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GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)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:
RCV000051828.7

Allele description [Variation Report for GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3]

GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3

Genes:
  • ARL6IP1:ADP ribosylation factor like GTPase 6 interacting protein 1 [Gene - OMIM - HGNC]
  • LOC130058560:ATAC-STARR-seq lymphoblastoid active region 10499 [Gene]
  • LOC130058561:ATAC-STARR-seq lymphoblastoid active region 10500 [Gene]
  • LOC130058562:ATAC-STARR-seq lymphoblastoid active region 10501 [Gene]
  • LOC130058563:ATAC-STARR-seq lymphoblastoid active region 10502 [Gene]
  • LOC130058564:ATAC-STARR-seq lymphoblastoid active region 10503 [Gene]
  • LOC130058565:ATAC-STARR-seq lymphoblastoid active region 10504 [Gene]
  • LOC130058566:ATAC-STARR-seq lymphoblastoid active region 10505 [Gene]
  • LOC130058568:ATAC-STARR-seq lymphoblastoid active region 10506 [Gene]
  • LOC130058569:ATAC-STARR-seq lymphoblastoid active region 10507 [Gene]
  • LOC130058570:ATAC-STARR-seq lymphoblastoid active region 10508 [Gene]
  • LOC130058572:ATAC-STARR-seq lymphoblastoid active region 10509 [Gene]
  • LOC130058573:ATAC-STARR-seq lymphoblastoid active region 10510 [Gene]
  • LOC130058574:ATAC-STARR-seq lymphoblastoid active region 10511 [Gene]
  • LOC130058575:ATAC-STARR-seq lymphoblastoid active region 10512 [Gene]
  • LOC130058576:ATAC-STARR-seq lymphoblastoid active region 10513 [Gene]
  • LOC130058577:ATAC-STARR-seq lymphoblastoid active region 10514 [Gene]
  • LOC130058578:ATAC-STARR-seq lymphoblastoid active region 10515 [Gene]
  • LOC130058579:ATAC-STARR-seq lymphoblastoid active region 10516 [Gene]
  • LOC130058580:ATAC-STARR-seq lymphoblastoid active region 10517 [Gene]
  • LOC130058581:ATAC-STARR-seq lymphoblastoid active region 10519 [Gene]
  • LOC130058582:ATAC-STARR-seq lymphoblastoid active region 10520 [Gene]
  • LOC130058583:ATAC-STARR-seq lymphoblastoid active region 10521 [Gene]
  • LOC130058584:ATAC-STARR-seq lymphoblastoid active region 10522 [Gene]
  • LOC130058588:ATAC-STARR-seq lymphoblastoid active region 10523 [Gene]
  • LOC130058589:ATAC-STARR-seq lymphoblastoid active region 10524 [Gene]
  • LOC130058590:ATAC-STARR-seq lymphoblastoid active region 10525 [Gene]
  • LOC130058591:ATAC-STARR-seq lymphoblastoid active region 10526 [Gene]
  • LOC130058592:ATAC-STARR-seq lymphoblastoid active region 10527 [Gene]
  • LOC130058596:ATAC-STARR-seq lymphoblastoid active region 10529 [Gene]
  • LOC130058598:ATAC-STARR-seq lymphoblastoid active region 10530 [Gene]
  • LOC130058599:ATAC-STARR-seq lymphoblastoid active region 10534 [Gene]
  • LOC130058600:ATAC-STARR-seq lymphoblastoid active region 10535 [Gene]
  • LOC130058601:ATAC-STARR-seq lymphoblastoid active region 10536 [Gene]
  • LOC130058602:ATAC-STARR-seq lymphoblastoid active region 10537 [Gene]
  • LOC130058603:ATAC-STARR-seq lymphoblastoid active region 10538 [Gene]
  • LOC130058604:ATAC-STARR-seq lymphoblastoid active region 10539 [Gene]
  • LOC130058605:ATAC-STARR-seq lymphoblastoid active region 10541 [Gene]
  • LOC130058606:ATAC-STARR-seq lymphoblastoid active region 10543 [Gene]
  • LOC130058607:ATAC-STARR-seq lymphoblastoid active region 10544 [Gene]
  • LOC130058609:ATAC-STARR-seq lymphoblastoid active region 10545 [Gene]
  • LOC130058610:ATAC-STARR-seq lymphoblastoid active region 10546 [Gene]
  • LOC130058612:ATAC-STARR-seq lymphoblastoid active region 10547 [Gene]
  • LOC130058615:ATAC-STARR-seq lymphoblastoid active region 10548 [Gene]
  • LOC130058616:ATAC-STARR-seq lymphoblastoid active region 10549 [Gene]
  • LOC130058617:ATAC-STARR-seq lymphoblastoid active region 10550 [Gene]
  • LOC130058618:ATAC-STARR-seq lymphoblastoid active region 10551 [Gene]
  • LOC130058619:ATAC-STARR-seq lymphoblastoid active region 10552 [Gene]
  • LOC130058620:ATAC-STARR-seq lymphoblastoid active region 10553 [Gene]
  • LOC130058622:ATAC-STARR-seq lymphoblastoid active region 10556 [Gene]
  • LOC130058623:ATAC-STARR-seq lymphoblastoid active region 10557 [Gene]
  • LOC130058625:ATAC-STARR-seq lymphoblastoid active region 10558 [Gene]
  • LOC130058626:ATAC-STARR-seq lymphoblastoid active region 10559 [Gene]
  • LOC130058627:ATAC-STARR-seq lymphoblastoid active region 10560 [Gene]
  • LOC130058628:ATAC-STARR-seq lymphoblastoid active region 10562 [Gene]
  • LOC130058629:ATAC-STARR-seq lymphoblastoid active region 10565 [Gene]
  • LOC130058632:ATAC-STARR-seq lymphoblastoid active region 10566 [Gene]
  • LOC130058634:ATAC-STARR-seq lymphoblastoid active region 10567 [Gene]
  • LOC130058635:ATAC-STARR-seq lymphoblastoid active region 10568 [Gene]
  • LOC130058636:ATAC-STARR-seq lymphoblastoid active region 10569 [Gene]
  • LOC130058640:ATAC-STARR-seq lymphoblastoid active region 10570 [Gene]
  • LOC130058642:ATAC-STARR-seq lymphoblastoid active region 10571 [Gene]
  • LOC130058645:ATAC-STARR-seq lymphoblastoid active region 10572 [Gene]
  • LOC130058646:ATAC-STARR-seq lymphoblastoid active region 10573 [Gene]
  • LOC130058648:ATAC-STARR-seq lymphoblastoid active region 10574 [Gene]
  • LOC130058649:ATAC-STARR-seq lymphoblastoid active region 10575 [Gene]
  • LOC130058654:ATAC-STARR-seq lymphoblastoid active region 10576 [Gene]
  • LOC130058656:ATAC-STARR-seq lymphoblastoid active region 10577 [Gene]
  • LOC130058657:ATAC-STARR-seq lymphoblastoid active region 10578 [Gene]
  • LOC130058658:ATAC-STARR-seq lymphoblastoid active region 10580 [Gene]
  • LOC130058659:ATAC-STARR-seq lymphoblastoid active region 10581 [Gene]
  • LOC130058663:ATAC-STARR-seq lymphoblastoid active region 10582 [Gene]
  • LOC130058664:ATAC-STARR-seq lymphoblastoid active region 10583 [Gene]
  • LOC130058666:ATAC-STARR-seq lymphoblastoid active region 10585 [Gene]
  • LOC130058667:ATAC-STARR-seq lymphoblastoid active region 10586 [Gene]
  • LOC130058668:ATAC-STARR-seq lymphoblastoid active region 10589 [Gene]
  • LOC130058669:ATAC-STARR-seq lymphoblastoid active region 10590 [Gene]
  • LOC130058670:ATAC-STARR-seq lymphoblastoid active region 10591 [Gene]
  • LOC130058671:ATAC-STARR-seq lymphoblastoid active region 10592 [Gene]
  • LOC130058672:ATAC-STARR-seq lymphoblastoid active region 10593 [Gene]
  • LOC130058673:ATAC-STARR-seq lymphoblastoid active region 10594 [Gene]
  • LOC130058674:ATAC-STARR-seq lymphoblastoid active region 10595 [Gene]
  • LOC130058676:ATAC-STARR-seq lymphoblastoid active region 10596 [Gene]
  • LOC130058677:ATAC-STARR-seq lymphoblastoid active region 10597 [Gene]
  • LOC130058678:ATAC-STARR-seq lymphoblastoid active region 10598 [Gene]
  • LOC130058679:ATAC-STARR-seq lymphoblastoid active region 10599 [Gene]
  • LOC130058680:ATAC-STARR-seq lymphoblastoid active region 10600 [Gene]
  • LOC130058682:ATAC-STARR-seq lymphoblastoid active region 10601 [Gene]
  • LOC130058683:ATAC-STARR-seq lymphoblastoid active region 10602 [Gene]
  • LOC130058686:ATAC-STARR-seq lymphoblastoid active region 10605 [Gene]
  • LOC130058687:ATAC-STARR-seq lymphoblastoid active region 10606 [Gene]
  • LOC130058689:ATAC-STARR-seq lymphoblastoid active region 10607 [Gene]
  • LOC130058690:ATAC-STARR-seq lymphoblastoid active region 10608 [Gene]
  • LOC130058692:ATAC-STARR-seq lymphoblastoid active region 10609 [Gene]
  • LOC130058693:ATAC-STARR-seq lymphoblastoid active region 10610 [Gene]
  • LOC130058694:ATAC-STARR-seq lymphoblastoid active region 10611 [Gene]
  • LOC130058696:ATAC-STARR-seq lymphoblastoid active region 10612 [Gene]
  • LOC130058697:ATAC-STARR-seq lymphoblastoid active region 10613 [Gene]
  • LOC130058698:ATAC-STARR-seq lymphoblastoid active region 10614 [Gene]
  • LOC130058702:ATAC-STARR-seq lymphoblastoid active region 10615 [Gene]
  • LOC130058704:ATAC-STARR-seq lymphoblastoid active region 10616 [Gene]
  • LOC130058705:ATAC-STARR-seq lymphoblastoid active region 10617 [Gene]
  • LOC130058706:ATAC-STARR-seq lymphoblastoid active region 10618 [Gene]
  • LOC130058708:ATAC-STARR-seq lymphoblastoid active region 10622 [Gene]
  • LOC130058709:ATAC-STARR-seq lymphoblastoid active region 10623 [Gene]
  • LOC130058710:ATAC-STARR-seq lymphoblastoid active region 10624 [Gene]
  • LOC130058711:ATAC-STARR-seq lymphoblastoid active region 10625 [Gene]
  • LOC130058712:ATAC-STARR-seq lymphoblastoid active region 10626 [Gene]
  • LOC130058713:ATAC-STARR-seq lymphoblastoid active region 10627 [Gene]
  • LOC130058714:ATAC-STARR-seq lymphoblastoid active region 10630 [Gene]
  • LOC130058715:ATAC-STARR-seq lymphoblastoid active region 10631 [Gene]
  • LOC130058716:ATAC-STARR-seq lymphoblastoid active region 10632 [Gene]
  • LOC130058717:ATAC-STARR-seq lymphoblastoid active region 10633 [Gene]
  • LOC130058718:ATAC-STARR-seq lymphoblastoid active region 10634 [Gene]
  • LOC130058719:ATAC-STARR-seq lymphoblastoid active region 10635 [Gene]
  • LOC130058720:ATAC-STARR-seq lymphoblastoid active region 10636 [Gene]
  • LOC130058721:ATAC-STARR-seq lymphoblastoid active region 10637 [Gene]
  • LOC130058722:ATAC-STARR-seq lymphoblastoid active region 10638 [Gene]
  • LOC130058724:ATAC-STARR-seq lymphoblastoid active region 10639 [Gene]
  • LOC130058567:ATAC-STARR-seq lymphoblastoid silent region 7235 [Gene]
  • LOC130058571:ATAC-STARR-seq lymphoblastoid silent region 7236 [Gene]
  • LOC130058585:ATAC-STARR-seq lymphoblastoid silent region 7237 [Gene]
  • LOC130058586:ATAC-STARR-seq lymphoblastoid silent region 7239 [Gene]
  • LOC130058587:ATAC-STARR-seq lymphoblastoid silent region 7240 [Gene]
  • LOC130058593:ATAC-STARR-seq lymphoblastoid silent region 7241 [Gene]
  • LOC130058594:ATAC-STARR-seq lymphoblastoid silent region 7242 [Gene]
  • LOC130058595:ATAC-STARR-seq lymphoblastoid silent region 7243 [Gene]
  • LOC130058597:ATAC-STARR-seq lymphoblastoid silent region 7244 [Gene]
  • LOC130058608:ATAC-STARR-seq lymphoblastoid silent region 7246 [Gene]
  • LOC130058611:ATAC-STARR-seq lymphoblastoid silent region 7247 [Gene]
  • LOC130058613:ATAC-STARR-seq lymphoblastoid silent region 7248 [Gene]
  • LOC130058614:ATAC-STARR-seq lymphoblastoid silent region 7249 [Gene]
  • LOC130058621:ATAC-STARR-seq lymphoblastoid silent region 7250 [Gene]
  • LOC130058624:ATAC-STARR-seq lymphoblastoid silent region 7257 [Gene]
  • LOC130058630:ATAC-STARR-seq lymphoblastoid silent region 7258 [Gene]
  • LOC130058631:ATAC-STARR-seq lymphoblastoid silent region 7259 [Gene]
  • LOC130058633:ATAC-STARR-seq lymphoblastoid silent region 7260 [Gene]
  • LOC130058637:ATAC-STARR-seq lymphoblastoid silent region 7263 [Gene]
  • LOC130058638:ATAC-STARR-seq lymphoblastoid silent region 7264 [Gene]
  • LOC130058639:ATAC-STARR-seq lymphoblastoid silent region 7265 [Gene]
  • LOC130058641:ATAC-STARR-seq lymphoblastoid silent region 7267 [Gene]
  • LOC130058643:ATAC-STARR-seq lymphoblastoid silent region 7268 [Gene]
  • LOC130058644:ATAC-STARR-seq lymphoblastoid silent region 7269 [Gene]
  • LOC130058647:ATAC-STARR-seq lymphoblastoid silent region 7270 [Gene]
  • LOC130058650:ATAC-STARR-seq lymphoblastoid silent region 7271 [Gene]
  • LOC130058651:ATAC-STARR-seq lymphoblastoid silent region 7272 [Gene]
  • LOC130058652:ATAC-STARR-seq lymphoblastoid silent region 7273 [Gene]
  • LOC130058653:ATAC-STARR-seq lymphoblastoid silent region 7274 [Gene]
  • LOC130058655:ATAC-STARR-seq lymphoblastoid silent region 7275 [Gene]
  • LOC130058660:ATAC-STARR-seq lymphoblastoid silent region 7276 [Gene]
  • LOC130058661:ATAC-STARR-seq lymphoblastoid silent region 7277 [Gene]
  • LOC130058662:ATAC-STARR-seq lymphoblastoid silent region 7278 [Gene]
  • LOC130058665:ATAC-STARR-seq lymphoblastoid silent region 7281 [Gene]
  • LOC130058675:ATAC-STARR-seq lymphoblastoid silent region 7285 [Gene]
  • LOC130058681:ATAC-STARR-seq lymphoblastoid silent region 7288 [Gene]
  • LOC130058684:ATAC-STARR-seq lymphoblastoid silent region 7293 [Gene]
  • LOC130058685:ATAC-STARR-seq lymphoblastoid silent region 7294 [Gene]
  • LOC130058688:ATAC-STARR-seq lymphoblastoid silent region 7296 [Gene]
  • LOC130058691:ATAC-STARR-seq lymphoblastoid silent region 7297 [Gene]
  • LOC130058695:ATAC-STARR-seq lymphoblastoid silent region 7298 [Gene]
  • LOC130058699:ATAC-STARR-seq lymphoblastoid silent region 7299 [Gene]
  • LOC130058700:ATAC-STARR-seq lymphoblastoid silent region 7301 [Gene]
  • LOC130058701:ATAC-STARR-seq lymphoblastoid silent region 7302 [Gene]
  • LOC130058703:ATAC-STARR-seq lymphoblastoid silent region 7303 [Gene]
  • LOC130058707:ATAC-STARR-seq lymphoblastoid silent region 7304 [Gene]
  • LOC130058723:ATAC-STARR-seq lymphoblastoid silent region 7305 [Gene]
  • LOC130058725:ATAC-STARR-seq lymphoblastoid silent region 7307 [Gene]
  • ABCC1:ATP binding cassette subfamily C member 1 (ABCC1 blood group) [Gene - OMIM - HGNC]
  • ABCC6:ATP binding cassette subfamily C member 6 [Gene - OMIM - HGNC]
  • LOC121587532:BRD4-independent group 4 enhancer GRCh37_chr16:15972689-15973888 [Gene]
  • LOC126862301:BRD4-independent group 4 enhancer GRCh37_chr16:17156208-17157407 [Gene]
  • LOC126862304:BRD4-independent group 4 enhancer GRCh37_chr16:17700860-17702059 [Gene]
  • LOC126862308:BRD4-independent group 4 enhancer GRCh37_chr16:19869508-19870707 [Gene]
  • LOC126862317:BRD4-independent group 4 enhancer GRCh37_chr16:25580065-25581264 [Gene]
  • LOC126862319:BRD4-independent group 4 enhancer GRCh37_chr16:25899968-25901167 [Gene]
  • LOC126862325:BRD4-independent group 4 enhancer GRCh37_chr16:28030002-28031201 [Gene]
  • CLEC19A:C-type lectin domain containing 19A [Gene - HGNC]
  • LOC126862299:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:15693082-15694281 [Gene]
  • LOC126862302:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:17498817-17500016 [Gene]
  • LOC126862306:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:19404552-19405751 [Gene]
  • LOC126862312:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:20982344-20983543 [Gene]
  • LOC126862321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 [Gene]
  • CDR2-DT:CDR2 divergent transcript [Gene - HGNC]
  • COQ7-DT:COQ7 divergent transcript [Gene - HGNC]
  • LOC116276449:CRISPRi-validated cis-regulatory element chr16.1865 [Gene]
  • LOC116276450:CRISPRi-validated cis-regulatory element chr16.1866 [Gene]
  • LOC116276451:CRISPRi-validated cis-regulatory element chr16.1867 [Gene]
  • CRYM-AS1:CRYM antisense RNA 1 [Gene - HGNC]
  • ERI2:ERI1 exoribonuclease family member 2 [Gene - HGNC]
  • GPR139:G protein-coupled receptor 139 [Gene - OMIM - HGNC]
  • GPRC5B:G protein-coupled receptor class C group 5 member B [Gene - OMIM - HGNC]
  • LOC111562378:GATA motif-containing MPRA enhancer 198 [Gene]
  • LOC111365198:GATA motif-containing MPRA enhancer 73 [Gene]
  • LOC111365165:GATA motif-containing MPRA enhancer 79/80 [Gene]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • IL21R-AS1:IL21R antisense RNA 1 [Gene - HGNC]
  • IQCK:IQ motif containing K [Gene - HGNC]
  • ITPRIPL2:ITPRIP like 2 [Gene - HGNC]
  • LCMT1-AS1:LCMT1 antisense RNA 1 [Gene - HGNC]
  • LCMT1-AS2:LCMT1 antisense RNA 2 [Gene - HGNC]
  • LYRM1:LYR motif containing 1 [Gene - OMIM - HGNC]
  • LOC126862307:MED14-independent group 3 enhancer GRCh37_chr16:19620544-19621743 [Gene]
  • LOC126862309:MED14-independent group 3 enhancer GRCh37_chr16:20031023-20032222 [Gene]
  • LOC126862310:MED14-independent group 3 enhancer GRCh37_chr16:20615165-20616364 [Gene]
  • LOC126862311:MED14-independent group 3 enhancer GRCh37_chr16:20876915-20878114 [Gene]
  • LOC126862313:MED14-independent group 3 enhancer GRCh37_chr16:22037440-22038639 [Gene]
  • LOC126862314:MED14-independent group 3 enhancer GRCh37_chr16:24257631-24258830 [Gene]
  • LOC126862315:MED14-independent group 3 enhancer GRCh37_chr16:24392929-24394128 [Gene]
  • LOC125146433:MED14-independent group 3 enhancer GRCh37_chr16:25564716-25565915 [Gene]
  • LOC126862320:MED14-independent group 3 enhancer GRCh37_chr16:26137874-26139073 [Gene]
  • LOC129390770:MPRA-validated peak2507 silencer [Gene]
  • LOC129390771:MPRA-validated peak2509 silencer [Gene]
  • LOC129390772:MPRA-validated peak2513 silencer [Gene]
  • LOC129390773:MPRA-validated peak2522 silencer [Gene]
  • LOC129390774:MPRA-validated peak2534 silencer [Gene]
  • LOC129390775:MPRA-validated peak2541 silencer [Gene]
  • LOC129390776:MPRA-validated peak2542 silencer [Gene]
  • LOC129390777:MPRA-validated peak2546 silencer [Gene]
  • LOC129390778:MPRA-validated peak2549 silencer [Gene]
  • MPV17L:MPV17 mitochondrial inner membrane protein like [Gene - OMIM - HGNC]
  • MPV17L-BMERB1:MPV17L-BMERB1 readthrough [Gene]
  • NTAN1:N-terminal asparagine amidase [Gene - OMIM - HGNC]
  • NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
  • NOMO2:NODAL modulator 2 [Gene - OMIM - HGNC]
  • NOMO3:NODAL modulator 3 [Gene - OMIM - HGNC]
  • NSMCE1:NSE1 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • NSMCE1-DT:NSMCE1 divergent transcript [Gene - HGNC]
  • LOC132090371:Neanderthal introgressed variant-containing enhancer experimental_43023 [Gene]
  • LOC132090372:Neanderthal introgressed variant-containing enhancer experimental_43111 [Gene]
  • LOC132090373:Neanderthal introgressed variant-containing enhancer experimental_43156 [Gene]
  • LOC126862298:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15587399-15588598 [Gene]
  • LOC121847972:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15684383-15685582 [Gene]
  • LOC126862300:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:15993095-15994294 [Gene]
  • LOC126862303:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17665142-17666341 [Gene]
  • LOC126862305:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:17930405-17931604 [Gene]
  • LOC126862316:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:25453167-25454366 [Gene]
  • LOC126862318:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:25644366-25645565 [Gene]
  • LOC126862322:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27376379-27377578 [Gene]
  • LOC126862323:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:27780758-27781957 [Gene]
  • LOC126862324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:28004462-28005661 [Gene]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • LOC131696449:PKD1P1-NPIPA5L readthrough [Gene]
  • RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
  • REXO5:RNA exonuclease 5 [Gene - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • RRN3:RRN3 homolog, RNA polymerase I transcription factor [Gene - OMIM - HGNC]
  • ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
  • SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
  • SMG1:SMG1 nonsense mediated mRNA decay associated PI3K related kinase [Gene - OMIM - HGNC]
  • LOC121847974:Sharpr-MPRA regulatory region 10247 [Gene]
  • LOC121847973:Sharpr-MPRA regulatory region 10508 [Gene]
  • LOC112340385:Sharpr-MPRA regulatory region 10538 [Gene]
  • LOC125146424:Sharpr-MPRA regulatory region 10772 [Gene]
  • LOC112340383:Sharpr-MPRA regulatory region 11301 [Gene]
  • LOC125146436:Sharpr-MPRA regulatory region 11993 [Gene]
  • LOC112340391:Sharpr-MPRA regulatory region 12060 [Gene]
  • LOC112340381:Sharpr-MPRA regulatory region 12074 [Gene]
  • LOC121587533:Sharpr-MPRA regulatory region 12181 [Gene]
  • LOC125146430:Sharpr-MPRA regulatory region 1348 [Gene]
  • LOC112340379:Sharpr-MPRA regulatory region 1380 [Gene]
  • LOC112340378:Sharpr-MPRA regulatory region 13846 [Gene]
  • LOC125146427:Sharpr-MPRA regulatory region 14412 [Gene]
  • LOC125146421:Sharpr-MPRA regulatory region 15590 [Gene]
  • LOC112340390:Sharpr-MPRA regulatory region 1793 [Gene]
  • LOC112340389:Sharpr-MPRA regulatory region 1818 [Gene]
  • LOC112340377:Sharpr-MPRA regulatory region 1947 [Gene]
  • LOC125146432:Sharpr-MPRA regulatory region 2109 [Gene]
  • LOC125146428:Sharpr-MPRA regulatory region 3906 [Gene]
  • LOC121587534:Sharpr-MPRA regulatory region 4253 [Gene]
  • LOC125146418:Sharpr-MPRA regulatory region 4661 [Gene]
  • LOC112340382:Sharpr-MPRA regulatory region 4662 [Gene]
  • LOC121587537:Sharpr-MPRA regulatory region 5139 [Gene]
  • LOC113939949:Sharpr-MPRA regulatory region 5546 [Gene]
  • LOC125146435:Sharpr-MPRA regulatory region 6679 [Gene]
  • LOC125146419:Sharpr-MPRA regulatory region 7034 [Gene]
  • LOC121587538:Sharpr-MPRA regulatory region 7417 [Gene]
  • LOC121847975:Sharpr-MPRA regulatory region 7462 [Gene]
  • LOC125146420:Sharpr-MPRA regulatory region 7660 [Gene]
  • LOC125146423:Sharpr-MPRA regulatory region 8054 [Gene]
  • LOC125146434:Sharpr-MPRA regulatory region 8309 [Gene]
  • LOC125146431:Sharpr-MPRA regulatory region 8464 [Gene]
  • LOC125146429:Sharpr-MPRA regulatory region 8546 [Gene]
  • LOC121587535:Sharpr-MPRA regulatory region 9346 [Gene]
  • LOC112340380:Sharpr-MPRA regulatory region 9672 [Gene]
  • LOC121587536:Sharpr-MPRA regulatory region 9783 [Gene]
  • LOC121587539:Sharpr-MPRA regulatory regions 5680 and 15498 [Gene]
  • THUMPD1:THUMP domain containing 1 [Gene - OMIM - HGNC]
  • VPS35L:VPS35 endosomal protein sorting factor like [Gene - OMIM - HGNC]
  • ZKSCAN2-DT:ZKSCAN2 divergent transcript [Gene - HGNC]
  • ACSM1:acyl-CoA synthetase medium chain family member 1 [Gene - OMIM - HGNC]
  • ACSM2A:acyl-CoA synthetase medium chain family member 2A [Gene - OMIM - HGNC]
  • ACSM2B:acyl-CoA synthetase medium chain family member 2B [Gene - OMIM - HGNC]
  • ACSM3:acyl-CoA synthetase medium chain family member 3 [Gene - OMIM - HGNC]
  • ACSM5:acyl-CoA synthetase medium chain family member 5 [Gene - OMIM - HGNC]
  • ANKS4B:ankyrin repeat and sterile alpha motif domain containing 4B [Gene - OMIM - HGNC]
  • AQP8:aquaporin 8 [Gene - OMIM - HGNC]
  • BMERB1:bMERB domain containing 1 [Gene - HGNC]
  • CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
  • CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
  • CCP110:centriolar coiled-coil protein 110 [Gene - OMIM - HGNC]
  • CEP20:centrosomal protein 20 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • COQ7:coenzyme Q7, hydroxylase [Gene - OMIM - HGNC]
  • COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
  • CRYM:crystallin mu [Gene - OMIM - HGNC]
  • DCUN1D3:defective in cullin neddylation 1 domain containing 3 [Gene - OMIM - HGNC]
  • DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
  • DNAH3:dynein axonemal heavy chain 3 [Gene - OMIM - HGNC]
  • ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • XPO6:exportin 6 [Gene - OMIM - HGNC]
  • GTF3C1:general transcription factor IIIC subunit 1 [Gene - OMIM - HGNC]
  • EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • GDE1:glycerophosphodiester phosphodiesterase 1 [Gene - OMIM - HGNC]
  • GP2:glycoprotein 2 [Gene - OMIM - HGNC]
  • GGA2:golgi associated, gamma adaptin ear containing, ARF binding protein 2 [Gene - OMIM - HGNC]
  • HS3ST2:heparan sulfate-glucosamine 3-sulfotransferase 2 [Gene - OMIM - HGNC]
  • HS3ST4:heparan sulfate-glucosamine 3-sulfotransferase 4 [Gene - OMIM - HGNC]
  • IGSF6:immunoglobulin superfamily member 6 [Gene - OMIM - HGNC]
  • IL21R:interleukin 21 receptor [Gene - OMIM - HGNC]
  • IL4R:interleukin 4 receptor [Gene - OMIM - HGNC]
  • KATNIP:katanin interacting protein [Gene - OMIM - HGNC]
  • LCMT1:leucine carboxyl methyltransferase 1 [Gene - OMIM - HGNC]
  • LDAF1:lipid droplet assembly factor 1 [Gene - OMIM - HGNC]
  • LINC01567:long intergenic non-protein coding RNA 1567 [Gene - HGNC]
  • LINC02129:long intergenic non-protein coding RNA 2129 [Gene - HGNC]
  • LINC02175:long intergenic non-protein coding RNA 2175 [Gene - HGNC]
  • LINC02191:long intergenic non-protein coding RNA 2191 [Gene - HGNC]
  • LINC02194:long intergenic non-protein coding RNA 2194 [Gene - HGNC]
  • LINC02195:long intergenic non-protein coding RNA 2195 [Gene - HGNC]
  • LINC02890:long intergenic non-protein coding RNA 2890 [Gene - HGNC]
  • KDM8:lysine demethylase 8 [Gene - OMIM - HGNC]
  • KNOP1:lysine rich nucleolar protein 1 [Gene - HGNC]
  • MARF1:meiosis regulator and mRNA stability factor 1 [Gene - OMIM - HGNC]
  • METTL9:methyltransferase 9, His-X-His N1(pi)-histidine [Gene - OMIM - HGNC]
  • MIR1273H:microRNA 1273h [Gene - HGNC]
  • MIR1972-1:microRNA 1972-1 [Gene - HGNC]
  • MIR3179-2:microRNA 3179-2 [Gene - HGNC]
  • MIR3179-3:microRNA 3179-3 [Gene - HGNC]
  • MIR3179-4:microRNA 3179-4 [Gene - HGNC]
  • MIR3180-2:microRNA 3180-2 [Gene - HGNC]
  • MIR3180-3:microRNA 3180-3 [Gene - HGNC]
  • MIR3180-4:microRNA 3180-4 [Gene - HGNC]
  • MIR3670-2:microRNA 3670-2 [Gene - HGNC]
  • MIR3670-3:microRNA 3670-3 [Gene - HGNC]
  • MIR3670-4:microRNA 3670-4 [Gene - HGNC]
  • MIR3680-1:microRNA 3680-1 [Gene - HGNC]
  • MIR484:microRNA 484 [Gene - HGNC]
  • MIR548W:microRNA 548w [Gene - HGNC]
  • MIR6506:microRNA 6506 [Gene - HGNC]
  • MIR6511A2:microRNA 6511a-2 [Gene - HGNC]
  • MIR6511A3:microRNA 6511a-3 [Gene - HGNC]
  • MIR6511A4:microRNA 6511a-4 [Gene - HGNC]
  • MIR6511B2:microRNA 6511b-2 [Gene - HGNC]
  • MIR6770-2:microRNA 6770-2 [Gene - HGNC]
  • MIR6770-3:microRNA 6770-3 [Gene - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
  • NPIPA5:nuclear pore complex interacting protein family member A5 [Gene - HGNC]
  • NPIPA7:nuclear pore complex interacting protein family member A7 [Gene - HGNC]
  • NPIPA8:nuclear pore complex interacting protein family member A8 [Gene - HGNC]
  • NPIPB3:nuclear pore complex interacting protein family member B3 [Gene - OMIM - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • NPIPB5:nuclear pore complex interacting protein family member B5 [Gene - HGNC]
  • NPIPA6:nuclear pore complex interacting protein family, member A6 [Gene - HGNC]
  • NPIPA9:nuclear pore complex interacting protein family, member A9 [Gene - HGNC]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]
  • OTOA:otoancorin [Gene - OMIM - HGNC]
  • PALB2:partner and localizer of BRCA2 [Gene - OMIM - HGNC]
  • PLK1:polo like kinase 1 [Gene - OMIM - HGNC]
  • PDILT:protein disulfide isomerase like, testis expressed [Gene - OMIM - HGNC]
  • PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
  • PDXDC1:pyridoxal dependent decarboxylase domain containing 1 [Gene - OMIM - HGNC]
  • RPS15A:ribosomal protein S15a [Gene - OMIM - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • SCNN1B:sodium channel epithelial 1 subunit beta [Gene - OMIM - HGNC]
  • SCNN1G:sodium channel epithelial 1 subunit gamma [Gene - OMIM - HGNC]
  • SLC5A11:solute carrier family 5 member 11 [Gene - OMIM - HGNC]
  • SYT17:synaptotagmin 17 [Gene - HGNC]
  • TRL-AAG2-4:tRNA-Leu (anticodon AAG) 2-4 [Gene - HGNC]
  • TRL-TAG3-1:tRNA-Leu (anticodon TAG) 3-1 [Gene - HGNC]
  • TMC5:transmembrane channel like 5 [Gene - OMIM - HGNC]
  • TMC7:transmembrane channel like 7 [Gene - OMIM - HGNC]
  • TNRC6A:trinucleotide repeat containing adaptor 6A [Gene - OMIM - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • UBFD1:ubiquitin family domain containing 1 [Gene - HGNC]
  • USP31:ubiquitin specific peptidase 31 [Gene - OMIM - HGNC]
  • LOC100128079:uncharacterized LOC100128079 [Gene]
  • LOC100190986:uncharacterized LOC100190986 [Gene]
  • LOC100505915:uncharacterized LOC100505915 [Gene]
  • LOC101927814:uncharacterized LOC101927814 [Gene]
  • LOC102723536:uncharacterized LOC102723536 [Gene]
  • LOC102723692:uncharacterized LOC102723692 [Gene]
  • LOC105371114:uncharacterized LOC105371114 [Gene]
  • LOC105371115:uncharacterized LOC105371115 [Gene]
  • LOC105371129:uncharacterized LOC105371129 [Gene]
  • UMOD:uromodulin [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • XYLT1:xylosyltransferase 1 [Gene - OMIM - HGNC]
  • ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
  • ZP2:zona pellucida glycoprotein 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p13.11-12.1
Genomic location:
Preferred name:
GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3
HGVS:
  • NC_000016.10:g.(?_14954894)_(28306843_?)dup
  • NC_000016.8:g.(?_14956252)_(28225665_?)dup
  • NC_000016.9:g.(?_15048751)_(28318164_?)dup
Links:
dbVar: nssv576994; dbVar: nsv530350
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
SCV000079176ISCA site 4

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000079176.5

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

Last Updated: May 7, 2024