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GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000051849.5

Allele description [Variation Report for GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3]

GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
  • LOC130060308:ATAC-STARR-seq lymphoblastoid active region 11743 [Gene]
  • LOC130060310:ATAC-STARR-seq lymphoblastoid active region 11746 [Gene]
  • LOC130060313:ATAC-STARR-seq lymphoblastoid active region 11748 [Gene]
  • LOC130060314:ATAC-STARR-seq lymphoblastoid active region 11749 [Gene]
  • LOC130060315:ATAC-STARR-seq lymphoblastoid active region 11750 [Gene]
  • LOC130060316:ATAC-STARR-seq lymphoblastoid active region 11752 [Gene]
  • LOC130060317:ATAC-STARR-seq lymphoblastoid active region 11753 [Gene]
  • LOC130060318:ATAC-STARR-seq lymphoblastoid active region 11754 [Gene]
  • LOC130060322:ATAC-STARR-seq lymphoblastoid active region 11755 [Gene]
  • LOC130060323:ATAC-STARR-seq lymphoblastoid active region 11756 [Gene]
  • LOC130060328:ATAC-STARR-seq lymphoblastoid active region 11757 [Gene]
  • LOC130060329:ATAC-STARR-seq lymphoblastoid active region 11758 [Gene]
  • LOC130060330:ATAC-STARR-seq lymphoblastoid active region 11759 [Gene]
  • LOC130060332:ATAC-STARR-seq lymphoblastoid active region 11760 [Gene]
  • LOC130060333:ATAC-STARR-seq lymphoblastoid active region 11761 [Gene]
  • LOC130060334:ATAC-STARR-seq lymphoblastoid active region 11762 [Gene]
  • LOC130060335:ATAC-STARR-seq lymphoblastoid active region 11763 [Gene]
  • LOC130060339:ATAC-STARR-seq lymphoblastoid active region 11767 [Gene]
  • LOC130060340:ATAC-STARR-seq lymphoblastoid active region 11768 [Gene]
  • LOC130060341:ATAC-STARR-seq lymphoblastoid active region 11769 [Gene]
  • LOC130060343:ATAC-STARR-seq lymphoblastoid active region 11770 [Gene]
  • LOC130060344:ATAC-STARR-seq lymphoblastoid active region 11772 [Gene]
  • LOC130060345:ATAC-STARR-seq lymphoblastoid active region 11773 [Gene]
  • LOC130060347:ATAC-STARR-seq lymphoblastoid active region 11774 [Gene]
  • LOC130060348:ATAC-STARR-seq lymphoblastoid active region 11775 [Gene]
  • LOC130060349:ATAC-STARR-seq lymphoblastoid active region 11776 [Gene]
  • LOC130060350:ATAC-STARR-seq lymphoblastoid active region 11777 [Gene]
  • LOC130060351:ATAC-STARR-seq lymphoblastoid active region 11778 [Gene]
  • LOC130060352:ATAC-STARR-seq lymphoblastoid active region 11779 [Gene]
  • LOC130060353:ATAC-STARR-seq lymphoblastoid active region 11780 [Gene]
  • LOC130060354:ATAC-STARR-seq lymphoblastoid active region 11781 [Gene]
  • LOC130060355:ATAC-STARR-seq lymphoblastoid active region 11784 [Gene]
  • LOC130060356:ATAC-STARR-seq lymphoblastoid active region 11785 [Gene]
  • LOC130060357:ATAC-STARR-seq lymphoblastoid active region 11786 [Gene]
  • LOC130060359:ATAC-STARR-seq lymphoblastoid active region 11787 [Gene]
  • LOC130060360:ATAC-STARR-seq lymphoblastoid active region 11788 [Gene]
  • LOC130060361:ATAC-STARR-seq lymphoblastoid active region 11789 [Gene]
  • LOC130060362:ATAC-STARR-seq lymphoblastoid active region 11790 [Gene]
  • LOC130060363:ATAC-STARR-seq lymphoblastoid active region 11791 [Gene]
  • LOC130060364:ATAC-STARR-seq lymphoblastoid active region 11792 [Gene]
  • LOC130060366:ATAC-STARR-seq lymphoblastoid active region 11793 [Gene]
  • LOC130060370:ATAC-STARR-seq lymphoblastoid active region 11794 [Gene]
  • LOC130060371:ATAC-STARR-seq lymphoblastoid active region 11795 [Gene]
  • LOC130060373:ATAC-STARR-seq lymphoblastoid active region 11796 [Gene]
  • LOC130060374:ATAC-STARR-seq lymphoblastoid active region 11797 [Gene]
  • LOC130060375:ATAC-STARR-seq lymphoblastoid active region 11798 [Gene]
  • LOC130060379:ATAC-STARR-seq lymphoblastoid active region 11799 [Gene]
  • LOC130060380:ATAC-STARR-seq lymphoblastoid active region 11800 [Gene]
  • LOC130060384:ATAC-STARR-seq lymphoblastoid active region 11802 [Gene]
  • LOC130060385:ATAC-STARR-seq lymphoblastoid active region 11803 [Gene]
  • LOC130060386:ATAC-STARR-seq lymphoblastoid active region 11804 [Gene]
  • LOC130060389:ATAC-STARR-seq lymphoblastoid active region 11805 [Gene]
  • LOC130060390:ATAC-STARR-seq lymphoblastoid active region 11806 [Gene]
  • LOC130060391:ATAC-STARR-seq lymphoblastoid active region 11807 [Gene]
  • LOC130060392:ATAC-STARR-seq lymphoblastoid active region 11808 [Gene]
  • LOC130060393:ATAC-STARR-seq lymphoblastoid active region 11809 [Gene]
  • LOC130060394:ATAC-STARR-seq lymphoblastoid active region 11810 [Gene]
  • LOC130060398:ATAC-STARR-seq lymphoblastoid active region 11811 [Gene]
  • LOC130060400:ATAC-STARR-seq lymphoblastoid active region 11812 [Gene]
  • LOC130060401:ATAC-STARR-seq lymphoblastoid active region 11813 [Gene]
  • LOC130060403:ATAC-STARR-seq lymphoblastoid active region 11815 [Gene]
  • LOC130060404:ATAC-STARR-seq lymphoblastoid active region 11816 [Gene]
  • LOC130060405:ATAC-STARR-seq lymphoblastoid active region 11817 [Gene]
  • LOC130060406:ATAC-STARR-seq lymphoblastoid active region 11818 [Gene]
  • LOC130060408:ATAC-STARR-seq lymphoblastoid active region 11819 [Gene]
  • LOC130060409:ATAC-STARR-seq lymphoblastoid active region 11820 [Gene]
  • LOC130060410:ATAC-STARR-seq lymphoblastoid active region 11821 [Gene]
  • LOC130060411:ATAC-STARR-seq lymphoblastoid active region 11822 [Gene]
  • LOC130060414:ATAC-STARR-seq lymphoblastoid active region 11823 [Gene]
  • LOC130060415:ATAC-STARR-seq lymphoblastoid active region 11824 [Gene]
  • LOC130060417:ATAC-STARR-seq lymphoblastoid active region 11827 [Gene]
  • LOC130060418:ATAC-STARR-seq lymphoblastoid active region 11828 [Gene]
  • LOC130060419:ATAC-STARR-seq lymphoblastoid active region 11829 [Gene]
  • LOC130060420:ATAC-STARR-seq lymphoblastoid active region 11830 [Gene]
  • LOC130060422:ATAC-STARR-seq lymphoblastoid active region 11831 [Gene]
  • LOC130060425:ATAC-STARR-seq lymphoblastoid active region 11833 [Gene]
  • LOC130060426:ATAC-STARR-seq lymphoblastoid active region 11834 [Gene]
  • LOC130060427:ATAC-STARR-seq lymphoblastoid active region 11836 [Gene]
  • LOC130060430:ATAC-STARR-seq lymphoblastoid active region 11838 [Gene]
  • LOC130060432:ATAC-STARR-seq lymphoblastoid active region 11839 [Gene]
  • LOC130060434:ATAC-STARR-seq lymphoblastoid active region 11840 [Gene]
  • LOC130060435:ATAC-STARR-seq lymphoblastoid active region 11843 [Gene]
  • LOC130060436:ATAC-STARR-seq lymphoblastoid active region 11844 [Gene]
  • LOC130060437:ATAC-STARR-seq lymphoblastoid active region 11845 [Gene]
  • LOC130060438:ATAC-STARR-seq lymphoblastoid active region 11846 [Gene]
  • LOC130060441:ATAC-STARR-seq lymphoblastoid active region 11848 [Gene]
  • LOC130060443:ATAC-STARR-seq lymphoblastoid active region 11849 [Gene]
  • LOC130060446:ATAC-STARR-seq lymphoblastoid active region 11850 [Gene]
  • LOC130060447:ATAC-STARR-seq lymphoblastoid active region 11851 [Gene]
  • LOC130060449:ATAC-STARR-seq lymphoblastoid active region 11852 [Gene]
  • LOC130060450:ATAC-STARR-seq lymphoblastoid active region 11853 [Gene]
  • LOC130060451:ATAC-STARR-seq lymphoblastoid active region 11854 [Gene]
  • LOC130060452:ATAC-STARR-seq lymphoblastoid active region 11855 [Gene]
  • LOC130060454:ATAC-STARR-seq lymphoblastoid active region 11856 [Gene]
  • LOC130060458:ATAC-STARR-seq lymphoblastoid active region 11858 [Gene]
  • LOC130060465:ATAC-STARR-seq lymphoblastoid active region 11859 [Gene]
  • LOC130060467:ATAC-STARR-seq lymphoblastoid active region 11860 [Gene]
  • LOC130060469:ATAC-STARR-seq lymphoblastoid active region 11861 [Gene]
  • LOC130060471:ATAC-STARR-seq lymphoblastoid active region 11862 [Gene]
  • LOC130060472:ATAC-STARR-seq lymphoblastoid active region 11864 [Gene]
  • LOC130060476:ATAC-STARR-seq lymphoblastoid active region 11865 [Gene]
  • LOC130060477:ATAC-STARR-seq lymphoblastoid active region 11867 [Gene]
  • LOC130060478:ATAC-STARR-seq lymphoblastoid active region 11868 [Gene]
  • LOC130060307:ATAC-STARR-seq lymphoblastoid silent region 8211 [Gene]
  • LOC130060309:ATAC-STARR-seq lymphoblastoid silent region 8213 [Gene]
  • LOC130060311:ATAC-STARR-seq lymphoblastoid silent region 8214 [Gene]
  • LOC130060312:ATAC-STARR-seq lymphoblastoid silent region 8215 [Gene]
  • LOC130060319:ATAC-STARR-seq lymphoblastoid silent region 8217 [Gene]
  • LOC130060320:ATAC-STARR-seq lymphoblastoid silent region 8218 [Gene]
  • LOC130060321:ATAC-STARR-seq lymphoblastoid silent region 8219 [Gene]
  • LOC130060324:ATAC-STARR-seq lymphoblastoid silent region 8220 [Gene]
  • LOC130060325:ATAC-STARR-seq lymphoblastoid silent region 8221 [Gene]
  • LOC130060326:ATAC-STARR-seq lymphoblastoid silent region 8222 [Gene]
  • LOC130060327:ATAC-STARR-seq lymphoblastoid silent region 8223 [Gene]
  • LOC130060331:ATAC-STARR-seq lymphoblastoid silent region 8224 [Gene]
  • LOC130060336:ATAC-STARR-seq lymphoblastoid silent region 8225 [Gene]
  • LOC130060337:ATAC-STARR-seq lymphoblastoid silent region 8226 [Gene]
  • LOC130060338:ATAC-STARR-seq lymphoblastoid silent region 8227 [Gene]
  • LOC130060342:ATAC-STARR-seq lymphoblastoid silent region 8228 [Gene]
  • LOC130060346:ATAC-STARR-seq lymphoblastoid silent region 8230 [Gene]
  • LOC130060358:ATAC-STARR-seq lymphoblastoid silent region 8233 [Gene]
  • LOC130060365:ATAC-STARR-seq lymphoblastoid silent region 8234 [Gene]
  • LOC130060367:ATAC-STARR-seq lymphoblastoid silent region 8235 [Gene]
  • LOC130060368:ATAC-STARR-seq lymphoblastoid silent region 8236 [Gene]
  • LOC130060369:ATAC-STARR-seq lymphoblastoid silent region 8237 [Gene]
  • LOC130060372:ATAC-STARR-seq lymphoblastoid silent region 8239 [Gene]
  • LOC130060376:ATAC-STARR-seq lymphoblastoid silent region 8240 [Gene]
  • LOC130060377:ATAC-STARR-seq lymphoblastoid silent region 8241 [Gene]
  • LOC130060378:ATAC-STARR-seq lymphoblastoid silent region 8242 [Gene]
  • LOC130060381:ATAC-STARR-seq lymphoblastoid silent region 8243 [Gene]
  • LOC130060382:ATAC-STARR-seq lymphoblastoid silent region 8244 [Gene]
  • LOC130060383:ATAC-STARR-seq lymphoblastoid silent region 8245 [Gene]
  • LOC130060387:ATAC-STARR-seq lymphoblastoid silent region 8249 [Gene]
  • LOC130060388:ATAC-STARR-seq lymphoblastoid silent region 8250 [Gene]
  • LOC130060395:ATAC-STARR-seq lymphoblastoid silent region 8254 [Gene]
  • LOC130060396:ATAC-STARR-seq lymphoblastoid silent region 8255 [Gene]
  • LOC130060397:ATAC-STARR-seq lymphoblastoid silent region 8256 [Gene]
  • LOC130060399:ATAC-STARR-seq lymphoblastoid silent region 8257 [Gene]
  • LOC130060402:ATAC-STARR-seq lymphoblastoid silent region 8261 [Gene]
  • LOC130060407:ATAC-STARR-seq lymphoblastoid silent region 8262 [Gene]
  • LOC130060412:ATAC-STARR-seq lymphoblastoid silent region 8264 [Gene]
  • LOC130060413:ATAC-STARR-seq lymphoblastoid silent region 8265 [Gene]
  • LOC130060416:ATAC-STARR-seq lymphoblastoid silent region 8266 [Gene]
  • LOC130060421:ATAC-STARR-seq lymphoblastoid silent region 8269 [Gene]
  • LOC130060423:ATAC-STARR-seq lymphoblastoid silent region 8270 [Gene]
  • LOC130060424:ATAC-STARR-seq lymphoblastoid silent region 8271 [Gene]
  • LOC130060428:ATAC-STARR-seq lymphoblastoid silent region 8275 [Gene]
  • LOC130060429:ATAC-STARR-seq lymphoblastoid silent region 8276 [Gene]
  • LOC130060431:ATAC-STARR-seq lymphoblastoid silent region 8278 [Gene]
  • LOC130060433:ATAC-STARR-seq lymphoblastoid silent region 8279 [Gene]
  • LOC130060439:ATAC-STARR-seq lymphoblastoid silent region 8281 [Gene]
  • LOC130060440:ATAC-STARR-seq lymphoblastoid silent region 8282 [Gene]
  • LOC130060442:ATAC-STARR-seq lymphoblastoid silent region 8283 [Gene]
  • LOC130060444:ATAC-STARR-seq lymphoblastoid silent region 8284 [Gene]
  • LOC130060445:ATAC-STARR-seq lymphoblastoid silent region 8285 [Gene]
  • LOC130060448:ATAC-STARR-seq lymphoblastoid silent region 8286 [Gene]
  • LOC130060453:ATAC-STARR-seq lymphoblastoid silent region 8287 [Gene]
  • LOC130060455:ATAC-STARR-seq lymphoblastoid silent region 8288 [Gene]
  • LOC130060456:ATAC-STARR-seq lymphoblastoid silent region 8289 [Gene]
  • LOC130060457:ATAC-STARR-seq lymphoblastoid silent region 8290 [Gene]
  • LOC130060459:ATAC-STARR-seq lymphoblastoid silent region 8291 [Gene]
  • LOC130060460:ATAC-STARR-seq lymphoblastoid silent region 8292 [Gene]
  • LOC130060461:ATAC-STARR-seq lymphoblastoid silent region 8293 [Gene]
  • LOC130060462:ATAC-STARR-seq lymphoblastoid silent region 8294 [Gene]
  • LOC130060463:ATAC-STARR-seq lymphoblastoid silent region 8295 [Gene]
  • LOC130060464:ATAC-STARR-seq lymphoblastoid silent region 8296 [Gene]
  • LOC130060466:ATAC-STARR-seq lymphoblastoid silent region 8297 [Gene]
  • LOC130060468:ATAC-STARR-seq lymphoblastoid silent region 8298 [Gene]
  • LOC130060470:ATAC-STARR-seq lymphoblastoid silent region 8299 [Gene]
  • LOC130060473:ATAC-STARR-seq lymphoblastoid silent region 8302 [Gene]
  • LOC130060474:ATAC-STARR-seq lymphoblastoid silent region 8303 [Gene]
  • LOC130060475:ATAC-STARR-seq lymphoblastoid silent region 8304 [Gene]
  • LOC130060479:ATAC-STARR-seq lymphoblastoid silent region 8306 [Gene]
  • LOC130060480:ATAC-STARR-seq lymphoblastoid silent region 8307 [Gene]
  • LOC130060481:ATAC-STARR-seq lymphoblastoid silent region 8308 [Gene]
  • ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
  • B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
  • LOC126862514:BRD4-independent group 4 enhancer GRCh37_chr17:16419598-16420797 [Gene]
  • LOC126862515:BRD4-independent group 4 enhancer GRCh37_chr17:17349107-17350306 [Gene]
  • LOC126862516:BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 [Gene]
  • LOC126862513:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:15181646-15182845 [Gene]
  • CDRT15L2:CMT1A duplicated region transcript 15 like 2 [Gene - HGNC]
  • CDRT3:CMT1A duplicated region transcript 3 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • LOC116276455:CRISPRi-validated cis-regulatory element chr17.878 [Gene]
  • TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
  • EPN2-AS1:EPN2 antisense RNA 1 [Gene - HGNC]
  • EPN2-IT1:EPN2 intronic transcript 1 [Gene - HGNC]
  • FBXW10:F-box and WD repeat domain containing 10 [Gene - OMIM - HGNC]
  • FBXW10B:F-box and WD repeat domain containing 10B [Gene - OMIM - HGNC]
  • FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
  • GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
  • GRAPL-AS1:GRAPL antisense RNA 1 [Gene - HGNC]
  • GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
  • GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
  • LOC106020711:LCR17pA recombination region [Gene]
  • LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
  • LOC112529896:MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 [Gene]
  • LOC126862517:MED14-independent group 3 enhancer GRCh37_chr17:19656044-19657243 [Gene]
  • LOC129390841:MPRA-validated peak2750 silencer [Gene]
  • LOC129390842:MPRA-validated peak2752 silencer [Gene]
  • LOC129390843:MPRA-validated peak2757 silencer [Gene]
  • LOC111556156:NFE2L2 motif-containing MPRA enhancer 126 [Gene]
  • LOC132090457:Neanderthal introgressed variant-containing enhancer experimental_47083 [Gene]
  • LOC132090458:Neanderthal introgressed variant-containing enhancer experimental_47087 [Gene]
  • LOC132090459:Neanderthal introgressed variant-containing enhancer experimental_47104 [Gene]
  • LOC113939958:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:16946458-16947657 [Gene]
  • RAI1-AS1:RAI1 antisense RNA 1 [Gene - HGNC]
  • SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
  • SPECC1-DT:SPECC1 divergent transcript [Gene - HGNC]
  • LOC112529899:Sharpr-MPRA regulatory region 10129 [Gene]
  • LOC121587577:Sharpr-MPRA regulatory region 10193 [Gene]
  • LOC121852924:Sharpr-MPRA regulatory region 10333 [Gene]
  • LOC121587578:Sharpr-MPRA regulatory region 10806 [Gene]
  • LOC125177430:Sharpr-MPRA regulatory region 11476 [Gene]
  • LOC125177435:Sharpr-MPRA regulatory region 12190 [Gene]
  • LOC112529897:Sharpr-MPRA regulatory region 12459 [Gene]
  • LOC125177433:Sharpr-MPRA regulatory region 12990 [Gene]
  • LOC125177429:Sharpr-MPRA regulatory region 14253 [Gene]
  • LOC125177432:Sharpr-MPRA regulatory region 1571 [Gene]
  • LOC125177438:Sharpr-MPRA regulatory region 1687 [Gene]
  • LOC112529900:Sharpr-MPRA regulatory region 2370 [Gene]
  • LOC125177436:Sharpr-MPRA regulatory region 2479 [Gene]
  • LOC121852925:Sharpr-MPRA regulatory region 2588 [Gene]
  • LOC125177431:Sharpr-MPRA regulatory region 3199 [Gene]
  • LOC125177439:Sharpr-MPRA regulatory region 374 [Gene]
  • LOC112529898:Sharpr-MPRA regulatory region 4579 [Gene]
  • LOC125177437:Sharpr-MPRA regulatory region 535 [Gene]
  • LOC121587576:Sharpr-MPRA regulatory region 5503 [Gene]
  • LOC121852926:Sharpr-MPRA regulatory region 5861 [Gene]
  • LOC121587580:Sharpr-MPRA regulatory region 6133 [Gene]
  • LOC125177427:Sharpr-MPRA regulatory region 6604 [Gene]
  • LOC125177434:Sharpr-MPRA regulatory region 6800 [Gene]
  • LOC121587579:Sharpr-MPRA regulatory region 7387 [Gene]
  • LOC125177428:Sharpr-MPRA regulatory regions 7543 and 3494 [Gene]
  • SMCR2:Smith-Magenis syndrome chromosome region, candidate 2 [Gene - HGNC]
  • SMCR5:Smith-Magenis syndrome chromosome region, candidate 5 [Gene - HGNC]
  • TBC1D26:TBC1 domain family member 26 [Gene - HGNC]
  • TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
  • TBC1D26-AS1:TBC1D26 antisense RNA 1 [Gene - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • LOC110121461:VISTA enhancer hs1917 [Gene]
  • ZNF286A-TBC1D26:ZNF286A-TBC1D26 readthrough (NMD candidate) [Gene - HGNC]
  • ADORA2B:adenosine A2b receptor [Gene - OMIM - HGNC]
  • ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
  • ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
  • ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
  • CENPV:centromere protein V [Gene - OMIM - HGNC]
  • CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
  • DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
  • LOC108745275:distal SMS-REP block A recombination region [Gene]
  • LOC106020709:distal SMS-REP block C recombination region [Gene]
  • DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
  • EVPLL:envoplakin like [Gene - HGNC]
  • EPN2:epsin 2 [Gene - OMIM - HGNC]
  • FAM106A:family with sequence similarity 106 member A [Gene - HGNC]
  • FAM106B:family with sequence similarity 106 member B [Gene - HGNC]
  • FAM106C:family with sequence similarity 106 member C [Gene - HGNC]
  • FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • FOXO3B:forkhead box O3B [Gene - OMIM - HGNC]
  • LGALS9B:galectin 9B [Gene - HGNC]
  • LGALS9C:galectin 9C [Gene - HGNC]
  • LRRC75A:leucine rich repeat containing 75A [Gene - HGNC]
  • LINC02076:long intergenic non-protein coding RNA 2076 [Gene - HGNC]
  • LINC02087:long intergenic non-protein coding RNA 2087 [Gene - HGNC]
  • LINC02088:long intergenic non-protein coding RNA 2088 [Gene - HGNC]
  • LINC02090:long intergenic non-protein coding RNA 2090 [Gene - HGNC]
  • LINC02094:long intergenic non-protein coding RNA 2094 [Gene - HGNC]
  • MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
  • MIR1180:microRNA 1180 [Gene - HGNC]
  • MIR1288:microRNA 1288 [Gene - HGNC]
  • MIR33B:microRNA 33b [Gene - OMIM - HGNC]
  • MIR4731:microRNA 4731 [Gene - HGNC]
  • MIR6777:microRNA 6777 [Gene - HGNC]
  • MIR6778:microRNA 6778 [Gene - HGNC]
  • MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
  • MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
  • MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
  • MYO15A:myosin XVA [Gene - OMIM - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • NCOR1:nuclear receptor corepressor 1 [Gene - OMIM - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PIGL:phosphatidylinositol glycan anchor biosynthesis class L [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
  • LOC105943587:proximal CMT1A-REP [Gene]
  • LOC108745276:proximal SMS-REP block A recombination region [Gene]
  • LOC106020710:proximal SMS-REP block C recombination region [Gene]
  • RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
  • RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
  • RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
  • SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
  • SNHG29:small nucleolar RNA host gene 29 [Gene - HGNC]
  • SNORD163:small nucleolar RNA, C/D box 163 [Gene - HGNC]
  • SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
  • SNORD3B-1:small nucleolar RNA, C/D box 3B-1 [Gene - HGNC]
  • SNORD3B-2:small nucleolar RNA, C/D box 3B-2 [Gene - HGNC]
  • SNORD3C:small nucleolar RNA, C/D box 3C [Gene - HGNC]
  • SNORD3D:small nucleolar RNA, C/D box 3D [Gene - HGNC]
  • SNORD49A:small nucleolar RNA, C/D box 49A [Gene - HGNC]
  • SNORD49B:small nucleolar RNA, C/D box 49B [Gene - HGNC]
  • SNORD65:small nucleolar RNA, C/D box 65 [Gene - HGNC]
  • SNORA59B:small nucleolar RNA, H/ACA box 59B [Gene - HGNC]
  • SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
  • SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
  • SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]
  • SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
  • TRG-CCC3-1:tRNA-Gly (anticodon CCC) 3-1 [Gene - HGNC]
  • TRW-CCA2-1:tRNA-Trp (anticodon CCA) 2-1 [Gene - HGNC]
  • TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TTC19:tetratricopeptide repeat domain 19 [Gene - OMIM - HGNC]
  • TVP23B:trans-golgi network vesicle protein 23 homolog B [Gene - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
  • TRPV2:transient receptor potential cation channel subfamily V member 2 [Gene - OMIM - HGNC]
  • TRIM16L:tripartite motif containing 16 like [Gene - HGNC]
  • TRIM16:tripartite motif containing 16 [Gene - OMIM - HGNC]
  • UBB:ubiquitin B [Gene - OMIM - HGNC]
  • ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]
  • LOC105371566:uncharacterized LOC105371566 [Gene]
  • LOC105371574:uncharacterized LOC105371574 [Gene]
  • LOC284191:uncharacterized LOC284191 [Gene]
  • LOC102724624:uncharacterized protein ENSP00000382042-like [Gene]
  • LOC388436:uncharacterized protein ENSP00000382042 [Gene]
  • ZSWIM7:zinc finger SWIM-type containing 7 [Gene - OMIM - HGNC]
  • ZNF286A:zinc finger protein 286A [Gene - HGNC]
  • ZNF287:zinc finger protein 287 [Gene - HGNC]
  • ZNF624:zinc finger protein 624 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p12-11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3
HGVS:
  • NC_000017.11:g.(?_15234685)_(20620700_?)dup
  • NC_000017.10:g.(?_15138002)_(20524013_?)dup
  • NC_000017.9:g.(?_15078727)_(20464605_?)dup
Links:
dbVar: nssv577008; dbVar: nsv530562
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
SCV000079197ISCA site 17

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 17, SCV000079197.4

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

Last Updated: Oct 14, 2023