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GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)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:
RCV000052923.6

Allele description [Variation Report for GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1]

GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1

Genes:
  • LOC130002616:ATAC-STARR-seq lymphoblastoid active region 29016 [Gene]
  • LOC130002618:ATAC-STARR-seq lymphoblastoid active region 29018 [Gene]
  • LOC130002622:ATAC-STARR-seq lymphoblastoid active region 29019 [Gene]
  • LOC130002623:ATAC-STARR-seq lymphoblastoid active region 29020 [Gene]
  • LOC130002624:ATAC-STARR-seq lymphoblastoid active region 29021 [Gene]
  • LOC130002625:ATAC-STARR-seq lymphoblastoid active region 29022 [Gene]
  • LOC130002626:ATAC-STARR-seq lymphoblastoid active region 29023 [Gene]
  • LOC130002630:ATAC-STARR-seq lymphoblastoid active region 29024 [Gene]
  • LOC130002631:ATAC-STARR-seq lymphoblastoid active region 29025 [Gene]
  • LOC130002632:ATAC-STARR-seq lymphoblastoid active region 29026 [Gene]
  • LOC130002633:ATAC-STARR-seq lymphoblastoid active region 29027 [Gene]
  • LOC130002634:ATAC-STARR-seq lymphoblastoid active region 29028 [Gene]
  • LOC130002635:ATAC-STARR-seq lymphoblastoid active region 29029 [Gene]
  • LOC130002636:ATAC-STARR-seq lymphoblastoid active region 29030 [Gene]
  • LOC130002637:ATAC-STARR-seq lymphoblastoid active region 29031 [Gene]
  • LOC130002638:ATAC-STARR-seq lymphoblastoid active region 29032 [Gene]
  • LOC130002639:ATAC-STARR-seq lymphoblastoid active region 29034 [Gene]
  • LOC130002640:ATAC-STARR-seq lymphoblastoid active region 29035 [Gene]
  • LOC130002643:ATAC-STARR-seq lymphoblastoid active region 29037 [Gene]
  • LOC130002647:ATAC-STARR-seq lymphoblastoid active region 29040 [Gene]
  • LOC130002648:ATAC-STARR-seq lymphoblastoid active region 29041 [Gene]
  • LOC130002649:ATAC-STARR-seq lymphoblastoid active region 29042 [Gene]
  • LOC130002652:ATAC-STARR-seq lymphoblastoid active region 29044 [Gene]
  • LOC130002653:ATAC-STARR-seq lymphoblastoid active region 29045 [Gene]
  • LOC130002654:ATAC-STARR-seq lymphoblastoid active region 29046 [Gene]
  • LOC130002655:ATAC-STARR-seq lymphoblastoid active region 29047 [Gene]
  • LOC130002658:ATAC-STARR-seq lymphoblastoid active region 29049 [Gene]
  • LOC130002659:ATAC-STARR-seq lymphoblastoid active region 29050 [Gene]
  • LOC130002660:ATAC-STARR-seq lymphoblastoid active region 29052 [Gene]
  • LOC130002662:ATAC-STARR-seq lymphoblastoid active region 29053 [Gene]
  • LOC130002664:ATAC-STARR-seq lymphoblastoid active region 29056 [Gene]
  • LOC130002668:ATAC-STARR-seq lymphoblastoid active region 29057 [Gene]
  • LOC130002669:ATAC-STARR-seq lymphoblastoid active region 29058 [Gene]
  • LOC130002670:ATAC-STARR-seq lymphoblastoid active region 29059 [Gene]
  • LOC130002671:ATAC-STARR-seq lymphoblastoid active region 29060 [Gene]
  • LOC130002672:ATAC-STARR-seq lymphoblastoid active region 29061 [Gene]
  • LOC130002675:ATAC-STARR-seq lymphoblastoid active region 29062 [Gene]
  • LOC130002676:ATAC-STARR-seq lymphoblastoid active region 29063 [Gene]
  • LOC130002678:ATAC-STARR-seq lymphoblastoid active region 29064 [Gene]
  • LOC130002679:ATAC-STARR-seq lymphoblastoid active region 29065 [Gene]
  • LOC130002680:ATAC-STARR-seq lymphoblastoid active region 29066 [Gene]
  • LOC130002681:ATAC-STARR-seq lymphoblastoid active region 29067 [Gene]
  • LOC130002684:ATAC-STARR-seq lymphoblastoid active region 29068 [Gene]
  • LOC130002685:ATAC-STARR-seq lymphoblastoid active region 29069 [Gene]
  • LOC130002687:ATAC-STARR-seq lymphoblastoid active region 29070 [Gene]
  • LOC130002688:ATAC-STARR-seq lymphoblastoid active region 29071 [Gene]
  • LOC130002689:ATAC-STARR-seq lymphoblastoid active region 29072 [Gene]
  • LOC130002691:ATAC-STARR-seq lymphoblastoid active region 29073 [Gene]
  • LOC130002695:ATAC-STARR-seq lymphoblastoid active region 29074 [Gene]
  • LOC130002697:ATAC-STARR-seq lymphoblastoid active region 29075 [Gene]
  • LOC130002700:ATAC-STARR-seq lymphoblastoid active region 29076 [Gene]
  • LOC130002702:ATAC-STARR-seq lymphoblastoid active region 29077 [Gene]
  • LOC130002703:ATAC-STARR-seq lymphoblastoid active region 29078 [Gene]
  • LOC130002706:ATAC-STARR-seq lymphoblastoid active region 29079 [Gene]
  • LOC130002707:ATAC-STARR-seq lymphoblastoid active region 29080 [Gene]
  • LOC130002709:ATAC-STARR-seq lymphoblastoid active region 29081 [Gene]
  • LOC130002711:ATAC-STARR-seq lymphoblastoid active region 29084 [Gene]
  • LOC130002713:ATAC-STARR-seq lymphoblastoid active region 29085 [Gene]
  • LOC130002714:ATAC-STARR-seq lymphoblastoid active region 29086 [Gene]
  • LOC130002715:ATAC-STARR-seq lymphoblastoid active region 29088 [Gene]
  • LOC130002716:ATAC-STARR-seq lymphoblastoid active region 29089 [Gene]
  • LOC130002717:ATAC-STARR-seq lymphoblastoid active region 29090 [Gene]
  • LOC130002721:ATAC-STARR-seq lymphoblastoid active region 29091 [Gene]
  • LOC130002726:ATAC-STARR-seq lymphoblastoid active region 29093 [Gene]
  • LOC130002727:ATAC-STARR-seq lymphoblastoid active region 29094 [Gene]
  • LOC130002729:ATAC-STARR-seq lymphoblastoid active region 29095 [Gene]
  • LOC130002730:ATAC-STARR-seq lymphoblastoid active region 29098 [Gene]
  • LOC130002731:ATAC-STARR-seq lymphoblastoid active region 29099 [Gene]
  • LOC130002732:ATAC-STARR-seq lymphoblastoid active region 29100 [Gene]
  • LOC130002734:ATAC-STARR-seq lymphoblastoid active region 29101 [Gene]
  • LOC130002735:ATAC-STARR-seq lymphoblastoid active region 29102 [Gene]
  • LOC130002738:ATAC-STARR-seq lymphoblastoid active region 29104 [Gene]
  • LOC130002739:ATAC-STARR-seq lymphoblastoid active region 29107 [Gene]
  • LOC130002740:ATAC-STARR-seq lymphoblastoid active region 29108 [Gene]
  • LOC130002746:ATAC-STARR-seq lymphoblastoid active region 29110 [Gene]
  • LOC130002748:ATAC-STARR-seq lymphoblastoid active region 29111 [Gene]
  • LOC130002755:ATAC-STARR-seq lymphoblastoid active region 29112 [Gene]
  • LOC130002757:ATAC-STARR-seq lymphoblastoid active region 29113 [Gene]
  • LOC130002758:ATAC-STARR-seq lymphoblastoid active region 29114 [Gene]
  • LOC130002760:ATAC-STARR-seq lymphoblastoid active region 29115 [Gene]
  • LOC130002763:ATAC-STARR-seq lymphoblastoid active region 29117 [Gene]
  • LOC130002764:ATAC-STARR-seq lymphoblastoid active region 29118 [Gene]
  • LOC130002612:ATAC-STARR-seq lymphoblastoid silent region 20285 [Gene]
  • LOC130002613:ATAC-STARR-seq lymphoblastoid silent region 20286 [Gene]
  • LOC130002614:ATAC-STARR-seq lymphoblastoid silent region 20287 [Gene]
  • LOC130002615:ATAC-STARR-seq lymphoblastoid silent region 20288 [Gene]
  • LOC130002617:ATAC-STARR-seq lymphoblastoid silent region 20289 [Gene]
  • LOC130002619:ATAC-STARR-seq lymphoblastoid silent region 20290 [Gene]
  • LOC130002620:ATAC-STARR-seq lymphoblastoid silent region 20291 [Gene]
  • LOC130002621:ATAC-STARR-seq lymphoblastoid silent region 20292 [Gene]
  • LOC130002627:ATAC-STARR-seq lymphoblastoid silent region 20293 [Gene]
  • LOC130002628:ATAC-STARR-seq lymphoblastoid silent region 20294 [Gene]
  • LOC130002629:ATAC-STARR-seq lymphoblastoid silent region 20297 [Gene]
  • LOC130002641:ATAC-STARR-seq lymphoblastoid silent region 20299 [Gene]
  • LOC130002642:ATAC-STARR-seq lymphoblastoid silent region 20300 [Gene]
  • LOC130002644:ATAC-STARR-seq lymphoblastoid silent region 20301 [Gene]
  • LOC130002645:ATAC-STARR-seq lymphoblastoid silent region 20302 [Gene]
  • LOC130002646:ATAC-STARR-seq lymphoblastoid silent region 20303 [Gene]
  • LOC130002650:ATAC-STARR-seq lymphoblastoid silent region 20304 [Gene]
  • LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [Gene]
  • LOC130002656:ATAC-STARR-seq lymphoblastoid silent region 20308 [Gene]
  • LOC130002657:ATAC-STARR-seq lymphoblastoid silent region 20309 [Gene]
  • LOC130002661:ATAC-STARR-seq lymphoblastoid silent region 20310 [Gene]
  • LOC130002663:ATAC-STARR-seq lymphoblastoid silent region 20313 [Gene]
  • LOC130002665:ATAC-STARR-seq lymphoblastoid silent region 20314 [Gene]
  • LOC130002666:ATAC-STARR-seq lymphoblastoid silent region 20315 [Gene]
  • LOC130002667:ATAC-STARR-seq lymphoblastoid silent region 20316 [Gene]
  • LOC130002673:ATAC-STARR-seq lymphoblastoid silent region 20317 [Gene]
  • LOC130002674:ATAC-STARR-seq lymphoblastoid silent region 20318 [Gene]
  • LOC130002677:ATAC-STARR-seq lymphoblastoid silent region 20319 [Gene]
  • LOC130002682:ATAC-STARR-seq lymphoblastoid silent region 20320 [Gene]
  • LOC130002683:ATAC-STARR-seq lymphoblastoid silent region 20321 [Gene]
  • LOC130002686:ATAC-STARR-seq lymphoblastoid silent region 20323 [Gene]
  • LOC130002690:ATAC-STARR-seq lymphoblastoid silent region 20324 [Gene]
  • LOC130002692:ATAC-STARR-seq lymphoblastoid silent region 20325 [Gene]
  • LOC130002693:ATAC-STARR-seq lymphoblastoid silent region 20326 [Gene]
  • LOC130002694:ATAC-STARR-seq lymphoblastoid silent region 20327 [Gene]
  • LOC130002696:ATAC-STARR-seq lymphoblastoid silent region 20331 [Gene]
  • LOC130002698:ATAC-STARR-seq lymphoblastoid silent region 20332 [Gene]
  • LOC130002699:ATAC-STARR-seq lymphoblastoid silent region 20333 [Gene]
  • LOC130002701:ATAC-STARR-seq lymphoblastoid silent region 20334 [Gene]
  • LOC130002704:ATAC-STARR-seq lymphoblastoid silent region 20335 [Gene]
  • LOC130002705:ATAC-STARR-seq lymphoblastoid silent region 20337 [Gene]
  • LOC130002708:ATAC-STARR-seq lymphoblastoid silent region 20339 [Gene]
  • LOC130002710:ATAC-STARR-seq lymphoblastoid silent region 20344 [Gene]
  • LOC130002712:ATAC-STARR-seq lymphoblastoid silent region 20345 [Gene]
  • LOC130002718:ATAC-STARR-seq lymphoblastoid silent region 20347 [Gene]
  • LOC130002719:ATAC-STARR-seq lymphoblastoid silent region 20348 [Gene]
  • LOC130002720:ATAC-STARR-seq lymphoblastoid silent region 20350 [Gene]
  • LOC130002722:ATAC-STARR-seq lymphoblastoid silent region 20351 [Gene]
  • LOC130002723:ATAC-STARR-seq lymphoblastoid silent region 20352 [Gene]
  • LOC130002724:ATAC-STARR-seq lymphoblastoid silent region 20353 [Gene]
  • LOC130002725:ATAC-STARR-seq lymphoblastoid silent region 20354 [Gene]
  • LOC130002728:ATAC-STARR-seq lymphoblastoid silent region 20355 [Gene]
  • LOC130002733:ATAC-STARR-seq lymphoblastoid silent region 20358 [Gene]
  • LOC130002736:ATAC-STARR-seq lymphoblastoid silent region 20359 [Gene]
  • LOC130002737:ATAC-STARR-seq lymphoblastoid silent region 20360 [Gene]
  • LOC130002741:ATAC-STARR-seq lymphoblastoid silent region 20363 [Gene]
  • LOC130002742:ATAC-STARR-seq lymphoblastoid silent region 20365 [Gene]
  • LOC130002743:ATAC-STARR-seq lymphoblastoid silent region 20366 [Gene]
  • LOC130002744:ATAC-STARR-seq lymphoblastoid silent region 20367 [Gene]
  • LOC130002745:ATAC-STARR-seq lymphoblastoid silent region 20370 [Gene]
  • LOC130002747:ATAC-STARR-seq lymphoblastoid silent region 20371 [Gene]
  • LOC130002749:ATAC-STARR-seq lymphoblastoid silent region 20372 [Gene]
  • LOC130002750:ATAC-STARR-seq lymphoblastoid silent region 20373 [Gene]
  • LOC130002751:ATAC-STARR-seq lymphoblastoid silent region 20374 [Gene]
  • LOC130002752:ATAC-STARR-seq lymphoblastoid silent region 20375 [Gene]
  • LOC130002753:ATAC-STARR-seq lymphoblastoid silent region 20376 [Gene]
  • LOC130002754:ATAC-STARR-seq lymphoblastoid silent region 20377 [Gene]
  • LOC130002756:ATAC-STARR-seq lymphoblastoid silent region 20379 [Gene]
  • LOC130002759:ATAC-STARR-seq lymphoblastoid silent region 20383 [Gene]
  • LOC130002761:ATAC-STARR-seq lymphoblastoid silent region 20384 [Gene]
  • LOC130002762:ATAC-STARR-seq lymphoblastoid silent region 20385 [Gene]
  • LOC130002765:ATAC-STARR-seq lymphoblastoid silent region 20387 [Gene]
  • LOC126860768:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:129928436-129929635 [Gene]
  • LOC126860771:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 [Gene]
  • LOC126860772:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 [Gene]
  • CIZ1:CDKN1A interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • LOC116216099:CRISPRi-validated cis-regulatory element chr9.2869 [Gene]
  • LOC116216100:CRISPRi-validated cis-regulatory element chr9.2942 [Gene]
  • LOC116216101:CRISPRi-validated cis-regulatory element chr9.3033 [Gene]
  • LOC108281127:FAM129B intron CAGE-defined low expression enhancer [Gene]
  • GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
  • GARNL3:GTPase activating Rap/RanGAP domain like 3 [Gene - HGNC]
  • LOC111556144:HNF1 motif-containing MPRA enhancer 89 [Gene]
  • IER5L-AS1:IER5L antisense RNA 1 [Gene - HGNC]
  • KYAT1-SPOUT1:KYAT1-SPOUT1 readthrough [Gene]
  • LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
  • LMX1B-DT:LMX1B divergent transcript [Gene - HGNC]
  • LOC126860769:MED14-independent group 3 enhancer GRCh37_chr9:130094714-130095913 [Gene]
  • LOC126860770:MED14-independent group 3 enhancer GRCh37_chr9:130098321-130099520 [Gene]
  • LOC126860773:MED14-independent group 3 enhancer GRCh37_chr9:131821359-131822558 [Gene]
  • LOC126860774:MED14-independent group 3 enhancer GRCh37_chr9:132096285-132097484 [Gene]
  • MIR219A2HG:MIR219A2 host gene [Gene - HGNC]
  • LOC129390114:MPRA-validated peak7335 silencer [Gene]
  • NTMT1:N-terminal Xaa-Pro-Lys N-methyltransferase 1 [Gene - OMIM - HGNC]
  • LOC132089664:Neanderthal introgressed variant-containing enhancer experimental_106628 [Gene]
  • LOC132089665:Neanderthal introgressed variant-containing enhancer experimental_106693 [Gene]
  • LOC132089666:Neanderthal introgressed variant-containing enhancer experimental_106710 [Gene]
  • LOC132089667:Neanderthal introgressed variant-containing enhancer experimental_106889 [Gene]
  • ODF2-AS1:ODF2 antisense RNA 1 [Gene - HGNC]
  • LOC126860766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:129236685-129237884 [Gene]
  • LOC126860767:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:129920824-129922023 [Gene]
  • PTGES2-AS1:PTGES2 antisense RNA 1 (head to head) [Gene - HGNC]
  • RALGPS1:Ral GEF with PH domain and SH3 binding motif 1 [Gene - OMIM - HGNC]
  • SET:SET nuclear proto-oncogene [Gene - OMIM - HGNC]
  • SH2D3C:SH2 domain containing 3C [Gene - OMIM - HGNC]
  • SH3GLB2:SH3 domain containing GRB2 like, endophilin B2 [Gene - OMIM - HGNC]
  • SLC25A25-AS1:SLC25A25 antisense RNA 1 [Gene - HGNC]
  • SPOUT1:SPOUT domain containing methyltransferase 1 [Gene - OMIM - HGNC]
  • ST6GALNAC4:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Gene - OMIM - HGNC]
  • ST6GALNAC6:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST6GALNAC4-ST6GALNAC6-AK1:ST6GALNAC4-ST6GALNAC6-AK1 readthrough [Gene]
  • SWI5:SWI5 homologous recombination repair protein [Gene - OMIM - HGNC]
  • LOC113839509:Sharpr-MPRA regulatory region 10550 [Gene]
  • LOC124310660:Sharpr-MPRA regulatory region 11907 [Gene]
  • LOC124310656:Sharpr-MPRA regulatory region 12425 [Gene]
  • LOC124310653:Sharpr-MPRA regulatory region 12606 [Gene]
  • LOC124310659:Sharpr-MPRA regulatory region 12687 [Gene]
  • LOC113839525:Sharpr-MPRA regulatory region 13939 [Gene]
  • LOC113839517:Sharpr-MPRA regulatory region 14380 [Gene]
  • LOC113839508:Sharpr-MPRA regulatory region 14561 [Gene]
  • LOC121811719:Sharpr-MPRA regulatory region 1494 [Gene]
  • LOC124310648:Sharpr-MPRA regulatory region 1510 [Gene]
  • LOC113839512:Sharpr-MPRA regulatory region 2041 [Gene]
  • LOC113839526:Sharpr-MPRA regulatory region 2152 [Gene]
  • LOC124310654:Sharpr-MPRA regulatory region 290 [Gene]
  • LOC121366026:Sharpr-MPRA regulatory region 3640 [Gene]
  • LOC124310645:Sharpr-MPRA regulatory region 3753 [Gene]
  • LOC113839510:Sharpr-MPRA regulatory region 4083 [Gene]
  • LOC124310649:Sharpr-MPRA regulatory region 4407 [Gene]
  • LOC113839515:Sharpr-MPRA regulatory region 4689 [Gene]
  • LOC124310651:Sharpr-MPRA regulatory region 4771 [Gene]
  • LOC113839514:Sharpr-MPRA regulatory region 5179 [Gene]
  • LOC121366027:Sharpr-MPRA regulatory region 532 [Gene]
  • LOC124310646:Sharpr-MPRA regulatory region 6068 [Gene]
  • LOC124310657:Sharpr-MPRA regulatory region 6206 [Gene]
  • LOC124310650:Sharpr-MPRA regulatory region 6524 [Gene]
  • LOC113839513:Sharpr-MPRA regulatory region 6856 [Gene]
  • LOC121366030:Sharpr-MPRA regulatory region 6917 [Gene]
  • LOC124310644:Sharpr-MPRA regulatory region 7128 [Gene]
  • LOC121366028:Sharpr-MPRA regulatory region 7409 [Gene]
  • LOC113839511:Sharpr-MPRA regulatory region 7866 [Gene]
  • LOC124310647:Sharpr-MPRA regulatory region 8141 [Gene]
  • LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
  • LOC121366029:Sharpr-MPRA regulatory region 8657 [Gene]
  • LOC113839527:Sharpr-MPRA regulatory region 9056 [Gene]
  • LOC124310655:Sharpr-MPRA regulatory region 9337 [Gene]
  • LOC113839524:Sharpr-MPRA regulatory region 9551 [Gene]
  • LOC124310658:Sharpr-MPRA regulatory region 9976 [Gene]
  • LOC124310652:Sharpr-MPRA regulatory region 9989 [Gene]
  • TBC1D13:TBC1 domain family member 13 [Gene - OMIM - HGNC]
  • TRUB2:TruB pseudouridine synthase family member 2 [Gene - OMIM - HGNC]
  • LOC110120962:VISTA enhancer hs1015 [Gene]
  • LOC110120603:VISTA enhancer hs186 [Gene]
  • LOC114827831:VISTA enhancer hs2342 [Gene]
  • LOC110120820:VISTA enhancer hs987 [Gene]
  • ZDHHC12-DT:ZDHHC12 divergent transcript [Gene - HGNC]
  • AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
  • ANGPTL2:angiopoietin like 2 [Gene - OMIM - HGNC]
  • ASB6:ankyrin repeat and SOCS box containing 6 [Gene - OMIM - HGNC]
  • BBLN:bublin coiled coil protein [Gene - HGNC]
  • CRAT:carnitine O-acetyltransferase [Gene - OMIM - HGNC]
  • CERCAM:cerebral endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • C9orf50:chromosome 9 open reading frame 50 [Gene - HGNC]
  • CFAP157:cilia and flagella associated protein 157 [Gene - HGNC]
  • COQ4:coenzyme Q4 [Gene - OMIM - HGNC]
  • LOC106783495:conserved acetylation island sequence 15 enhancer [Gene]
  • CDK9:cyclin dependent kinase 9 [Gene - OMIM - HGNC]
  • DOLK:dolichol kinase [Gene - OMIM - HGNC]
  • DPM2:dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Gene - OMIM - HGNC]
  • DOLPP1:dolichyldiphosphatase 1 [Gene - OMIM - HGNC]
  • DNM1:dynamin 1 [Gene - OMIM - HGNC]
  • DYNC2I2:dynein 2 intermediate chain 2 [Gene - OMIM - HGNC]
  • ENG:endoglin [Gene - OMIM - HGNC]
  • ENDOG:endonuclease G [Gene - OMIM - HGNC]
  • EEIG1:estrogen-induced osteoclastogenesis regulator 1 [Gene - OMIM - HGNC]
  • FPGS:folylpolyglutamate synthase [Gene - OMIM - HGNC]
  • GOLGA2:golgin A2 [Gene - OMIM - HGNC]
  • IER5L:immediate early response 5 like [Gene - HGNC]
  • KYAT1:kynurenine aminotransferase 1 [Gene - OMIM - HGNC]
  • LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]
  • LRRC8A:leucine rich repeat containing 8 VRAC subunit A [Gene - OMIM - HGNC]
  • LCN2:lipocalin 2 [Gene - OMIM - HGNC]
  • LINC01503:long intergenic non-protein coding RNA 1503 [Gene - HGNC]
  • LINC02913:long intergenic non-protein coding RNA 2913 [Gene - HGNC]
  • LINC02975:long intergenic non-protein coding RNA 2975 [Gene - HGNC]
  • LINC00963:long intergenic non-protein coding RNA 963 [Gene - HGNC]
  • MIR199B:microRNA 199b [Gene - OMIM - HGNC]
  • MIR219A2:microRNA 219a-2 [Gene - HGNC]
  • MIR219B:microRNA 219b [Gene - HGNC]
  • MIR2861:microRNA 2861 [Gene - OMIM - HGNC]
  • MIR3154:microRNA 3154 [Gene - HGNC]
  • MIR3911:microRNA 3911 [Gene - HGNC]
  • MIR3960:microRNA 3960 [Gene - HGNC]
  • MIR4672:microRNA 4672 [Gene - HGNC]
  • MIGA2:mitoguardin 2 [Gene - OMIM - HGNC]
  • MVB12B:multivesicular body subunit 12B [Gene - HGNC]
  • NIBAN2:niban apoptosis regulator 2 [Gene - OMIM - HGNC]
  • NRON:non-coding repressor of NFAT [Gene - OMIM - HGNC]
  • NAIF1:nuclear apoptosis inducing factor 1 [Gene - OMIM - HGNC]
  • NUP188:nucleoporin 188 [Gene - OMIM - HGNC]
  • ODF2:outer dense fiber of sperm tails 2 [Gene - OMIM - HGNC]
  • PRRX2:paired related homeobox 2 [Gene - OMIM - HGNC]
  • PTRH1:peptidyl-tRNA hydrolase 1 homolog [Gene - HGNC]
  • PIP5KL1:phosphatidylinositol-4-phosphate 5-kinase like 1 [Gene - OMIM - HGNC]
  • PHYHD1:phytanoyl-CoA dioxygenase domain containing 1 [Gene - OMIM - HGNC]
  • PTGES2:prostaglandin E synthase 2 [Gene - OMIM - HGNC]
  • PKN3:protein kinase N3 [Gene - OMIM - HGNC]
  • PTPA:protein phosphatase 2 phosphatase activator [Gene - OMIM - HGNC]
  • RPL12:ribosomal protein L12 [Gene - OMIM - HGNC]
  • SNORA65:small nucleolar RNA, H/ACA box 65 [Gene - HGNC]
  • SLC2A8:solute carrier family 2 member 8 [Gene - OMIM - HGNC]
  • SLC25A25:solute carrier family 25 member 25 [Gene - OMIM - HGNC]
  • SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]
  • SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
  • STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
  • TRR-TCT3-1:tRNA-Arg (anticodon TCT) 3-1 [Gene - HGNC]
  • TTC16:tetratricopeptide repeat domain 16 [Gene - HGNC]
  • TOR2A:torsin family 2 member A [Gene - OMIM - HGNC]
  • URM1:ubiquitin related modifier 1 [Gene - OMIM - HGNC]
  • LOC101929116:uncharacterized LOC101929116 [Gene]
  • LOC101929270:uncharacterized LOC101929270 [Gene]
  • LOC102723566:uncharacterized LOC102723566 [Gene]
  • LOC105376291:uncharacterized LOC105376291 [Gene]
  • LOC105376292:uncharacterized LOC105376292 [Gene]
  • ZDHHC12:zinc finger DHHC-type palmitoyltransferase 12 [Gene - HGNC]
  • ZBTB34:zinc finger and BTB domain containing 34 [Gene - OMIM - HGNC]
  • ZBTB43:zinc finger and BTB domain containing 43 [Gene - OMIM - HGNC]
  • ZNF79:zinc finger protein 79 [Gene - OMIM - HGNC]
  • ZER1:zyg-11 related cell cycle regulator [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q33.3-34.11
Genomic location:
Preferred name:
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1
HGVS:
  • NC_000009.12:g.(?_125993583)_(129682375_?)del
  • NC_000009.10:g.(?_127795683)_(131484475_?)del
  • NC_000009.11:g.(?_128755862)_(132444654_?)del
Links:
dbVar: nssv578344; dbVar: nssv578345; dbVar: nsv531637
Observations:
2

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
SCV000080277GeneDx
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 providedyes2not 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, SCV000080277.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023