U.S. flag

An official website of the United States government

GRCh38/hg38 9q34.11(chr9:127874581-130421811)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:
RCV000052934.7

Allele description [Variation Report for GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1]

GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1

Genes:
  • 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]
  • LOC130002766:ATAC-STARR-seq lymphoblastoid active region 29119 [Gene]
  • LOC130002767:ATAC-STARR-seq lymphoblastoid active region 29120 [Gene]
  • LOC130002770:ATAC-STARR-seq lymphoblastoid active region 29121 [Gene]
  • LOC130002772:ATAC-STARR-seq lymphoblastoid active region 29122 [Gene]
  • LOC130002774:ATAC-STARR-seq lymphoblastoid active region 29123 [Gene]
  • LOC130002775:ATAC-STARR-seq lymphoblastoid active region 29125 [Gene]
  • LOC130002777:ATAC-STARR-seq lymphoblastoid active region 29126 [Gene]
  • LOC130002778:ATAC-STARR-seq lymphoblastoid active region 29128 [Gene]
  • LOC130002779:ATAC-STARR-seq lymphoblastoid active region 29129 [Gene]
  • LOC130002780:ATAC-STARR-seq lymphoblastoid active region 29130 [Gene]
  • LOC130002781:ATAC-STARR-seq lymphoblastoid active region 29131 [Gene]
  • LOC130002782:ATAC-STARR-seq lymphoblastoid active region 29132 [Gene]
  • LOC130002784:ATAC-STARR-seq lymphoblastoid active region 29133 [Gene]
  • LOC130002785:ATAC-STARR-seq lymphoblastoid active region 29134 [Gene]
  • LOC130002786:ATAC-STARR-seq lymphoblastoid active region 29135 [Gene]
  • LOC130002787:ATAC-STARR-seq lymphoblastoid active region 29136 [Gene]
  • LOC130002788:ATAC-STARR-seq lymphoblastoid active region 29137 [Gene]
  • LOC130002789:ATAC-STARR-seq lymphoblastoid active region 29138 [Gene]
  • LOC130002790:ATAC-STARR-seq lymphoblastoid active region 29139 [Gene]
  • LOC130002791:ATAC-STARR-seq lymphoblastoid active region 29140 [Gene]
  • LOC130002792:ATAC-STARR-seq lymphoblastoid active region 29141 [Gene]
  • LOC130002793:ATAC-STARR-seq lymphoblastoid active region 29142 [Gene]
  • LOC130002794:ATAC-STARR-seq lymphoblastoid active region 29143 [Gene]
  • LOC130002795:ATAC-STARR-seq lymphoblastoid active region 29144 [Gene]
  • LOC130002796:ATAC-STARR-seq lymphoblastoid active region 29145 [Gene]
  • LOC130002797:ATAC-STARR-seq lymphoblastoid active region 29146 [Gene]
  • LOC130002798:ATAC-STARR-seq lymphoblastoid active region 29148 [Gene]
  • LOC130002804:ATAC-STARR-seq lymphoblastoid active region 29149 [Gene]
  • LOC130002806:ATAC-STARR-seq lymphoblastoid active region 29150 [Gene]
  • LOC130002807:ATAC-STARR-seq lymphoblastoid active region 29151 [Gene]
  • LOC130002808:ATAC-STARR-seq lymphoblastoid active region 29152 [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]
  • LOC130002768:ATAC-STARR-seq lymphoblastoid silent region 20388 [Gene]
  • LOC130002769:ATAC-STARR-seq lymphoblastoid silent region 20389 [Gene]
  • LOC130002771:ATAC-STARR-seq lymphoblastoid silent region 20390 [Gene]
  • LOC130002773:ATAC-STARR-seq lymphoblastoid silent region 20391 [Gene]
  • LOC130002776:ATAC-STARR-seq lymphoblastoid silent region 20393 [Gene]
  • LOC130002783:ATAC-STARR-seq lymphoblastoid silent region 20394 [Gene]
  • LOC130002799:ATAC-STARR-seq lymphoblastoid silent region 20395 [Gene]
  • LOC130002800:ATAC-STARR-seq lymphoblastoid silent region 20396 [Gene]
  • LOC130002801:ATAC-STARR-seq lymphoblastoid silent region 20397 [Gene]
  • LOC130002802:ATAC-STARR-seq lymphoblastoid silent region 20398 [Gene]
  • LOC130002803:ATAC-STARR-seq lymphoblastoid silent region 20399 [Gene]
  • LOC130002805:ATAC-STARR-seq lymphoblastoid silent region 20400 [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]
  • LOC116216100:CRISPRi-validated cis-regulatory element chr9.2942 [Gene]
  • LOC116216101:CRISPRi-validated cis-regulatory element chr9.3033 [Gene]
  • GPR107:G protein-coupled receptor 107 [Gene - OMIM - HGNC]
  • GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
  • GPRACR:GPR107 adjacent cis regulating lncRNA [Gene - HGNC]
  • LOC111556144:HNF1 motif-containing MPRA enhancer 89 [Gene]
  • IER5L-AS1:IER5L antisense RNA 1 [Gene - HGNC]
  • KYAT1-SPOUT1:KYAT1-SPOUT1 readthrough [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]
  • LOC132089667:Neanderthal introgressed variant-containing enhancer experimental_106889 [Gene]
  • ODF2-AS1:ODF2 antisense RNA 1 [Gene - HGNC]
  • PRRX2-AS1:PRRX2 antisense RNA 1 [Gene - HGNC]
  • PTGES2-AS1:PTGES2 antisense RNA 1 (head to head) [Gene - HGNC]
  • SET:SET nuclear proto-oncogene [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]
  • LOC124310660:Sharpr-MPRA regulatory region 11907 [Gene]
  • LOC113839529:Sharpr-MPRA regulatory region 12063 [Gene]
  • LOC124310663:Sharpr-MPRA regulatory region 12255 [Gene]
  • LOC124310656:Sharpr-MPRA regulatory region 12425 [Gene]
  • LOC124310653:Sharpr-MPRA regulatory region 12606 [Gene]
  • LOC124310659:Sharpr-MPRA regulatory region 12687 [Gene]
  • LOC124310665:Sharpr-MPRA regulatory region 1290 [Gene]
  • LOC124310661:Sharpr-MPRA regulatory region 13743 [Gene]
  • LOC113839525:Sharpr-MPRA regulatory region 13939 [Gene]
  • LOC113839517:Sharpr-MPRA regulatory region 14380 [Gene]
  • LOC113839528:Sharpr-MPRA regulatory region 14524 [Gene]
  • LOC113839526:Sharpr-MPRA regulatory region 2152 [Gene]
  • LOC124310654:Sharpr-MPRA regulatory region 290 [Gene]
  • LOC124310664:Sharpr-MPRA regulatory region 3297 [Gene]
  • LOC114022700:Sharpr-MPRA regulatory region 3625 [Gene]
  • LOC113839530:Sharpr-MPRA regulatory region 4503 [Gene]
  • LOC113839515:Sharpr-MPRA regulatory region 4689 [Gene]
  • LOC124310651:Sharpr-MPRA regulatory region 4771 [Gene]
  • LOC113839514:Sharpr-MPRA regulatory region 5179 [Gene]
  • LOC124310667:Sharpr-MPRA regulatory region 5428 [Gene]
  • LOC124310662:Sharpr-MPRA regulatory region 5710 [Gene]
  • LOC124310657:Sharpr-MPRA regulatory region 6206 [Gene]
  • LOC113839513:Sharpr-MPRA regulatory region 6856 [Gene]
  • LOC121366030:Sharpr-MPRA regulatory region 6917 [Gene]
  • LOC121366028:Sharpr-MPRA regulatory region 7409 [Gene]
  • LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
  • LOC121366029:Sharpr-MPRA regulatory region 8657 [Gene]
  • LOC113839527:Sharpr-MPRA regulatory region 9056 [Gene]
  • LOC124310666:Sharpr-MPRA regulatory region 9235 [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]
  • ZDHHC12-DT:ZDHHC12 divergent transcript [Gene - HGNC]
  • AK1:adenylate kinase 1 [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]
  • C9orf78:chromosome 9 open reading frame 78 [Gene - OMIM - HGNC]
  • COQ4:coenzyme Q4 [Gene - OMIM - HGNC]
  • LOC106783495:conserved acetylation island sequence 15 enhancer [Gene]
  • 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]
  • ENDOG:endonuclease G [Gene - OMIM - HGNC]
  • EEIG1:estrogen-induced osteoclastogenesis regulator 1 [Gene - OMIM - HGNC]
  • FNBP1:formin binding protein 1 [Gene - OMIM - HGNC]
  • GOLGA2:golgin A2 [Gene - OMIM - HGNC]
  • HMCN2:hemicentin 2 [Gene - HGNC]
  • IER5L:immediate early response 5 like [Gene - HGNC]
  • KYAT1:kynurenine aminotransferase 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]
  • MIR12126:microRNA 12126 [Gene - HGNC]
  • MIR199B:microRNA 199b [Gene - OMIM - HGNC]
  • MIR219A2:microRNA 219a-2 [Gene - HGNC]
  • MIR219B:microRNA 219b [Gene - HGNC]
  • MIR3154:microRNA 3154 [Gene - HGNC]
  • MIR6855:microRNA 6855 [Gene - HGNC]
  • MIGA2:mitoguardin 2 [Gene - OMIM - HGNC]
  • NCS1:neuronal calcium sensor 1 [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]
  • 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]
  • PTGES:prostaglandin E synthase [Gene - OMIM - HGNC]
  • PKN3:protein kinase N3 [Gene - OMIM - HGNC]
  • PTPA:protein phosphatase 2 phosphatase activator [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]
  • TRR-TCT3-1:tRNA-Arg (anticodon TCT) 3-1 [Gene - HGNC]
  • TOR1A:torsin family 1 member A [Gene - OMIM - HGNC]
  • TOR1B:torsin family 1 member B [Gene - OMIM - HGNC]
  • URM1:ubiquitin related modifier 1 [Gene - OMIM - HGNC]
  • USP20:ubiquitin specific peptidase 20 [Gene - OMIM - HGNC]
  • LOC101929270:uncharacterized LOC101929270 [Gene]
  • LOC105376291:uncharacterized LOC105376291 [Gene]
  • LOC105376292:uncharacterized LOC105376292 [Gene]
  • ZDHHC12:zinc finger DHHC-type palmitoyltransferase 12 [Gene - HGNC]
  • ZER1:zyg-11 related cell cycle regulator [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1
HGVS:
  • NC_000009.12:g.(?_127874581)_(130421811_?)del
  • NC_000009.10:g.(?_129676681)_(132287019_?)del
  • NC_000009.11:g.(?_130636860)_(133297198_?)del
Links:
dbVar: nssv578347; dbVar: nsv531647
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080288GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080288.5

#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