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GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000140235.5

Allele description [Variation Report for GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3]

GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3

Genes:
  • 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]
  • LOC130058728:ATAC-STARR-seq lymphoblastoid active region 10641 [Gene]
  • LOC130058729:ATAC-STARR-seq lymphoblastoid active region 10642 [Gene]
  • LOC130058731:ATAC-STARR-seq lymphoblastoid active region 10643 [Gene]
  • LOC130058735:ATAC-STARR-seq lymphoblastoid active region 10645 [Gene]
  • LOC130058736:ATAC-STARR-seq lymphoblastoid active region 10646 [Gene]
  • LOC130058738:ATAC-STARR-seq lymphoblastoid active region 10648 [Gene]
  • LOC130058739:ATAC-STARR-seq lymphoblastoid active region 10649 [Gene]
  • LOC130058742:ATAC-STARR-seq lymphoblastoid active region 10650 [Gene]
  • LOC130058743:ATAC-STARR-seq lymphoblastoid active region 10651 [Gene]
  • LOC130058746:ATAC-STARR-seq lymphoblastoid active region 10652 [Gene]
  • LOC130058747:ATAC-STARR-seq lymphoblastoid active region 10653 [Gene]
  • LOC130058748:ATAC-STARR-seq lymphoblastoid active region 10654 [Gene]
  • LOC130058754:ATAC-STARR-seq lymphoblastoid active region 10655 [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]
  • LOC130058726:ATAC-STARR-seq lymphoblastoid silent region 7308 [Gene]
  • LOC130058727:ATAC-STARR-seq lymphoblastoid silent region 7309 [Gene]
  • LOC130058730:ATAC-STARR-seq lymphoblastoid silent region 7310 [Gene]
  • LOC130058732:ATAC-STARR-seq lymphoblastoid silent region 7311 [Gene]
  • LOC130058733:ATAC-STARR-seq lymphoblastoid silent region 7312 [Gene]
  • LOC130058734:ATAC-STARR-seq lymphoblastoid silent region 7313 [Gene]
  • LOC130058737:ATAC-STARR-seq lymphoblastoid silent region 7314 [Gene]
  • LOC130058740:ATAC-STARR-seq lymphoblastoid silent region 7315 [Gene]
  • LOC130058741:ATAC-STARR-seq lymphoblastoid silent region 7316 [Gene]
  • LOC130058744:ATAC-STARR-seq lymphoblastoid silent region 7317 [Gene]
  • LOC130058745:ATAC-STARR-seq lymphoblastoid silent region 7318 [Gene]
  • LOC130058749:ATAC-STARR-seq lymphoblastoid silent region 7321 [Gene]
  • LOC130058750:ATAC-STARR-seq lymphoblastoid silent region 7322 [Gene]
  • LOC130058751:ATAC-STARR-seq lymphoblastoid silent region 7323 [Gene]
  • LOC130058752:ATAC-STARR-seq lymphoblastoid silent region 7324 [Gene]
  • LOC130058753:ATAC-STARR-seq lymphoblastoid silent region 7325 [Gene]
  • ATP2A1-AS1:ATP2A1 antisense RNA 1 [Gene - HGNC]
  • ATP2A1:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • 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]
  • CD19:CD19 molecule [Gene - OMIM - HGNC]
  • LOC126862321:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:27322486-27323685 [Gene]
  • CDR2-DT:CDR2 divergent transcript [Gene - HGNC]
  • CLN3:CLN3 lysosomal/endosomal transmembrane protein, battenin [Gene - OMIM - 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]
  • LOC111562378:GATA motif-containing MPRA enhancer 198 [Gene]
  • LOC111365198:GATA motif-containing MPRA enhancer 73 [Gene]
  • GSG1L:GSG1 like [Gene - OMIM - HGNC]
  • IL21R-AS1:IL21R antisense RNA 1 [Gene - HGNC]
  • LCMT1-AS1:LCMT1 antisense RNA 1 [Gene - HGNC]
  • LCMT1-AS2:LCMT1 antisense RNA 2 [Gene - HGNC]
  • 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]
  • LOC126862326:MED14-independent group 3 enhancer GRCh37_chr16:28549089-28550288 [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]
  • LOC129390779:MPRA-validated peak2550 silencer [Gene]
  • LOC129390780:MPRA-validated peak2552 silencer [Gene]
  • LOC129390781:MPRA-validated peak2553 silencer [Gene]
  • LOC129390782:MPRA-validated peak2554 silencer [Gene]
  • NDUFAB1:NADH:ubiquinone oxidoreductase subunit AB1 [Gene - OMIM - HGNC]
  • NFATC2IP-AS1:NFATC2IP antisense RNA 1 [Gene - 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]
  • 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]
  • LOC126862327:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29166386-29167585 [Gene]
  • LOC126862328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:29196056-29197255 [Gene]
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • RBBP6:RB binding protein 6, ubiquitin ligase [Gene - OMIM - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • LOC108281183:RRN3P2-SNX29P2 intergenic nontranscribed DNase I hypersensitive site-defined enhancer [Gene]
  • ARHGAP17:Rho GTPase activating protein 17 [Gene - OMIM - HGNC]
  • SGF29:SAGA complex associated factor 29 [Gene - OMIM - HGNC]
  • SH2B1:SH2B adaptor protein 1 [Gene - OMIM - HGNC]
  • SBK1:SH3 domain binding kinase 1 [Gene - OMIM - HGNC]
  • SPNS1:SPNS lysolipid transporter 1, lysophospholipid [Gene - OMIM - HGNC]
  • LOC125146436:Sharpr-MPRA regulatory region 11993 [Gene]
  • LOC112340391:Sharpr-MPRA regulatory region 12060 [Gene]
  • LOC125146430:Sharpr-MPRA regulatory region 1348 [Gene]
  • LOC125146427:Sharpr-MPRA regulatory region 14412 [Gene]
  • LOC112340390:Sharpr-MPRA regulatory region 1793 [Gene]
  • LOC125146432:Sharpr-MPRA regulatory region 2109 [Gene]
  • LOC125146428:Sharpr-MPRA regulatory region 3906 [Gene]
  • LOC112340393:Sharpr-MPRA regulatory region 4004 [Gene]
  • LOC125146437:Sharpr-MPRA regulatory region 414 [Gene]
  • LOC112340392:Sharpr-MPRA regulatory region 4245 [Gene]
  • LOC121587534:Sharpr-MPRA regulatory region 4253 [Gene]
  • LOC121587537:Sharpr-MPRA regulatory region 5139 [Gene]
  • LOC125146435:Sharpr-MPRA regulatory region 6679 [Gene]
  • LOC121587538:Sharpr-MPRA regulatory region 7417 [Gene]
  • LOC121847975:Sharpr-MPRA regulatory region 7462 [Gene]
  • LOC125146434:Sharpr-MPRA regulatory region 8309 [Gene]
  • LOC125146431:Sharpr-MPRA regulatory region 8464 [Gene]
  • LOC125146429:Sharpr-MPRA regulatory region 8546 [Gene]
  • LOC125146438:Sharpr-MPRA regulatory region 8859 [Gene]
  • LOC121587535:Sharpr-MPRA regulatory region 9346 [Gene]
  • LOC121587536:Sharpr-MPRA regulatory region 9783 [Gene]
  • LOC121587539:Sharpr-MPRA regulatory regions 5680 and 15498 [Gene]
  • TUFM:Tu translation elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • ZKSCAN2-DT:ZKSCAN2 divergent transcript [Gene - HGNC]
  • APOBR:apolipoprotein B receptor [Gene - OMIM - HGNC]
  • AQP8:aquaporin 8 [Gene - OMIM - HGNC]
  • ATXN2L:ataxin 2 like [Gene - OMIM - HGNC]
  • CHP2:calcineurin like EF-hand protein 2 [Gene - HGNC]
  • CACNG3:calcium voltage-gated channel auxiliary subunit gamma 3 [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • C16orf82:chromosome 16 open reading frame 82 [Gene - HGNC]
  • COG7:component of oligomeric golgi complex 7 [Gene - OMIM - HGNC]
  • DCTN5:dynactin subunit 5 [Gene - OMIM - HGNC]
  • ERN2:endoplasmic reticulum to nucleus signaling 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • EIF3CL:eukaryotic translation initiation factor 3 subunit C like [Gene - HGNC]
  • EIF3C:eukaryotic translation initiation factor 3 subunit C [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]
  • 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]
  • IL27:interleukin 27 [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]
  • LAT:linker for activation of T cells [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]
  • METTL9:methyltransferase 9, His-X-His N1(pi)-histidine [Gene - OMIM - HGNC]
  • MIR1273H:microRNA 1273h [Gene - HGNC]
  • MIR3680-1:microRNA 3680-1 [Gene - HGNC]
  • MIR4517:microRNA 4517 [Gene - HGNC]
  • MIR4721:microRNA 4721 [Gene - HGNC]
  • MIR548W:microRNA 548w [Gene - HGNC]
  • MIR6862-1:microRNA 6862-1 [Gene - HGNC]
  • MIR6862-2:microRNA 6862-2 [Gene - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • NFATC2IP:nuclear factor of activated T cells 2 interacting protein [Gene - OMIM - 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]
  • NPIPB6:nuclear pore complex interacting protein family member B6 [Gene - HGNC]
  • NPIPB7:nuclear pore complex interacting protein family member B7 [Gene - HGNC]
  • NPIPB8:nuclear pore complex interacting protein family member B8 [Gene - HGNC]
  • NPIPB9:nuclear pore complex interacting protein family member B9 [Gene - HGNC]
  • NUPR1:nuclear protein 1, transcriptional regulator [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]
  • PRKCB:protein kinase C beta [Gene - OMIM - HGNC]
  • RABEP2:rabaptin, RAB GTPase binding effector protein 2 [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]
  • SULT1A1:sulfotransferase family 1A member 1 [Gene - OMIM - HGNC]
  • SULT1A2:sulfotransferase family 1A member 2 [Gene - OMIM - HGNC]
  • TRL-AAG2-4:tRNA-Leu (anticodon AAG) 2-4 [Gene - HGNC]
  • TRL-TAG3-1:tRNA-Leu (anticodon TAG) 3-1 [Gene - 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]
  • LOC101927814:uncharacterized LOC101927814 [Gene]
  • LOC102723536:uncharacterized LOC102723536 [Gene]
  • LOC105371129:uncharacterized LOC105371129 [Gene]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
  • ZKSCAN2:zinc finger with KRAB and SCAN domains 2 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p12.2-11.2
Genomic location:
Preferred name:
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3
HGVS:
  • NC_000016.10:g.(?_21350622)_(29202837_?)dup
  • NC_000016.8:g.(?_21269444)_(29121659_?)dup
  • NC_000016.9:g.(?_21361943)_(29214158_?)dup
Links:
dbVar: nssv1609371; dbVar: nsv931414
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
SCV000180912ISCA site 1

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no assertion criteria provided
Likely pathogenic
(Dec 10, 2012) 		de novoclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000180912.4

#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