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GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 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:
RCV000052709.4

Allele description [Variation Report for GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1]

GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1

Genes:
  • ALG8:ALG8 alpha-1,3-glucosyltransferase [Gene - OMIM - HGNC]
  • ARAP1-AS2:ARAP1 antisense RNA 2 [Gene - HGNC]
  • ARHGEF17-AS1:ARHGEF17 antisense RNA 1 [Gene - HGNC]
  • LOC130006318:ATAC-STARR-seq lymphoblastoid active region 5173 [Gene]
  • LOC130006319:ATAC-STARR-seq lymphoblastoid active region 5174 [Gene]
  • LOC130006320:ATAC-STARR-seq lymphoblastoid active region 5175 [Gene]
  • LOC130006321:ATAC-STARR-seq lymphoblastoid active region 5176 [Gene]
  • LOC130006322:ATAC-STARR-seq lymphoblastoid active region 5180 [Gene]
  • LOC130006323:ATAC-STARR-seq lymphoblastoid active region 5181 [Gene]
  • LOC130006330:ATAC-STARR-seq lymphoblastoid active region 5185 [Gene]
  • LOC130006331:ATAC-STARR-seq lymphoblastoid active region 5186 [Gene]
  • LOC130006332:ATAC-STARR-seq lymphoblastoid active region 5187 [Gene]
  • LOC130006333:ATAC-STARR-seq lymphoblastoid active region 5188 [Gene]
  • LOC130006334:ATAC-STARR-seq lymphoblastoid active region 5189 [Gene]
  • LOC130006335:ATAC-STARR-seq lymphoblastoid active region 5190 [Gene]
  • LOC130006336:ATAC-STARR-seq lymphoblastoid active region 5191 [Gene]
  • LOC130006339:ATAC-STARR-seq lymphoblastoid active region 5192 [Gene]
  • LOC130006340:ATAC-STARR-seq lymphoblastoid active region 5193 [Gene]
  • LOC130006344:ATAC-STARR-seq lymphoblastoid active region 5194 [Gene]
  • LOC130006345:ATAC-STARR-seq lymphoblastoid active region 5195 [Gene]
  • LOC130006346:ATAC-STARR-seq lymphoblastoid active region 5196 [Gene]
  • LOC130006347:ATAC-STARR-seq lymphoblastoid active region 5197 [Gene]
  • LOC130006348:ATAC-STARR-seq lymphoblastoid active region 5198 [Gene]
  • LOC130006349:ATAC-STARR-seq lymphoblastoid active region 5201 [Gene]
  • LOC130006350:ATAC-STARR-seq lymphoblastoid active region 5202 [Gene]
  • LOC130006352:ATAC-STARR-seq lymphoblastoid active region 5203 [Gene]
  • LOC130006353:ATAC-STARR-seq lymphoblastoid active region 5204 [Gene]
  • LOC130006356:ATAC-STARR-seq lymphoblastoid active region 5206 [Gene]
  • LOC130006358:ATAC-STARR-seq lymphoblastoid active region 5207 [Gene]
  • LOC130006359:ATAC-STARR-seq lymphoblastoid active region 5208 [Gene]
  • LOC130006362:ATAC-STARR-seq lymphoblastoid active region 5209 [Gene]
  • LOC130006364:ATAC-STARR-seq lymphoblastoid active region 5210 [Gene]
  • LOC130006365:ATAC-STARR-seq lymphoblastoid active region 5211 [Gene]
  • LOC130006366:ATAC-STARR-seq lymphoblastoid active region 5212 [Gene]
  • LOC130006369:ATAC-STARR-seq lymphoblastoid active region 5215 [Gene]
  • LOC130006370:ATAC-STARR-seq lymphoblastoid active region 5216 [Gene]
  • LOC130006371:ATAC-STARR-seq lymphoblastoid active region 5217 [Gene]
  • LOC130006372:ATAC-STARR-seq lymphoblastoid active region 5218 [Gene]
  • LOC130006373:ATAC-STARR-seq lymphoblastoid active region 5219 [Gene]
  • LOC130006374:ATAC-STARR-seq lymphoblastoid active region 5220 [Gene]
  • LOC130006375:ATAC-STARR-seq lymphoblastoid active region 5221 [Gene]
  • LOC130006376:ATAC-STARR-seq lymphoblastoid active region 5222 [Gene]
  • LOC130006377:ATAC-STARR-seq lymphoblastoid active region 5223 [Gene]
  • LOC130006378:ATAC-STARR-seq lymphoblastoid active region 5224 [Gene]
  • LOC130006379:ATAC-STARR-seq lymphoblastoid active region 5225 [Gene]
  • LOC130006380:ATAC-STARR-seq lymphoblastoid active region 5226 [Gene]
  • LOC130006381:ATAC-STARR-seq lymphoblastoid active region 5227 [Gene]
  • LOC130006382:ATAC-STARR-seq lymphoblastoid active region 5232 [Gene]
  • LOC130006383:ATAC-STARR-seq lymphoblastoid active region 5233 [Gene]
  • LOC130006385:ATAC-STARR-seq lymphoblastoid active region 5234 [Gene]
  • LOC130006386:ATAC-STARR-seq lymphoblastoid active region 5235 [Gene]
  • LOC130006390:ATAC-STARR-seq lymphoblastoid active region 5236 [Gene]
  • LOC130006394:ATAC-STARR-seq lymphoblastoid active region 5239 [Gene]
  • LOC130006397:ATAC-STARR-seq lymphoblastoid active region 5241 [Gene]
  • LOC130006398:ATAC-STARR-seq lymphoblastoid active region 5242 [Gene]
  • LOC130006399:ATAC-STARR-seq lymphoblastoid active region 5243 [Gene]
  • LOC130006400:ATAC-STARR-seq lymphoblastoid active region 5244 [Gene]
  • LOC130006401:ATAC-STARR-seq lymphoblastoid active region 5245 [Gene]
  • LOC130006404:ATAC-STARR-seq lymphoblastoid active region 5246 [Gene]
  • LOC130006405:ATAC-STARR-seq lymphoblastoid active region 5247 [Gene]
  • LOC130006406:ATAC-STARR-seq lymphoblastoid active region 5248 [Gene]
  • LOC130006409:ATAC-STARR-seq lymphoblastoid active region 5249 [Gene]
  • LOC130006410:ATAC-STARR-seq lymphoblastoid active region 5250 [Gene]
  • LOC130006413:ATAC-STARR-seq lymphoblastoid active region 5253 [Gene]
  • LOC130006415:ATAC-STARR-seq lymphoblastoid active region 5259 [Gene]
  • LOC130006416:ATAC-STARR-seq lymphoblastoid active region 5260 [Gene]
  • LOC130006417:ATAC-STARR-seq lymphoblastoid active region 5261 [Gene]
  • LOC130006420:ATAC-STARR-seq lymphoblastoid active region 5264 [Gene]
  • LOC130006422:ATAC-STARR-seq lymphoblastoid active region 5266 [Gene]
  • LOC130006424:ATAC-STARR-seq lymphoblastoid active region 5267 [Gene]
  • LOC130006427:ATAC-STARR-seq lymphoblastoid active region 5268 [Gene]
  • LOC130006429:ATAC-STARR-seq lymphoblastoid active region 5269 [Gene]
  • LOC130006430:ATAC-STARR-seq lymphoblastoid active region 5270 [Gene]
  • LOC130006433:ATAC-STARR-seq lymphoblastoid active region 5272 [Gene]
  • LOC130006434:ATAC-STARR-seq lymphoblastoid active region 5273 [Gene]
  • LOC130006435:ATAC-STARR-seq lymphoblastoid active region 5274 [Gene]
  • LOC130006437:ATAC-STARR-seq lymphoblastoid active region 5275 [Gene]
  • LOC130006440:ATAC-STARR-seq lymphoblastoid active region 5276 [Gene]
  • LOC130006441:ATAC-STARR-seq lymphoblastoid active region 5277 [Gene]
  • LOC130006443:ATAC-STARR-seq lymphoblastoid active region 5278 [Gene]
  • LOC130006445:ATAC-STARR-seq lymphoblastoid active region 5280 [Gene]
  • LOC130006446:ATAC-STARR-seq lymphoblastoid active region 5281 [Gene]
  • LOC130006447:ATAC-STARR-seq lymphoblastoid active region 5282 [Gene]
  • LOC130006448:ATAC-STARR-seq lymphoblastoid active region 5284 [Gene]
  • LOC130006452:ATAC-STARR-seq lymphoblastoid active region 5287 [Gene]
  • LOC130006454:ATAC-STARR-seq lymphoblastoid active region 5288 [Gene]
  • LOC130006455:ATAC-STARR-seq lymphoblastoid active region 5290 [Gene]
  • LOC130006456:ATAC-STARR-seq lymphoblastoid active region 5291 [Gene]
  • LOC130006458:ATAC-STARR-seq lymphoblastoid active region 5292 [Gene]
  • LOC130006459:ATAC-STARR-seq lymphoblastoid active region 5293 [Gene]
  • LOC130006460:ATAC-STARR-seq lymphoblastoid active region 5294 [Gene]
  • LOC130006462:ATAC-STARR-seq lymphoblastoid active region 5295 [Gene]
  • LOC130006463:ATAC-STARR-seq lymphoblastoid active region 5296 [Gene]
  • LOC130006467:ATAC-STARR-seq lymphoblastoid active region 5297 [Gene]
  • LOC130006468:ATAC-STARR-seq lymphoblastoid active region 5298 [Gene]
  • LOC130006470:ATAC-STARR-seq lymphoblastoid active region 5299 [Gene]
  • LOC130006472:ATAC-STARR-seq lymphoblastoid active region 5300 [Gene]
  • LOC130006473:ATAC-STARR-seq lymphoblastoid active region 5301 [Gene]
  • LOC130006474:ATAC-STARR-seq lymphoblastoid active region 5302 [Gene]
  • LOC130006480:ATAC-STARR-seq lymphoblastoid active region 5303 [Gene]
  • LOC130006481:ATAC-STARR-seq lymphoblastoid active region 5304 [Gene]
  • LOC130006482:ATAC-STARR-seq lymphoblastoid active region 5306 [Gene]
  • LOC130006483:ATAC-STARR-seq lymphoblastoid active region 5307 [Gene]
  • LOC130006486:ATAC-STARR-seq lymphoblastoid active region 5312 [Gene]
  • LOC130006490:ATAC-STARR-seq lymphoblastoid active region 5313 [Gene]
  • LOC130006491:ATAC-STARR-seq lymphoblastoid active region 5314 [Gene]
  • LOC130006492:ATAC-STARR-seq lymphoblastoid active region 5315 [Gene]
  • LOC130006493:ATAC-STARR-seq lymphoblastoid active region 5316 [Gene]
  • LOC130006497:ATAC-STARR-seq lymphoblastoid active region 5317 [Gene]
  • LOC130006498:ATAC-STARR-seq lymphoblastoid active region 5318 [Gene]
  • LOC130006324:ATAC-STARR-seq lymphoblastoid silent region 3713 [Gene]
  • LOC130006325:ATAC-STARR-seq lymphoblastoid silent region 3714 [Gene]
  • LOC130006326:ATAC-STARR-seq lymphoblastoid silent region 3715 [Gene]
  • LOC130006327:ATAC-STARR-seq lymphoblastoid silent region 3716 [Gene]
  • LOC130006328:ATAC-STARR-seq lymphoblastoid silent region 3717 [Gene]
  • LOC130006329:ATAC-STARR-seq lymphoblastoid silent region 3718 [Gene]
  • LOC130006337:ATAC-STARR-seq lymphoblastoid silent region 3719 [Gene]
  • LOC130006338:ATAC-STARR-seq lymphoblastoid silent region 3721 [Gene]
  • LOC130006341:ATAC-STARR-seq lymphoblastoid silent region 3723 [Gene]
  • LOC130006342:ATAC-STARR-seq lymphoblastoid silent region 3724 [Gene]
  • LOC130006343:ATAC-STARR-seq lymphoblastoid silent region 3725 [Gene]
  • LOC130006351:ATAC-STARR-seq lymphoblastoid silent region 3726 [Gene]
  • LOC130006354:ATAC-STARR-seq lymphoblastoid silent region 3727 [Gene]
  • LOC130006355:ATAC-STARR-seq lymphoblastoid silent region 3728 [Gene]
  • LOC130006357:ATAC-STARR-seq lymphoblastoid silent region 3729 [Gene]
  • LOC130006360:ATAC-STARR-seq lymphoblastoid silent region 3730 [Gene]
  • LOC130006361:ATAC-STARR-seq lymphoblastoid silent region 3731 [Gene]
  • LOC130006363:ATAC-STARR-seq lymphoblastoid silent region 3732 [Gene]
  • LOC130006367:ATAC-STARR-seq lymphoblastoid silent region 3734 [Gene]
  • LOC130006368:ATAC-STARR-seq lymphoblastoid silent region 3735 [Gene]
  • LOC130006384:ATAC-STARR-seq lymphoblastoid silent region 3737 [Gene]
  • LOC130006387:ATAC-STARR-seq lymphoblastoid silent region 3740 [Gene]
  • LOC130006388:ATAC-STARR-seq lymphoblastoid silent region 3741 [Gene]
  • LOC130006389:ATAC-STARR-seq lymphoblastoid silent region 3742 [Gene]
  • LOC130006391:ATAC-STARR-seq lymphoblastoid silent region 3743 [Gene]
  • LOC130006392:ATAC-STARR-seq lymphoblastoid silent region 3745 [Gene]
  • LOC130006393:ATAC-STARR-seq lymphoblastoid silent region 3746 [Gene]
  • LOC130006395:ATAC-STARR-seq lymphoblastoid silent region 3747 [Gene]
  • LOC130006396:ATAC-STARR-seq lymphoblastoid silent region 3748 [Gene]
  • LOC130006402:ATAC-STARR-seq lymphoblastoid silent region 3749 [Gene]
  • LOC130006403:ATAC-STARR-seq lymphoblastoid silent region 3750 [Gene]
  • LOC130006407:ATAC-STARR-seq lymphoblastoid silent region 3751 [Gene]
  • LOC130006408:ATAC-STARR-seq lymphoblastoid silent region 3752 [Gene]
  • LOC130006411:ATAC-STARR-seq lymphoblastoid silent region 3753 [Gene]
  • LOC130006412:ATAC-STARR-seq lymphoblastoid silent region 3754 [Gene]
  • LOC130006414:ATAC-STARR-seq lymphoblastoid silent region 3758 [Gene]
  • LOC130006418:ATAC-STARR-seq lymphoblastoid silent region 3759 [Gene]
  • LOC130006419:ATAC-STARR-seq lymphoblastoid silent region 3760 [Gene]
  • LOC130006421:ATAC-STARR-seq lymphoblastoid silent region 3762 [Gene]
  • LOC130006423:ATAC-STARR-seq lymphoblastoid silent region 3763 [Gene]
  • LOC130006425:ATAC-STARR-seq lymphoblastoid silent region 3764 [Gene]
  • LOC130006426:ATAC-STARR-seq lymphoblastoid silent region 3765 [Gene]
  • LOC130006428:ATAC-STARR-seq lymphoblastoid silent region 3767 [Gene]
  • LOC130006431:ATAC-STARR-seq lymphoblastoid silent region 3771 [Gene]
  • LOC130006432:ATAC-STARR-seq lymphoblastoid silent region 3772 [Gene]
  • LOC130006436:ATAC-STARR-seq lymphoblastoid silent region 3773 [Gene]
  • LOC130006438:ATAC-STARR-seq lymphoblastoid silent region 3774 [Gene]
  • LOC130006439:ATAC-STARR-seq lymphoblastoid silent region 3775 [Gene]
  • LOC130006442:ATAC-STARR-seq lymphoblastoid silent region 3776 [Gene]
  • LOC130006444:ATAC-STARR-seq lymphoblastoid silent region 3777 [Gene]
  • LOC130006449:ATAC-STARR-seq lymphoblastoid silent region 3778 [Gene]
  • LOC130006450:ATAC-STARR-seq lymphoblastoid silent region 3779 [Gene]
  • LOC130006451:ATAC-STARR-seq lymphoblastoid silent region 3780 [Gene]
  • LOC130006453:ATAC-STARR-seq lymphoblastoid silent region 3781 [Gene]
  • LOC130006457:ATAC-STARR-seq lymphoblastoid silent region 3783 [Gene]
  • LOC130006461:ATAC-STARR-seq lymphoblastoid silent region 3784 [Gene]
  • LOC130006464:ATAC-STARR-seq lymphoblastoid silent region 3785 [Gene]
  • LOC130006465:ATAC-STARR-seq lymphoblastoid silent region 3786 [Gene]
  • LOC130006466:ATAC-STARR-seq lymphoblastoid silent region 3787 [Gene]
  • LOC130006469:ATAC-STARR-seq lymphoblastoid silent region 3788 [Gene]
  • LOC130006471:ATAC-STARR-seq lymphoblastoid silent region 3790 [Gene]
  • LOC130006475:ATAC-STARR-seq lymphoblastoid silent region 3791 [Gene]
  • LOC130006476:ATAC-STARR-seq lymphoblastoid silent region 3792 [Gene]
  • LOC130006477:ATAC-STARR-seq lymphoblastoid silent region 3793 [Gene]
  • LOC130006478:ATAC-STARR-seq lymphoblastoid silent region 3794 [Gene]
  • LOC130006479:ATAC-STARR-seq lymphoblastoid silent region 3795 [Gene]
  • LOC130006484:ATAC-STARR-seq lymphoblastoid silent region 3800 [Gene]
  • LOC130006485:ATAC-STARR-seq lymphoblastoid silent region 3803 [Gene]
  • LOC130006487:ATAC-STARR-seq lymphoblastoid silent region 3804 [Gene]
  • LOC130006488:ATAC-STARR-seq lymphoblastoid silent region 3805 [Gene]
  • LOC130006489:ATAC-STARR-seq lymphoblastoid silent region 3807 [Gene]
  • LOC130006494:ATAC-STARR-seq lymphoblastoid silent region 3808 [Gene]
  • LOC130006495:ATAC-STARR-seq lymphoblastoid silent region 3809 [Gene]
  • LOC130006496:ATAC-STARR-seq lymphoblastoid silent region 3810 [Gene]
  • ARAP1:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
  • LOC126861257:BRD4-independent group 4 enhancer GRCh37_chr11:71728895-71730094 [Gene]
  • LOC126861260:BRD4-independent group 4 enhancer GRCh37_chr11:72959838-72961037 [Gene]
  • LOC126861263:BRD4-independent group 4 enhancer GRCh37_chr11:74123584-74124783 [Gene]
  • LOC126861265:BRD4-independent group 4 enhancer GRCh37_chr11:74554898-74556097 [Gene]
  • LOC126861271:BRD4-independent group 4 enhancer GRCh37_chr11:76674446-76675645 [Gene]
  • C2CD3:C2 domain containing 3 centriole elongation regulator [Gene - OMIM - HGNC]
  • LOC126861259:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:72131818-72133017 [Gene]
  • LOC126861262:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:73747696-73748895 [Gene]
  • LOC126861268:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:75524366-75525565 [Gene]
  • LOC126861269:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76253613-76254812 [Gene]
  • LOC126861270:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:76550011-76551210 [Gene]
  • LOC116216151:CRISPRi-validated cis-regulatory element chr11.4166 [Gene]
  • LOC116216152:CRISPRi-validated cis-regulatory element chr11.4261 [Gene]
  • LOC116216153:CRISPRi-validated cis-regulatory element chr11.4348 [Gene]
  • LOC116216154:CRISPRi-validated cis-regulatory element chr11.4355 [Gene]
  • LOC116216155:CRISPRi-validated cis-regulatory element chr11.4356 [Gene]
  • LOC116216156:CRISPRi-validated cis-regulatory element chr11.4413 [Gene]
  • LOC116216157:CRISPRi-validated cis-regulatory element chr11.4478 [Gene]
  • LOC116216158:CRISPRi-validated cis-regulatory element chr11.4537 [Gene]
  • CLPB:ClpB family mitochondrial disaggregase [Gene - OMIM - HGNC]
  • DGAT2-DT:DGAT2 divergent transcript [Gene - HGNC]
  • POLD3:DNA polymerase delta 3, accessory subunit [Gene - OMIM - HGNC]
  • DNAJB13:DnaJ heat shock protein family (Hsp40) member B13 [Gene - OMIM - HGNC]
  • EMSY-DT:EMSY divergent transcript [Gene - HGNC]
  • EMSY:EMSY transcriptional repressor, BRCA2 interacting [Gene - OMIM - HGNC]
  • FCHSD2:FCH and double SH3 domains 2 [Gene - OMIM - HGNC]
  • GAB2:GRB2 associated binding protein 2 [Gene - OMIM - HGNC]
  • GVQW3:GVQW motif containing 3 [Gene - HGNC]
  • KCTD21-AS1:KCTD21 antisense RNA 1 [Gene - HGNC]
  • LIPT2-AS1:LIPT2 antisense RNA 1 [Gene - HGNC]
  • LOC126861258:MED14-independent group 3 enhancer GRCh37_chr11:72012242-72013441 [Gene]
  • LOC126861261:MED14-independent group 3 enhancer GRCh37_chr11:73715060-73716259 [Gene]
  • LOC126861264:MED14-independent group 3 enhancer GRCh37_chr11:74407669-74408868 [Gene]
  • LOC126861267:MED14-independent group 3 enhancer GRCh37_chr11:74853637-74854836 [Gene]
  • LOC129390305:MPRA-validated peak1339 silencer [Gene]
  • LOC129390306:MPRA-validated peak1340 silencer [Gene]
  • LOC129390307:MPRA-validated peak1347 silencer [Gene]
  • LOC129390308:MPRA-validated peak1349 silencer [Gene]
  • LOC129390309:MPRA-validated peak1350 silencer [Gene]
  • LOC129390310:MPRA-validated peak1351 silencer [Gene]
  • LOC129390311:MPRA-validated peak1353 silencer [Gene]
  • LOC129390312:MPRA-validated peak1361 silencer [Gene]
  • LOC129390313:MPRA-validated peak1362 silencer [Gene]
  • LOC129390314:MPRA-validated peak1363 silencer [Gene]
  • LOC129390315:MPRA-validated peak1365 silencer [Gene]
  • LOC129390316:MPRA-validated peak1367 silencer [Gene]
  • NDUFC2:NADH:ubiquinone oxidoreductase subunit C2 [Gene - OMIM - HGNC]
  • NDUFC2-KCTD14:NDUFC2-KCTD14 readthrough [Gene - HGNC]
  • LOC126861266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:74810905-74812104 [Gene]
  • LOC121832801:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:77270938-77272137 [Gene]
  • P4HA3-AS1:P4HA3 antisense RNA 1 [Gene - HGNC]
  • PDE2A-AS1:PDE2A antisense RNA 1 [Gene - HGNC]
  • RAB6A:RAB6A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RELT:RELT TNF receptor [Gene - OMIM - HGNC]
  • LOC108281147:RNF169 intron CAGE-defined mid-level expression enhancer [Gene]
  • RSF1-IT1:RSF1 intronic transcript 1 [Gene - HGNC]
  • ARHGEF17:Rho guanine nucleotide exchange factor 17 [Gene - OMIM - HGNC]
  • LOC112136088:Sharpr-MPRA regulatory region 10154 [Gene]
  • LOC124500693:Sharpr-MPRA regulatory region 10511 [Gene]
  • LOC124500691:Sharpr-MPRA regulatory region 10576 [Gene]
  • LOC124500696:Sharpr-MPRA regulatory region 10650 [Gene]
  • LOC124500695:Sharpr-MPRA regulatory region 11011 [Gene]
  • LOC124500684:Sharpr-MPRA regulatory region 1135 [Gene]
  • LOC124500697:Sharpr-MPRA regulatory region 11448 [Gene]
  • LOC112136090:Sharpr-MPRA regulatory region 1403 [Gene]
  • LOC112136083:Sharpr-MPRA regulatory region 14106 [Gene]
  • LOC124500687:Sharpr-MPRA regulatory region 14801 [Gene]
  • LOC124500685:Sharpr-MPRA regulatory region 15519 [Gene]
  • LOC124500689:Sharpr-MPRA regulatory region 15540 [Gene]
  • LOC124500692:Sharpr-MPRA regulatory region 15578 [Gene]
  • LOC121832799:Sharpr-MPRA regulatory region 2034 [Gene]
  • LOC121392927:Sharpr-MPRA regulatory region 2548 [Gene]
  • LOC124500686:Sharpr-MPRA regulatory region 2623 [Gene]
  • LOC124500694:Sharpr-MPRA regulatory region 3332 [Gene]
  • LOC112136082:Sharpr-MPRA regulatory region 3523 [Gene]
  • LOC121392928:Sharpr-MPRA regulatory region 4120 [Gene]
  • LOC121392931:Sharpr-MPRA regulatory region 5087 [Gene]
  • LOC124500688:Sharpr-MPRA regulatory region 5745 [Gene]
  • LOC121392930:Sharpr-MPRA regulatory region 8 [Gene]
  • LOC121832800:Sharpr-MPRA regulatory region 9026 [Gene]
  • LOC121392929:Sharpr-MPRA regulatory region 9619 [Gene]
  • LOC112136089:Sharpr-MPRA regulatory region 9860 [Gene]
  • LOC124500690:Sharpr-MPRA regulatory regions 4651 and 6526 [Gene]
  • LOC111822946:Sharpr-MPRA regulatory regions 6111 and 12908 [Gene]
  • STARD10:StAR related lipid transfer domain containing 10 [Gene - OMIM - HGNC]
  • THAP12:THAP domain containing 12 [Gene - OMIM - HGNC]
  • TPBGL-AS1:TPBGL antisense RNA 1 [Gene - HGNC]
  • TSKU-AS1:TSKU antisense RNA 1 [Gene - HGNC]
  • B3GNT6:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 [Gene - OMIM - HGNC]
  • UVRAG:UV radiation resistance associated [Gene - OMIM - HGNC]
  • UVRAG-DT:UVRAG divergent transcript [Gene - HGNC]
  • LOC110121365:VISTA enhancer hs1435 [Gene]
  • LOC110121439:VISTA enhancer hs1748 [Gene]
  • WNT11:Wnt family member 11 [Gene - OMIM - HGNC]
  • XRRA1:X-ray radiation resistance associated 1 [Gene - OMIM - HGNC]
  • AAMDC:adipogenesis associated Mth938 domain containing [Gene - OMIM - HGNC]
  • ACER3:alkaline ceramidase 3 [Gene - OMIM - HGNC]
  • ANAPC15:anaphase promoting complex subunit 15 [Gene - OMIM - HGNC]
  • AQP11:aquaporin 11 [Gene - OMIM - HGNC]
  • ARRB1:arrestin beta 1 [Gene - OMIM - HGNC]
  • ATG16L2:autophagy related 16 like 2 [Gene - OMIM - HGNC]
  • CAPN5:calpain 5 [Gene - OMIM - HGNC]
  • CLNS1A:chloride nucleotide-sensitive channel 1A [Gene - OMIM - HGNC]
  • CHRDL2:chordin like 2 [Gene - OMIM - HGNC]
  • COA4:cytochrome c oxidase assembly factor 4 homolog [Gene - OMIM - HGNC]
  • DGAT2:diacylglycerol O-acyltransferase 2 [Gene - OMIM - HGNC]
  • FAM168A:family with sequence similarity 168 member A [Gene - OMIM - HGNC]
  • FOLR1:folate receptor alpha [Gene - OMIM - HGNC]
  • FOLR2:folate receptor beta [Gene - OMIM - HGNC]
  • FOLR3:folate receptor gamma [Gene - OMIM - HGNC]
  • GDPD4:glycerophosphodiester phosphodiesterase domain containing 4 [Gene - HGNC]
  • GDPD5:glycerophosphodiester phosphodiesterase domain containing 5 [Gene - OMIM - HGNC]
  • INPPL1:inositol polyphosphate phosphatase like 1 [Gene - OMIM - HGNC]
  • INTS4:integrator complex subunit 4 [Gene - OMIM - HGNC]
  • IL18BP:interleukin 18 binding protein [Gene - OMIM - HGNC]
  • KLHL35:kelch like family member 35 [Gene - HGNC]
  • LAMTOR1:late endosomal/lysosomal adaptor, MAPK and MTOR activator 1 [Gene - OMIM - HGNC]
  • LRRC32:leucine rich repeat containing 32 [Gene - OMIM - HGNC]
  • LRRC51:leucine rich repeat containing 51 [Gene - HGNC]
  • LRTOMT:leucine rich transmembrane and O-methyltransferase domain containing [Gene - OMIM - HGNC]
  • LIPT2:lipoyl(octanoyl) transferase 2 [Gene - OMIM - HGNC]
  • LINC01537:long intergenic non-protein coding RNA 1537 [Gene - HGNC]
  • LINC02757:long intergenic non-protein coding RNA 2757 [Gene - HGNC]
  • LINC03030:long intergenic non-protein coding RNA 3030 [Gene - HGNC]
  • MIR139:microRNA 139 [Gene - OMIM - HGNC]
  • MIR3165:microRNA 3165 [Gene - HGNC]
  • MIR326:microRNA 326 [Gene - OMIM - HGNC]
  • MIR4692:microRNA 4692 [Gene - HGNC]
  • MIR4696:microRNA 4696 [Gene - HGNC]
  • MIR548AL:microRNA 548al [Gene - HGNC]
  • MAP6:microtubule associated protein 6 [Gene - OMIM - HGNC]
  • MRPL48:mitochondrial ribosomal protein L48 [Gene - OMIM - HGNC]
  • MOGAT2:monoacylglycerol O-acyltransferase 2 [Gene - OMIM - HGNC]
  • MYO7A:myosin VIIA [Gene - OMIM - HGNC]
  • NEU3:neuraminidase 3 [Gene - OMIM - HGNC]
  • NUMA1:nuclear mitotic apparatus protein 1 [Gene - OMIM - HGNC]
  • OMP:olfactory marker protein [Gene - OMIM - HGNC]
  • OR2AT4:olfactory receptor family 2 subfamily AT member 4 [Gene - HGNC]
  • PAK1:p21 (RAC1) activated kinase 1 [Gene - OMIM - HGNC]
  • PHOX2A:paired like homeobox 2A [Gene - OMIM - HGNC]
  • PDE2A:phosphodiesterase 2A [Gene - OMIM - HGNC]
  • PGM2L1:phosphoglucomutase 2 like 1 [Gene - OMIM - HGNC]
  • PLEKHB1:pleckstrin homology domain containing B1 [Gene - OMIM - HGNC]
  • KCTD14:potassium channel tetramerization domain containing 14 [Gene - HGNC]
  • KCTD21:potassium channel tetramerization domain containing 21 [Gene - OMIM - HGNC]
  • KCNE3:potassium voltage-gated channel subfamily E regulatory subunit 3 [Gene - OMIM - HGNC]
  • P4HA3:prolyl 4-hydroxylase subunit alpha 3 [Gene - OMIM - HGNC]
  • PAAF1:proteasomal ATPase associated factor 1 [Gene - OMIM - HGNC]
  • PPME1:protein phosphatase methylesterase 1 [Gene - OMIM - HGNC]
  • P2RY2:purinergic receptor P2Y2 [Gene - OMIM - HGNC]
  • P2RY6:pyrimidinergic receptor P2Y6 [Gene - OMIM - HGNC]
  • RSF1:remodeling and spacing factor 1 [Gene - OMIM - HGNC]
  • RPS3:ribosomal protein S3 [Gene - OMIM - HGNC]
  • RNF121:ring finger protein 121 [Gene - OMIM - HGNC]
  • RNF169:ring finger protein 169 [Gene - OMIM - HGNC]
  • SERPINH1:serpin family H member 1 [Gene - OMIM - HGNC]
  • SPCS2:signal peptidase complex subunit 2 [Gene - OMIM - HGNC]
  • LOC111718492:skeletal muscle cis-regulatory module in INPPL1 intron [Gene]
  • SNORD15A:small nucleolar RNA, C/D box 15A [Gene - OMIM - HGNC]
  • SNORD15B:small nucleolar RNA, C/D box 15B [Gene - HGNC]
  • SLCO2B1:solute carrier organic anion transporter family member 2B1 [Gene - OMIM - HGNC]
  • TRP-AGG2-4:tRNA-Pro (anticodon AGG) 2-4 [Gene - HGNC]
  • TRP-TGG2-1:tRNA-Pro (anticodon TGG) 2-1 [Gene - HGNC]
  • THRSP:thyroid hormone responsive [Gene - OMIM - HGNC]
  • TOMT:transmembrane O-methyltransferase [Gene - HGNC]
  • TPBGL:trophoblast glycoprotein like [Gene - HGNC]
  • TSKU:tsukushi, small leucine rich proteoglycan [Gene - OMIM - HGNC]
  • USP35:ubiquitin specific peptidase 35 [Gene - HGNC]
  • LOC100128494:uncharacterized LOC100128494 [Gene]
  • LOC105369391:uncharacterized LOC105369391 [Gene]
  • UCP2:uncoupling protein 2 [Gene - OMIM - HGNC]
  • UCP3:uncoupling protein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q13.4-14.1
Genomic location:
Preferred name:
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1
HGVS:
  • NC_000011.10:g.(?_71969881)_(78232895_?)del
  • NC_000011.8:g.(?_71358575)_(77621589_?)del
  • NC_000011.9:g.(?_71680927)_(77943941_?)del
Links:
dbVar: nssv577350; dbVar: nsv531426
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
SCV000080063GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000080063.4

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

Last Updated: Oct 14, 2023