 [Gene]
  • VWC2L-IT1:VWC2L intronic transcript 1 [Gene - HGNC]
  • WDR12:WD repeat domain 12 [Gene - OMIM - HGNC]
  • ABI2:abl interactor 2 [Gene - OMIM - HGNC]
  • ACADL:acyl-CoA dehydrogenase long chain [Gene - OMIM - HGNC]
  • AOX1:aldehyde oxidase 1 [Gene - OMIM - HGNC]
  • ALS2:alsin Rho guanine nucleotide exchange factor ALS2 [Gene - OMIM - HGNC]
  • ANKRD44:ankyrin repeat domain 44 [Gene - HGNC]
  • BZW1:basic leucine zipper and W2 domains 1 [Gene - OMIM - HGNC]
  • BMPR2:bone morphogenetic protein receptor type 2 [Gene - OMIM - HGNC]
  • BOLL:boule homolog, RNA binding protein [Gene - OMIM - HGNC]
  • CREB1:cAMP responsive element binding protein 1 [Gene - OMIM - HGNC]
  • CARF:calcium responsive transcription factor [Gene - OMIM - HGNC]
  • CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
  • CPO:carboxypeptidase O [Gene - OMIM - HGNC]
  • CASP10:caspase 10 [Gene - OMIM - HGNC]
  • CASP8:caspase 8 [Gene - OMIM - HGNC]
  • CMKLR2:chemerin chemokine-like receptor 2 [Gene - OMIM - HGNC]
  • C2orf66:chromosome 2 open reading frame 66 [Gene - HGNC]
  • C2orf69:chromosome 2 open reading frame 69 [Gene - OMIM - HGNC]
  • C2orf80:chromosome 2 open reading frame 80 [Gene - OMIM - HGNC]
  • COQ10B:coenzyme Q10B [Gene - OMIM - HGNC]
  • CCDC150:coiled-coil domain containing 150 [Gene - HGNC]
  • CRYGA:crystallin gamma A [Gene - OMIM - HGNC]
  • CRYGB:crystallin gamma B [Gene - OMIM - HGNC]
  • CRYGC:crystallin gamma C [Gene - OMIM - HGNC]
  • CRYGD:crystallin gamma D [Gene - OMIM - HGNC]
  • CCNYL1:cyclin Y like 1 [Gene - OMIM - HGNC]
  • CDK15:cyclin dependent kinase 15 [Gene - OMIM - HGNC]
  • CYP20A1:cytochrome P450 family 20 subfamily A member 1 [Gene - HGNC]
  • CTLA4:cytotoxic T-lymphocyte associated protein 4 [Gene - OMIM - HGNC]
  • DNAH7:dynein axonemal heavy chain 7 [Gene - OMIM - HGNC]
  • DYTN:dystrotelin [Gene - OMIM - HGNC]
  • ERBB4:erb-b2 receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • EEF1B2:eukaryotic translation elongation factor 1 beta 2 [Gene - OMIM - HGNC]
  • FAM117B:family with sequence similarity 117 member B [Gene - HGNC]
  • FAM237A:family with sequence similarity 237 member A [Gene - HGNC]
  • FN1:fibronectin 1 [Gene - OMIM - HGNC]
  • FLACC1:flagellum associated containing coiled-coil domains 1 [Gene - OMIM - HGNC]
  • FTCDNL1:formiminotransferase cyclodeaminase N-terminal like [Gene - OMIM - HGNC]
  • FZD5:frizzled class receptor 5 [Gene - OMIM - HGNC]
  • FZD7:frizzled class receptor 7 [Gene - OMIM - HGNC]
  • GTF3C3:general transcription factor IIIC subunit 3 [Gene - OMIM - HGNC]
  • HSPD1:heat shock protein family D (Hsp60) member 1 [Gene - OMIM - HGNC]
  • HSPE1:heat shock protein family E (Hsp10) member 1 [Gene - OMIM - HGNC]
  • HYCC2:hyccin PI4KA lipid kinase complex subunit 2 [Gene - HGNC]
  • ICOS:inducible T cell costimulator [Gene - OMIM - HGNC]
  • ICA1L:islet cell autoantigen 1 like [Gene - HGNC]
  • IDH1:isocitrate dehydrogenase (NADP(+)) 1 [Gene - OMIM - HGNC]
  • LINC01790:long intergenic non-protein coding RNA 1790 [Gene - HGNC]
  • LINC01792:long intergenic non-protein coding RNA 1792 [Gene - HGNC]
  • LINC01802:long intergenic non-protein coding RNA 1802 [Gene - HGNC]
  • LINC01821:long intergenic non-protein coding RNA 1821 [Gene - HGNC]
  • LINC01825:long intergenic non-protein coding RNA 1825 [Gene - HGNC]
  • LINC01827:long intergenic non-protein coding RNA 1827 [Gene - HGNC]
  • LINC01857:long intergenic non-protein coding RNA 1857 [Gene - HGNC]
  • LINC01877:long intergenic non-protein coding RNA 1877 [Gene - HGNC]
  • LINC01878:long intergenic non-protein coding RNA 1878 [Gene - HGNC]
  • LINC01923:long intergenic non-protein coding RNA 1923 [Gene - HGNC]
  • LINC01953:long intergenic non-protein coding RNA 1953 [Gene - HGNC]
  • LINC02862:long intergenic non-protein coding RNA 2862 [Gene - HGNC]
  • LINC00607:long intergenic non-protein coding RNA 607 [Gene - HGNC]
  • MDH1B:malate dehydrogenase 1B [Gene - HGNC]
  • MAIP1:matrix AAA peptidase interacting protein 1 [Gene - OMIM - HGNC]
  • LOC128772255:melanoma risk locus-associated MPRA allelic enhancer 2:202122995 [Gene]
  • LOC128772256:melanoma risk locus-associated MPRA allelic enhancer 2:202153225 [Gene]
  • MARS2:methionyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • METTL21A:methyltransferase 21A, HSPA lysine [Gene - OMIM - HGNC]
  • MIR1302-4:microRNA 1302-4 [Gene - HGNC]
  • MIR2355:microRNA 2355 [Gene - HGNC]
  • MIR3130-1:microRNA 3130-1 [Gene - HGNC]
  • MIR3130-2:microRNA 3130-2 [Gene - HGNC]
  • MIR4438:microRNA 4438 [Gene - HGNC]
  • MIR4775:microRNA 4775 [Gene - HGNC]
  • MIR4776-1:microRNA 4776-1 [Gene - HGNC]
  • MIR4776-2:microRNA 4776-2 [Gene - HGNC]
  • MIR548F2:microRNA 548f-2 [Gene - HGNC]
  • MIR7845:microRNA 7845 [Gene - HGNC]
  • MAP2:microtubule associated protein 2 [Gene - OMIM - HGNC]
  • MYOSLID:myocardin-induced smooth muscle lncRNA, inducer of differentiation [Gene - OMIM - HGNC]
  • MYL1:myosin light chain 1 [Gene - OMIM - HGNC]
  • NBEAL1:neurobeachin like 1 [Gene - OMIM - HGNC]
  • NRP2:neuropilin 2 [Gene - OMIM - HGNC]
  • ORC2:origin recognition complex subunit 2 [Gene - OMIM - HGNC]
  • PARD3B:par-3 family cell polarity regulator beta [Gene - OMIM - HGNC]
  • PTH2R:parathyroid hormone 2 receptor [Gene - OMIM - HGNC]
  • PPIL3:peptidylprolyl isomerase like 3 [Gene - OMIM - HGNC]
  • PIKFYVE:phosphoinositide kinase, FYVE-type zinc finger containing [Gene - OMIM - HGNC]
  • PLCL1:phospholipase C like 1 (inactive) [Gene - OMIM - HGNC]
  • PLEKHM3:pleckstrin homology domain containing M3 [Gene - OMIM - HGNC]
  • PGAP1:post-GPI attachment to proteins inositol deacylase 1 [Gene - OMIM - HGNC]
  • KCTD18:potassium channel tetramerization domain containing 18 [Gene - HGNC]
  • RFTN2:raftlin family member 2 [Gene - OMIM - HGNC]
  • RPE:ribulose-5-phosphate-3-epimerase [Gene - OMIM - HGNC]
  • STK17B:serine/threonine kinase 17b [Gene - OMIM - HGNC]
  • SGO2:shugoshin 2 [Gene - OMIM - HGNC]
  • SNHG31:small nucleolar RNA host gene 31 [Gene - HGNC]
  • SNORD11:small nucleolar RNA, C/D box 11 [Gene - HGNC]
  • SNORD11B:small nucleolar RNA, C/D box 11B [Gene - HGNC]
  • SNORD51:small nucleolar RNA, C/D box 51 [Gene - HGNC]
  • SNORD70:small nucleolar RNA, C/D box 70 [Gene - HGNC]
  • SNORD70B:small nucleolar RNA, C/D box 70B [Gene - HGNC]
  • SNORA105B:small nucleolar RNA, H/ACA box 105B [Gene - HGNC]
  • SNORA41:small nucleolar RNA, H/ACA box 41 [Gene - HGNC]
  • SNORA70I:small nucleolar RNA, H/ACA box 70I [Gene - HGNC]
  • SUMO1:small ubiquitin like modifier 1 [Gene - OMIM - HGNC]
  • SLC39A10:solute carrier family 39 member 10 [Gene - OMIM - HGNC]
  • SPAG16:sperm associated antigen 16 [Gene - OMIM - HGNC]
  • SPATS2L:spermatogenesis associated serine rich 2 like [Gene - OMIM - HGNC]
  • SF3B1:splicing factor 3b subunit 1 [Gene - OMIM - HGNC]
  • TYW5:tRNA-yW synthesizing protein 5 [Gene - OMIM - HGNC]
  • TRAK2:trafficking kinesin protein 2 [Gene - OMIM - HGNC]
  • TMEM237:transmembrane protein 237 [Gene - OMIM - HGNC]
  • UNC80:unc-80 homolog, NALCN channel complex subunit [Gene - OMIM - HGNC]
  • LOC100130452:uncharacterized LOC100130452 [Gene]
  • LOC100507443:uncharacterized LOC100507443 [Gene]
  • LOC101927960:uncharacterized LOC101927960 [Gene]
  • LOC102724849:uncharacterized LOC102724849 [Gene]
  • LOC102724861:uncharacterized LOC102724861 [Gene]
  • LOC105373835:uncharacterized LOC105373835 [Gene]
  • VWC2L:von Willebrand factor C domain containing 2 like [Gene - OMIM - HGNC]
  • ZDBF2:zinc finger DBF-type containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q32.3-35
Genomic location:
Preferred name:
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1
HGVS:
  • NC_000002.12:g.(?_192938826)_(215705052_?)del
  • NC_000002.10:g.(?_193511797)_(216278020_?)del
  • NC_000002.11:g.(?_193803552)_(216569775_?)del
Links:
dbVar: nssv1608180; dbVar: nsv932673
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
SCV000182152ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 14, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000182152.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024