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GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 23, 2013
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:
RCV000133650.5

Allele description [Variation Report for GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4]

GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4

Genes:
  • PFKFB4:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 [Gene - OMIM - HGNC]
  • ALS2CL:ALS2 C-terminal like [Gene - OMIM - HGNC]
  • ARIH2OS:ARIH2 opposite strand lncRNA [Gene - HGNC]
  • LOC129936634:ATAC-STARR-seq lymphoblastoid active region 19787 [Gene]
  • LOC129936636:ATAC-STARR-seq lymphoblastoid active region 19790 [Gene]
  • LOC129936637:ATAC-STARR-seq lymphoblastoid active region 19791 [Gene]
  • LOC129936638:ATAC-STARR-seq lymphoblastoid active region 19792 [Gene]
  • LOC129936639:ATAC-STARR-seq lymphoblastoid active region 19794 [Gene]
  • LOC129936640:ATAC-STARR-seq lymphoblastoid active region 19795 [Gene]
  • LOC129936641:ATAC-STARR-seq lymphoblastoid active region 19796 [Gene]
  • LOC129936644:ATAC-STARR-seq lymphoblastoid active region 19797 [Gene]
  • LOC129936646:ATAC-STARR-seq lymphoblastoid active region 19798 [Gene]
  • LOC129936649:ATAC-STARR-seq lymphoblastoid active region 19799 [Gene]
  • LOC129936653:ATAC-STARR-seq lymphoblastoid active region 19800 [Gene]
  • LOC129936654:ATAC-STARR-seq lymphoblastoid active region 19802 [Gene]
  • LOC129936655:ATAC-STARR-seq lymphoblastoid active region 19803 [Gene]
  • LOC129936656:ATAC-STARR-seq lymphoblastoid active region 19804 [Gene]
  • LOC129936659:ATAC-STARR-seq lymphoblastoid active region 19806 [Gene]
  • LOC129936661:ATAC-STARR-seq lymphoblastoid active region 19807 [Gene]
  • LOC129936667:ATAC-STARR-seq lymphoblastoid active region 19809 [Gene]
  • LOC129936668:ATAC-STARR-seq lymphoblastoid active region 19810 [Gene]
  • LOC129936669:ATAC-STARR-seq lymphoblastoid active region 19812 [Gene]
  • LOC129936671:ATAC-STARR-seq lymphoblastoid active region 19815 [Gene]
  • LOC129936673:ATAC-STARR-seq lymphoblastoid active region 19816 [Gene]
  • LOC129936674:ATAC-STARR-seq lymphoblastoid active region 19817 [Gene]
  • LOC129936675:ATAC-STARR-seq lymphoblastoid active region 19818 [Gene]
  • LOC129936679:ATAC-STARR-seq lymphoblastoid active region 19819 [Gene]
  • LOC129936684:ATAC-STARR-seq lymphoblastoid active region 19820 [Gene]
  • LOC129936689:ATAC-STARR-seq lymphoblastoid active region 19821 [Gene]
  • LOC129936690:ATAC-STARR-seq lymphoblastoid active region 19822 [Gene]
  • LOC129936691:ATAC-STARR-seq lymphoblastoid active region 19823 [Gene]
  • LOC129936692:ATAC-STARR-seq lymphoblastoid active region 19824 [Gene]
  • LOC129936693:ATAC-STARR-seq lymphoblastoid active region 19825 [Gene]
  • LOC129936695:ATAC-STARR-seq lymphoblastoid active region 19826 [Gene]
  • LOC129936701:ATAC-STARR-seq lymphoblastoid active region 19828 [Gene]
  • LOC129936704:ATAC-STARR-seq lymphoblastoid active region 19829 [Gene]
  • LOC129936705:ATAC-STARR-seq lymphoblastoid active region 19831 [Gene]
  • LOC129936706:ATAC-STARR-seq lymphoblastoid active region 19833 [Gene]
  • LOC129936707:ATAC-STARR-seq lymphoblastoid active region 19834 [Gene]
  • LOC129936710:ATAC-STARR-seq lymphoblastoid active region 19835 [Gene]
  • LOC129936711:ATAC-STARR-seq lymphoblastoid active region 19836 [Gene]
  • LOC129936712:ATAC-STARR-seq lymphoblastoid active region 19837 [Gene]
  • LOC129936714:ATAC-STARR-seq lymphoblastoid active region 19838 [Gene]
  • LOC129936717:ATAC-STARR-seq lymphoblastoid active region 19841 [Gene]
  • LOC129936718:ATAC-STARR-seq lymphoblastoid active region 19842 [Gene]
  • LOC129936721:ATAC-STARR-seq lymphoblastoid active region 19844 [Gene]
  • LOC129936723:ATAC-STARR-seq lymphoblastoid active region 19846 [Gene]
  • LOC129936724:ATAC-STARR-seq lymphoblastoid active region 19847 [Gene]
  • LOC129936728:ATAC-STARR-seq lymphoblastoid active region 19849 [Gene]
  • LOC129936734:ATAC-STARR-seq lymphoblastoid active region 19851 [Gene]
  • LOC129936735:ATAC-STARR-seq lymphoblastoid active region 19852 [Gene]
  • LOC129936736:ATAC-STARR-seq lymphoblastoid active region 19853 [Gene]
  • LOC129936737:ATAC-STARR-seq lymphoblastoid active region 19854 [Gene]
  • LOC129936738:ATAC-STARR-seq lymphoblastoid active region 19855 [Gene]
  • LOC129936741:ATAC-STARR-seq lymphoblastoid active region 19856 [Gene]
  • LOC129936742:ATAC-STARR-seq lymphoblastoid active region 19857 [Gene]
  • LOC129936745:ATAC-STARR-seq lymphoblastoid active region 19858 [Gene]
  • LOC129936746:ATAC-STARR-seq lymphoblastoid active region 19859 [Gene]
  • LOC129936749:ATAC-STARR-seq lymphoblastoid active region 19860 [Gene]
  • LOC129936751:ATAC-STARR-seq lymphoblastoid active region 19863 [Gene]
  • LOC129936752:ATAC-STARR-seq lymphoblastoid active region 19864 [Gene]
  • LOC129936753:ATAC-STARR-seq lymphoblastoid active region 19865 [Gene]
  • LOC129936754:ATAC-STARR-seq lymphoblastoid active region 19868 [Gene]
  • LOC129936755:ATAC-STARR-seq lymphoblastoid active region 19869 [Gene]
  • LOC129936756:ATAC-STARR-seq lymphoblastoid active region 19870 [Gene]
  • LOC129936757:ATAC-STARR-seq lymphoblastoid active region 19871 [Gene]
  • LOC129936763:ATAC-STARR-seq lymphoblastoid active region 19873 [Gene]
  • LOC129936764:ATAC-STARR-seq lymphoblastoid active region 19874 [Gene]
  • LOC129936766:ATAC-STARR-seq lymphoblastoid active region 19875 [Gene]
  • LOC129936769:ATAC-STARR-seq lymphoblastoid active region 19876 [Gene]
  • LOC129936770:ATAC-STARR-seq lymphoblastoid active region 19880 [Gene]
  • LOC129936772:ATAC-STARR-seq lymphoblastoid active region 19881 [Gene]
  • LOC129936773:ATAC-STARR-seq lymphoblastoid active region 19882 [Gene]
  • LOC129936774:ATAC-STARR-seq lymphoblastoid active region 19883 [Gene]
  • LOC129936782:ATAC-STARR-seq lymphoblastoid active region 19890 [Gene]
  • LOC129936783:ATAC-STARR-seq lymphoblastoid active region 19891 [Gene]
  • LOC129936785:ATAC-STARR-seq lymphoblastoid active region 19892 [Gene]
  • LOC129936787:ATAC-STARR-seq lymphoblastoid active region 19897 [Gene]
  • LOC129936789:ATAC-STARR-seq lymphoblastoid active region 19898 [Gene]
  • LOC129936790:ATAC-STARR-seq lymphoblastoid active region 19899 [Gene]
  • LOC129936792:ATAC-STARR-seq lymphoblastoid active region 19900 [Gene]
  • LOC129936794:ATAC-STARR-seq lymphoblastoid active region 19901 [Gene]
  • LOC129936797:ATAC-STARR-seq lymphoblastoid active region 19903 [Gene]
  • LOC129936798:ATAC-STARR-seq lymphoblastoid active region 19905 [Gene]
  • LOC129936800:ATAC-STARR-seq lymphoblastoid active region 19907 [Gene]
  • LOC129936801:ATAC-STARR-seq lymphoblastoid active region 19908 [Gene]
  • LOC129936802:ATAC-STARR-seq lymphoblastoid active region 19909 [Gene]
  • LOC129936803:ATAC-STARR-seq lymphoblastoid active region 19910 [Gene]
  • LOC129936804:ATAC-STARR-seq lymphoblastoid active region 19911 [Gene]
  • LOC129936807:ATAC-STARR-seq lymphoblastoid active region 19912 [Gene]
  • LOC129936808:ATAC-STARR-seq lymphoblastoid active region 19913 [Gene]
  • LOC129936635:ATAC-STARR-seq lymphoblastoid silent region 14287 [Gene]
  • LOC129936642:ATAC-STARR-seq lymphoblastoid silent region 14288 [Gene]
  • LOC129936643:ATAC-STARR-seq lymphoblastoid silent region 14289 [Gene]
  • LOC129936645:ATAC-STARR-seq lymphoblastoid silent region 14292 [Gene]
  • LOC129936647:ATAC-STARR-seq lymphoblastoid silent region 14293 [Gene]
  • LOC129936648:ATAC-STARR-seq lymphoblastoid silent region 14294 [Gene]
  • LOC129936650:ATAC-STARR-seq lymphoblastoid silent region 14295 [Gene]
  • LOC129936651:ATAC-STARR-seq lymphoblastoid silent region 14296 [Gene]
  • LOC129936652:ATAC-STARR-seq lymphoblastoid silent region 14297 [Gene]
  • LOC129936657:ATAC-STARR-seq lymphoblastoid silent region 14298 [Gene]
  • LOC129936658:ATAC-STARR-seq lymphoblastoid silent region 14299 [Gene]
  • LOC129936660:ATAC-STARR-seq lymphoblastoid silent region 14301 [Gene]
  • LOC129936662:ATAC-STARR-seq lymphoblastoid silent region 14303 [Gene]
  • LOC129936663:ATAC-STARR-seq lymphoblastoid silent region 14304 [Gene]
  • LOC129936664:ATAC-STARR-seq lymphoblastoid silent region 14305 [Gene]
  • LOC129936665:ATAC-STARR-seq lymphoblastoid silent region 14306 [Gene]
  • LOC129936666:ATAC-STARR-seq lymphoblastoid silent region 14307 [Gene]
  • LOC129936670:ATAC-STARR-seq lymphoblastoid silent region 14308 [Gene]
  • LOC129936672:ATAC-STARR-seq lymphoblastoid silent region 14309 [Gene]
  • LOC129936676:ATAC-STARR-seq lymphoblastoid silent region 14310 [Gene]
  • LOC129936677:ATAC-STARR-seq lymphoblastoid silent region 14311 [Gene]
  • LOC129936678:ATAC-STARR-seq lymphoblastoid silent region 14312 [Gene]
  • LOC129936680:ATAC-STARR-seq lymphoblastoid silent region 14313 [Gene]
  • LOC129936681:ATAC-STARR-seq lymphoblastoid silent region 14315 [Gene]
  • LOC129936682:ATAC-STARR-seq lymphoblastoid silent region 14316 [Gene]
  • LOC129936683:ATAC-STARR-seq lymphoblastoid silent region 14318 [Gene]
  • LOC129936685:ATAC-STARR-seq lymphoblastoid silent region 14319 [Gene]
  • LOC129936686:ATAC-STARR-seq lymphoblastoid silent region 14320 [Gene]
  • LOC129936687:ATAC-STARR-seq lymphoblastoid silent region 14321 [Gene]
  • LOC129936688:ATAC-STARR-seq lymphoblastoid silent region 14322 [Gene]
  • LOC129936694:ATAC-STARR-seq lymphoblastoid silent region 14324 [Gene]
  • LOC129936696:ATAC-STARR-seq lymphoblastoid silent region 14325 [Gene]
  • LOC129936697:ATAC-STARR-seq lymphoblastoid silent region 14326 [Gene]
  • LOC129936698:ATAC-STARR-seq lymphoblastoid silent region 14327 [Gene]
  • LOC129936699:ATAC-STARR-seq lymphoblastoid silent region 14328 [Gene]
  • LOC129936700:ATAC-STARR-seq lymphoblastoid silent region 14329 [Gene]
  • LOC129936702:ATAC-STARR-seq lymphoblastoid silent region 14330 [Gene]
  • LOC129936703:ATAC-STARR-seq lymphoblastoid silent region 14331 [Gene]
  • LOC129936708:ATAC-STARR-seq lymphoblastoid silent region 14332 [Gene]
  • LOC129936709:ATAC-STARR-seq lymphoblastoid silent region 14333 [Gene]
  • LOC129936713:ATAC-STARR-seq lymphoblastoid silent region 14334 [Gene]
  • LOC129936715:ATAC-STARR-seq lymphoblastoid silent region 14335 [Gene]
  • LOC129936716:ATAC-STARR-seq lymphoblastoid silent region 14336 [Gene]
  • LOC129936719:ATAC-STARR-seq lymphoblastoid silent region 14339 [Gene]
  • LOC129936720:ATAC-STARR-seq lymphoblastoid silent region 14340 [Gene]
  • LOC129936722:ATAC-STARR-seq lymphoblastoid silent region 14341 [Gene]
  • LOC129936725:ATAC-STARR-seq lymphoblastoid silent region 14344 [Gene]
  • LOC129936726:ATAC-STARR-seq lymphoblastoid silent region 14345 [Gene]
  • LOC129936727:ATAC-STARR-seq lymphoblastoid silent region 14346 [Gene]
  • LOC129936729:ATAC-STARR-seq lymphoblastoid silent region 14349 [Gene]
  • LOC129936730:ATAC-STARR-seq lymphoblastoid silent region 14350 [Gene]
  • LOC129936731:ATAC-STARR-seq lymphoblastoid silent region 14351 [Gene]
  • LOC129936732:ATAC-STARR-seq lymphoblastoid silent region 14352 [Gene]
  • LOC129936733:ATAC-STARR-seq lymphoblastoid silent region 14353 [Gene]
  • LOC129936739:ATAC-STARR-seq lymphoblastoid silent region 14355 [Gene]
  • LOC129936740:ATAC-STARR-seq lymphoblastoid silent region 14356 [Gene]
  • LOC129936743:ATAC-STARR-seq lymphoblastoid silent region 14357 [Gene]
  • LOC129936744:ATAC-STARR-seq lymphoblastoid silent region 14358 [Gene]
  • LOC129936747:ATAC-STARR-seq lymphoblastoid silent region 14359 [Gene]
  • LOC129936748:ATAC-STARR-seq lymphoblastoid silent region 14360 [Gene]
  • LOC129936750:ATAC-STARR-seq lymphoblastoid silent region 14361 [Gene]
  • LOC129936758:ATAC-STARR-seq lymphoblastoid silent region 14366 [Gene]
  • LOC129936759:ATAC-STARR-seq lymphoblastoid silent region 14367 [Gene]
  • LOC129936760:ATAC-STARR-seq lymphoblastoid silent region 14368 [Gene]
  • LOC129936761:ATAC-STARR-seq lymphoblastoid silent region 14369 [Gene]
  • LOC129936762:ATAC-STARR-seq lymphoblastoid silent region 14370 [Gene]
  • LOC129936765:ATAC-STARR-seq lymphoblastoid silent region 14372 [Gene]
  • LOC129936767:ATAC-STARR-seq lymphoblastoid silent region 14374 [Gene]
  • LOC129936768:ATAC-STARR-seq lymphoblastoid silent region 14375 [Gene]
  • LOC129936771:ATAC-STARR-seq lymphoblastoid silent region 14376 [Gene]
  • LOC129936775:ATAC-STARR-seq lymphoblastoid silent region 14377 [Gene]
  • LOC129936776:ATAC-STARR-seq lymphoblastoid silent region 14379 [Gene]
  • LOC129936777:ATAC-STARR-seq lymphoblastoid silent region 14380 [Gene]
  • LOC129936778:ATAC-STARR-seq lymphoblastoid silent region 14381 [Gene]
  • LOC129936779:ATAC-STARR-seq lymphoblastoid silent region 14382 [Gene]
  • LOC129936780:ATAC-STARR-seq lymphoblastoid silent region 14384 [Gene]
  • LOC129936781:ATAC-STARR-seq lymphoblastoid silent region 14385 [Gene]
  • LOC129936784:ATAC-STARR-seq lymphoblastoid silent region 14387 [Gene]
  • LOC129936786:ATAC-STARR-seq lymphoblastoid silent region 14388 [Gene]
  • LOC129936788:ATAC-STARR-seq lymphoblastoid silent region 14390 [Gene]
  • LOC129936791:ATAC-STARR-seq lymphoblastoid silent region 14391 [Gene]
  • LOC129936793:ATAC-STARR-seq lymphoblastoid silent region 14392 [Gene]
  • LOC129936795:ATAC-STARR-seq lymphoblastoid silent region 14393 [Gene]
  • LOC129936796:ATAC-STARR-seq lymphoblastoid silent region 14394 [Gene]
  • LOC129936799:ATAC-STARR-seq lymphoblastoid silent region 14398 [Gene]
  • LOC129936805:ATAC-STARR-seq lymphoblastoid silent region 14399 [Gene]
  • LOC129936806:ATAC-STARR-seq lymphoblastoid silent region 14400 [Gene]
  • LOC129936809:ATAC-STARR-seq lymphoblastoid silent region 14404 [Gene]
  • LOC129936810:ATAC-STARR-seq lymphoblastoid silent region 14405 [Gene]
  • LOC129936811:ATAC-STARR-seq lymphoblastoid silent region 14406 [Gene]
  • ATRIP:ATR interacting protein [Gene - OMIM - HGNC]
  • ATRIP-TREX1:ATRIP-TREX1 readthrough [Gene]
  • LOC126806672:BRD4-independent group 4 enhancer GRCh37_chr3:45979037-45980236 [Gene]
  • LOC126806673:BRD4-independent group 4 enhancer GRCh37_chr3:46561999-46563198 [Gene]
  • BSN-DT:BSN divergent transcript [Gene - HGNC]
  • CCR1:C-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • CCR2:C-C motif chemokine receptor 2 [Gene - OMIM - HGNC]
  • CCR3:C-C motif chemokine receptor 3 [Gene - OMIM - HGNC]
  • CCR5:C-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
  • CCR9:C-C motif chemokine receptor 9 [Gene - OMIM - HGNC]
  • CCRL2:C-C motif chemokine receptor like 2 [Gene - OMIM - HGNC]
  • CXCR6:C-X-C motif chemokine receptor 6 [Gene - OMIM - HGNC]
  • CCR5AS:CCR5 antisense RNA [Gene - HGNC]
  • LOC119086083:CCR9 promoter region [Gene]
  • LOC126806674:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:47323613-47324812 [Gene]
  • LOC115995510:CRISPRi-validated cis-regulatory element chr3.2093 [Gene]
  • LOC127898564:CYB561D2-LOC101928965 [Gene]
  • CAMKV:CaM kinase like vesicle associated [Gene - OMIM - HGNC]
  • DALRD3:DALR anticodon binding domain containing 3 [Gene - OMIM - HGNC]
  • DHX30:DExH-box helicase 30 [Gene - OMIM - HGNC]
  • FBXW12:F-box and WD repeat domain containing 12 [Gene - OMIM - HGNC]
  • FYCO1:FYVE and coiled-coil domain autophagy adaptor 1 [Gene - OMIM - HGNC]
  • GNAI2:G protein subunit alpha i2 [Gene - OMIM - HGNC]
  • GNAT1:G protein subunit alpha transducin 1 [Gene - OMIM - HGNC]
  • LOC111591507:GATA motif-containing MPRA enhancer 295 [Gene]
  • GMPPB:GDP-mannose pyrophosphorylase B [Gene - OMIM - HGNC]
  • LOC121009671:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:50301785-50302358 and GRCh37_chr3:50302359-50302934 [Gene]
  • HEMK1:HemK methyltransferase family member 1 [Gene - OMIM - HGNC]
  • KIF9-AS1:KIF9 antisense RNA 1 [Gene - HGNC]
  • LRRC2-AS1:LRRC2 antisense RNA 1 [Gene - HGNC]
  • MAPKAPK3:MAPK activated protein kinase 3 [Gene - OMIM - HGNC]
  • LOC126806671:MED14-independent group 3 enhancer GRCh37_chr3:45956761-45957960 [Gene]
  • LOC126806675:MED14-independent group 3 enhancer GRCh37_chr3:47403837-47405036 [Gene]
  • LOC126806676:MED14-independent group 3 enhancer GRCh37_chr3:48473797-48474996 [Gene]
  • MON1A:MON1 homolog A, secretory trafficking associated [Gene - OMIM - HGNC]
  • LOC129389065:MPRA-validated peak4632 silencer [Gene]
  • LOC129389066:MPRA-validated peak4635 silencer [Gene]
  • LOC129389067:MPRA-validated peak4636 silencer [Gene]
  • LOC129389068:MPRA-validated peak4637 silencer [Gene]
  • LOC129389069:MPRA-validated peak4638 silencer [Gene]
  • LOC129389070:MPRA-validated peak4639 silencer [Gene]
  • LOC129389071:MPRA-validated peak4641 silencer [Gene]
  • LOC129389072:MPRA-validated peak4643 silencer [Gene]
  • LOC129389073:MPRA-validated peak4644 silencer [Gene]
  • LOC129389074:MPRA-validated peak4646 silencer [Gene]
  • LOC129389075:MPRA-validated peak4647 silencer [Gene]
  • LOC129389076:MPRA-validated peak4650 silencer [Gene]
  • LOC129389077:MPRA-validated peak4651 silencer [Gene]
  • NAA80:N-alpha-acetyltransferase 80, NatH catalytic subunit [Gene - OMIM - HGNC]
  • NDUFAF3:NADH:ubiquinone oxidoreductase complex assembly factor 3 [Gene - OMIM - HGNC]
  • NCKIPSD:NCK interacting protein with SH3 domain [Gene - OMIM - HGNC]
  • NME6:NME/NM23 nucleoside diphosphate kinase 6 [Gene - OMIM - HGNC]
  • NPRL2:NPR2 like, GATOR1 complex subunit [Gene - OMIM - HGNC]
  • LOC132088966:Neanderthal introgressed variant-containing enhancer experimental_70191 [Gene]
  • LOC132088967:Neanderthal introgressed variant-containing enhancer experimental_70326 [Gene]
  • LOC132088968:Neanderthal introgressed variant-containing enhancer experimental_70487 [Gene]
  • LOC132088969:Neanderthal introgressed variant-containing enhancer experimental_70577 [Gene]
  • LOC132088970:Neanderthal introgressed variant-containing enhancer experimental_70587 [Gene]
  • PRKAR2A-AS1:PRKAR2A antisense RNA 1 [Gene - HGNC]
  • PTPN23-DT:PTPN23 divergent transcript [Gene - HGNC]
  • RASSF1-AS1:RASSF1 antisense RNA 1 [Gene - HGNC]
  • RBM5-AS1:RBM5 antisense RNA 1 [Gene - HGNC]
  • RBM5:RNA binding motif protein 5 [Gene - OMIM - HGNC]
  • RBM6:RNA binding motif protein 6 [Gene - OMIM - HGNC]
  • RASSF1:Ras association domain family member 1 [Gene - OMIM - HGNC]
  • SEMA3B-AS1:SEMA3B antisense RNA 1 (head to head) [Gene - HGNC]
  • SEMA3F-AS1:SEMA3F antisense RNA 1 [Gene - HGNC]
  • SETD2:SET domain containing 2, histone lysine methyltransferase [Gene - OMIM - HGNC]
  • SCAP:SREBF chaperone [Gene - OMIM - HGNC]
  • SMARCC1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 [Gene - OMIM - HGNC]
  • LOC121009670:Sharpr-MPRA regulatory region 10077 [Gene]
  • LOC122889081:Sharpr-MPRA regulatory region 10220 [Gene]
  • LOC121009669:Sharpr-MPRA regulatory region 10954 [Gene]
  • LOC121725144:Sharpr-MPRA regulatory region 12028 [Gene]
  • LOC122889084:Sharpr-MPRA regulatory region 12857 [Gene]
  • LOC122889083:Sharpr-MPRA regulatory region 12920 [Gene]
  • LOC122889078:Sharpr-MPRA regulatory region 12992 [Gene]
  • LOC122889082:Sharpr-MPRA regulatory region 13740 [Gene]
  • LOC121009665:Sharpr-MPRA regulatory region 1914 [Gene]
  • LOC112935943:Sharpr-MPRA regulatory region 2536 [Gene]
  • LOC122889087:Sharpr-MPRA regulatory region 2568 [Gene]
  • LOC121009668:Sharpr-MPRA regulatory region 2684 [Gene]
  • LOC121009664:Sharpr-MPRA regulatory region 2695 [Gene]
  • LOC122889086:Sharpr-MPRA regulatory region 3170 [Gene]
  • LOC122889088:Sharpr-MPRA regulatory region 3541 [Gene]
  • LOC122889080:Sharpr-MPRA regulatory region 4085 [Gene]
  • LOC121009666:Sharpr-MPRA regulatory region 5172 [Gene]
  • LOC112935944:Sharpr-MPRA regulatory region 56 [Gene]
  • LOC122889079:Sharpr-MPRA regulatory region 6156 [Gene]
  • LOC112935946:Sharpr-MPRA regulatory region 7935 [Gene]
  • LOC121009667:Sharpr-MPRA regulatory region 8193 [Gene]
  • LOC122889085:Sharpr-MPRA regulatory region 90 [Gene]
  • LOC112935945:Sharpr-MPRA regulatory region 9849 [Gene]
  • TCTA:T cell leukemia translocation altered [Gene - OMIM - HGNC]
  • TRAIP:TRAF interacting protein [Gene - OMIM - HGNC]
  • LOC110121200:VISTA enhancer hs1747 [Gene]
  • WDR6:WD repeat domain 6 [Gene - OMIM - HGNC]
  • XCR1:X-C motif chemokine receptor 1 [Gene - OMIM - HGNC]
  • APEH:acylaminoacyl-peptide hydrolase [Gene - OMIM - HGNC]
  • AMIGO3:adhesion molecule with Ig like domain 3 [Gene - OMIM - HGNC]
  • AMT:aminomethyltransferase [Gene - OMIM - HGNC]
  • ARIH2:ariadne RBR E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • BSN:bassoon presynaptic cytomatrix protein [Gene - OMIM - HGNC]
  • CELSR3:cadherin EGF LAG seven-pass G-type receptor 3 [Gene - OMIM - HGNC]
  • CDHR4:cadherin related family member 4 [Gene - HGNC]
  • CACNA2D2:calcium voltage-gated channel auxiliary subunit alpha2delta 2 [Gene - OMIM - HGNC]
  • CAMP:cathelicidin antimicrobial peptide [Gene - OMIM - HGNC]
  • CDC25A:cell division cycle 25A [Gene - OMIM - HGNC]
  • CSPG5:chondroitin sulfate proteoglycan 5 [Gene - OMIM - HGNC]
  • C3orf18:chromosome 3 open reading frame 18 [Gene - HGNC]
  • C3orf62:chromosome 3 open reading frame 62 [Gene - HGNC]
  • CIMIP7:ciliary microtubule inner protein 7 [Gene - HGNC]
  • CCDC12:coiled-coil domain containing 12 [Gene - HGNC]
  • CCDC51:coiled-coil domain containing 51 [Gene - OMIM - HGNC]
  • CCDC71:coiled-coil domain containing 71 [Gene - HGNC]
  • COL7A1:collagen type VII alpha 1 chain [Gene - OMIM - HGNC]
  • CRIPTO:cripto, EGF-CFC family member [Gene - OMIM - HGNC]
  • CYB561D2:cytochrome b561 family member D2 [Gene - OMIM - HGNC]
  • CISH:cytokine inducible SH2 containing protein [Gene - OMIM - HGNC]
  • DOCK3:dedicator of cytokinesis 3 [Gene - OMIM - HGNC]
  • DAG1:dystroglycan 1 [Gene - OMIM - HGNC]
  • ELP6:elongator acetyltransferase complex subunit 6 [Gene - OMIM - HGNC]
  • FAM240A:family with sequence similarity 240 member A [Gene - HGNC]
  • QRICH1:glutamine rich 1 [Gene - OMIM - HGNC]
  • QARS1:glutaminyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • GPX1:glutathione peroxidase 1 [Gene - OMIM - HGNC]
  • HYAL1:hyaluronidase 1 [Gene - OMIM - HGNC]
  • HYAL2:hyaluronidase 2 [Gene - OMIM - HGNC]
  • HYAL3:hyaluronidase 3 [Gene - OMIM - HGNC]
  • INKA1:inka box actin regulator 1 [Gene - OMIM - HGNC]
  • IMPDH2:inosine monophosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • IP6K1:inositol hexakisphosphate kinase 1 [Gene - OMIM - HGNC]
  • IP6K2:inositol hexakisphosphate kinase 2 [Gene - OMIM - HGNC]
  • IHO1:interactor of HORMAD1 1 [Gene - OMIM - HGNC]
  • IFRD2:interferon related developmental regulator 2 [Gene - OMIM - HGNC]
  • KLHDC8B:kelch domain containing 8B [Gene - OMIM - HGNC]
  • KLHL18:kelch like family member 18 [Gene - OMIM - HGNC]
  • KIF9:kinesin family member 9 [Gene - OMIM - HGNC]
  • LTF:lactotransferrin [Gene - OMIM - HGNC]
  • LAMB2:laminin subunit beta 2 [Gene - OMIM - HGNC]
  • LRRC2:leucine rich repeat containing 2 [Gene - OMIM - HGNC]
  • LSMEM2:leucine rich single-pass membrane protein 2 [Gene - HGNC]
  • LZTFL1:leucine zipper transcription factor like 1 [Gene - OMIM - HGNC]
  • LINC02009:long intergenic non-protein coding RNA 2009 [Gene - HGNC]
  • LINC02019:long intergenic non-protein coding RNA 2019 [Gene - HGNC]
  • LINC02585:long intergenic non-protein coding RNA 2585 [Gene - HGNC]
  • MST1R:macrophage stimulating 1 receptor [Gene - OMIM - HGNC]
  • MST1:macrophage stimulating 1 [Gene - OMIM - HGNC]
  • MIR1226:microRNA 1226 [Gene - HGNC]
  • MIR191:microRNA 191 [Gene - OMIM - HGNC]
  • MIR2115:microRNA 2115 [Gene - HGNC]
  • MIR425:microRNA 425 [Gene - HGNC]
  • MIR4271:microRNA 4271 [Gene - OMIM - HGNC]
  • MIR4443:microRNA 4443 [Gene - HGNC]
  • MIR4787:microRNA 4787 [Gene - HGNC]
  • MIR4793:microRNA 4793 [Gene - HGNC]
  • MIR5193:microRNA 5193 [Gene - HGNC]
  • MIR5787:microRNA 5787 [Gene - HGNC]
  • MIR6823:microRNA 6823 [Gene - HGNC]
  • MIR6824:microRNA 6824 [Gene - HGNC]
  • MIR6872:microRNA 6872 [Gene - HGNC]
  • MIR6890:microRNA 6890 [Gene - HGNC]
  • MIR711:microRNA 711 [Gene - HGNC]
  • MAP4:microtubule associated protein 4 [Gene - OMIM - HGNC]
  • MYL3:myosin light chain 3 [Gene - OMIM - HGNC]
  • NBEAL2:neurobeachin like 2 [Gene - OMIM - HGNC]
  • NICN1:nicolin 1, tubulin polyglutamylase complex subunit [Gene - OMIM - HGNC]
  • PTH1R:parathyroid hormone 1 receptor [Gene - OMIM - HGNC]
  • PLXNB1:plexin B1 [Gene - OMIM - HGNC]
  • P4HTM:prolyl 4-hydroxylase, transmembrane [Gene - OMIM - HGNC]
  • PRKAR2A:protein kinase cAMP-dependent type II regulatory subunit alpha [Gene - OMIM - HGNC]
  • PTPN23:protein tyrosine phosphatase non-receptor type 23 [Gene - OMIM - HGNC]
  • RHOA:ras homolog family member A [Gene - OMIM - HGNC]
  • RTP3:receptor transporter protein 3 [Gene - OMIM - HGNC]
  • RNF123:ring finger protein 123 [Gene - OMIM - HGNC]
  • SEMA3B:semaphorin 3B [Gene - OMIM - HGNC]
  • SEMA3F:semaphorin 3F [Gene - OMIM - HGNC]
  • SPINK8:serine peptidase inhibitor Kazal type 8 (putative) [Gene - HGNC]
  • PRSS50:serine protease 50 [Gene - OMIM - HGNC]
  • SHISA5:shisa family member 5 [Gene - OMIM - HGNC]
  • SNORD13J:small nucleolar RNA, C/D box 13J [Gene - HGNC]
  • SNORD146:small nucleolar RNA, C/D box 146 [Gene - HGNC]
  • SNORA94:small nucleolar RNA, H/ACA box 94 [Gene - HGNC]
  • SLC25A20:solute carrier family 25 member 20 [Gene - OMIM - HGNC]
  • SLC26A6:solute carrier family 26 member 6 [Gene - OMIM - HGNC]
  • SLC38A3:solute carrier family 38 member 3 [Gene - OMIM - HGNC]
  • TREX1:three prime repair exonuclease 1 [Gene - OMIM - HGNC]
  • TMA7:translation machinery associated 7 homolog [Gene - OMIM - HGNC]
  • TMIE:transmembrane inner ear [Gene - OMIM - HGNC]
  • TMEM115:transmembrane protein 115 [Gene - OMIM - HGNC]
  • TMEM89:transmembrane protein 89 [Gene - HGNC]
  • TUSC2:tumor suppressor 2, mitochondrial calcium regulator [Gene - OMIM - HGNC]
  • UQCRC1:ubiquinol-cytochrome c reductase core protein 1 [Gene - OMIM - HGNC]
  • UBA7:ubiquitin like modifier activating enzyme 7 [Gene - OMIM - HGNC]
  • USP19:ubiquitin specific peptidase 19 [Gene - OMIM - HGNC]
  • USP4:ubiquitin specific peptidase 4 [Gene - OMIM - HGNC]
  • LOC101928965:uncharacterized LOC101928965 [Gene]
  • UCN2:urocortin 2 [Gene - OMIM - HGNC]
  • ZMYND10:zinc finger MYND-type containing 10 [Gene - OMIM - HGNC]
  • ZNF589:zinc finger protein 589 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p21.31-21.2
Genomic location:
Preferred name:
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4
HGVS:
  • NC_000003.12:g.(?_45879883)_(50749922_?)dup
  • NC_000003.10:g.(?_45896379)_(50762357_?)dup
  • NC_000003.11:g.(?_45921375)_(50787353_?)dup
Links:
dbVar: nssv3396391; dbVar: nssv575302; dbVar: nsv491646
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000173009ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 23, 2013) 		unknownclinical 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

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 4, SCV000173009.3

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

Last Updated: Sep 1, 2024