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GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)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:
RCV000054093.7

Allele description [Variation Report for GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1]

GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1

Genes:
  • ARL5A:ADP ribosylation factor like GTPase 5A [Gene - OMIM - HGNC]
  • ARL6IP6:ADP ribosylation factor like GTPase 6 interacting protein 6 [Gene - OMIM - HGNC]
  • LOC129934897:ATAC-STARR-seq lymphoblastoid active region 16622 [Gene]
  • LOC129934900:ATAC-STARR-seq lymphoblastoid active region 16623 [Gene]
  • LOC129934901:ATAC-STARR-seq lymphoblastoid active region 16624 [Gene]
  • LOC129934902:ATAC-STARR-seq lymphoblastoid active region 16625 [Gene]
  • LOC129934904:ATAC-STARR-seq lymphoblastoid active region 16627 [Gene]
  • LOC129934905:ATAC-STARR-seq lymphoblastoid active region 16628 [Gene]
  • LOC129934907:ATAC-STARR-seq lymphoblastoid active region 16629 [Gene]
  • LOC129934908:ATAC-STARR-seq lymphoblastoid active region 16630 [Gene]
  • LOC129934909:ATAC-STARR-seq lymphoblastoid active region 16631 [Gene]
  • LOC129934910:ATAC-STARR-seq lymphoblastoid active region 16632 [Gene]
  • LOC129934912:ATAC-STARR-seq lymphoblastoid active region 16633 [Gene]
  • LOC129934913:ATAC-STARR-seq lymphoblastoid active region 16634 [Gene]
  • LOC129934914:ATAC-STARR-seq lymphoblastoid active region 16635 [Gene]
  • LOC129934915:ATAC-STARR-seq lymphoblastoid active region 16636 [Gene]
  • LOC129934917:ATAC-STARR-seq lymphoblastoid active region 16639 [Gene]
  • LOC129934920:ATAC-STARR-seq lymphoblastoid active region 16640 [Gene]
  • LOC129934921:ATAC-STARR-seq lymphoblastoid active region 16641 [Gene]
  • LOC129934922:ATAC-STARR-seq lymphoblastoid active region 16642 [Gene]
  • LOC129934923:ATAC-STARR-seq lymphoblastoid active region 16643 [Gene]
  • LOC129934924:ATAC-STARR-seq lymphoblastoid active region 16644 [Gene]
  • LOC129934926:ATAC-STARR-seq lymphoblastoid active region 16645 [Gene]
  • LOC129934927:ATAC-STARR-seq lymphoblastoid active region 16646 [Gene]
  • LOC129934930:ATAC-STARR-seq lymphoblastoid active region 16648 [Gene]
  • LOC129934931:ATAC-STARR-seq lymphoblastoid active region 16649 [Gene]
  • LOC129934932:ATAC-STARR-seq lymphoblastoid active region 16650 [Gene]
  • LOC129934933:ATAC-STARR-seq lymphoblastoid active region 16651 [Gene]
  • LOC129934935:ATAC-STARR-seq lymphoblastoid active region 16655 [Gene]
  • LOC129934936:ATAC-STARR-seq lymphoblastoid active region 16656 [Gene]
  • LOC129934938:ATAC-STARR-seq lymphoblastoid active region 16657 [Gene]
  • LOC129934940:ATAC-STARR-seq lymphoblastoid active region 16658 [Gene]
  • LOC129934942:ATAC-STARR-seq lymphoblastoid active region 16659 [Gene]
  • LOC129934944:ATAC-STARR-seq lymphoblastoid active region 16661 [Gene]
  • LOC129934945:ATAC-STARR-seq lymphoblastoid active region 16662 [Gene]
  • LOC129934946:ATAC-STARR-seq lymphoblastoid active region 16663 [Gene]
  • LOC129934950:ATAC-STARR-seq lymphoblastoid active region 16664 [Gene]
  • LOC129934952:ATAC-STARR-seq lymphoblastoid active region 16665 [Gene]
  • LOC129934953:ATAC-STARR-seq lymphoblastoid active region 16666 [Gene]
  • LOC129934954:ATAC-STARR-seq lymphoblastoid active region 16667 [Gene]
  • LOC129934955:ATAC-STARR-seq lymphoblastoid active region 16668 [Gene]
  • LOC129934956:ATAC-STARR-seq lymphoblastoid active region 16669 [Gene]
  • LOC129934960:ATAC-STARR-seq lymphoblastoid active region 16670 [Gene]
  • LOC129934961:ATAC-STARR-seq lymphoblastoid active region 16671 [Gene]
  • LOC129934962:ATAC-STARR-seq lymphoblastoid active region 16672 [Gene]
  • LOC129934963:ATAC-STARR-seq lymphoblastoid active region 16673 [Gene]
  • LOC129934964:ATAC-STARR-seq lymphoblastoid active region 16674 [Gene]
  • LOC129934965:ATAC-STARR-seq lymphoblastoid active region 16675 [Gene]
  • LOC129934967:ATAC-STARR-seq lymphoblastoid active region 16676 [Gene]
  • LOC129934968:ATAC-STARR-seq lymphoblastoid active region 16677 [Gene]
  • LOC129934969:ATAC-STARR-seq lymphoblastoid active region 16678 [Gene]
  • LOC129934975:ATAC-STARR-seq lymphoblastoid active region 16679 [Gene]
  • LOC129934980:ATAC-STARR-seq lymphoblastoid active region 16680 [Gene]
  • LOC129934983:ATAC-STARR-seq lymphoblastoid active region 16681 [Gene]
  • LOC129934984:ATAC-STARR-seq lymphoblastoid active region 16682 [Gene]
  • LOC129934985:ATAC-STARR-seq lymphoblastoid active region 16683 [Gene]
  • LOC129934986:ATAC-STARR-seq lymphoblastoid active region 16684 [Gene]
  • LOC129934988:ATAC-STARR-seq lymphoblastoid active region 16688 [Gene]
  • LOC129934989:ATAC-STARR-seq lymphoblastoid active region 16689 [Gene]
  • LOC129934991:ATAC-STARR-seq lymphoblastoid active region 16690 [Gene]
  • LOC129934992:ATAC-STARR-seq lymphoblastoid active region 16691 [Gene]
  • LOC129934993:ATAC-STARR-seq lymphoblastoid active region 16692 [Gene]
  • LOC129934994:ATAC-STARR-seq lymphoblastoid active region 16693 [Gene]
  • LOC129934995:ATAC-STARR-seq lymphoblastoid active region 16694 [Gene]
  • LOC129934996:ATAC-STARR-seq lymphoblastoid active region 16695 [Gene]
  • LOC129934998:ATAC-STARR-seq lymphoblastoid active region 16696 [Gene]
  • LOC129934999:ATAC-STARR-seq lymphoblastoid active region 16697 [Gene]
  • LOC129935000:ATAC-STARR-seq lymphoblastoid active region 16698 [Gene]
  • LOC129935001:ATAC-STARR-seq lymphoblastoid active region 16699 [Gene]
  • LOC129935002:ATAC-STARR-seq lymphoblastoid active region 16700 [Gene]
  • LOC129935003:ATAC-STARR-seq lymphoblastoid active region 16701 [Gene]
  • LOC129935006:ATAC-STARR-seq lymphoblastoid active region 16702 [Gene]
  • LOC129935008:ATAC-STARR-seq lymphoblastoid active region 16703 [Gene]
  • LOC129935012:ATAC-STARR-seq lymphoblastoid active region 16704 [Gene]
  • LOC129935013:ATAC-STARR-seq lymphoblastoid active region 16705 [Gene]
  • LOC129935014:ATAC-STARR-seq lymphoblastoid active region 16706 [Gene]
  • LOC129935015:ATAC-STARR-seq lymphoblastoid active region 16707 [Gene]
  • LOC129935016:ATAC-STARR-seq lymphoblastoid active region 16708 [Gene]
  • LOC129935019:ATAC-STARR-seq lymphoblastoid active region 16709 [Gene]
  • LOC129935020:ATAC-STARR-seq lymphoblastoid active region 16710 [Gene]
  • LOC129935022:ATAC-STARR-seq lymphoblastoid active region 16712 [Gene]
  • LOC129935023:ATAC-STARR-seq lymphoblastoid active region 16713 [Gene]
  • LOC129935027:ATAC-STARR-seq lymphoblastoid active region 16714 [Gene]
  • LOC129935028:ATAC-STARR-seq lymphoblastoid active region 16715 [Gene]
  • LOC129935029:ATAC-STARR-seq lymphoblastoid active region 16716 [Gene]
  • LOC129935032:ATAC-STARR-seq lymphoblastoid active region 16718 [Gene]
  • LOC129935035:ATAC-STARR-seq lymphoblastoid active region 16719 [Gene]
  • LOC129935036:ATAC-STARR-seq lymphoblastoid active region 16720 [Gene]
  • LOC129935037:ATAC-STARR-seq lymphoblastoid active region 16721 [Gene]
  • LOC129935038:ATAC-STARR-seq lymphoblastoid active region 16722 [Gene]
  • LOC129934898:ATAC-STARR-seq lymphoblastoid silent region 12002 [Gene]
  • LOC129934899:ATAC-STARR-seq lymphoblastoid silent region 12003 [Gene]
  • LOC129934903:ATAC-STARR-seq lymphoblastoid silent region 12004 [Gene]
  • LOC129934906:ATAC-STARR-seq lymphoblastoid silent region 12005 [Gene]
  • LOC129934911:ATAC-STARR-seq lymphoblastoid silent region 12006 [Gene]
  • LOC129934916:ATAC-STARR-seq lymphoblastoid silent region 12007 [Gene]
  • LOC129934918:ATAC-STARR-seq lymphoblastoid silent region 12008 [Gene]
  • LOC129934919:ATAC-STARR-seq lymphoblastoid silent region 12009 [Gene]
  • LOC129934925:ATAC-STARR-seq lymphoblastoid silent region 12010 [Gene]
  • LOC129934928:ATAC-STARR-seq lymphoblastoid silent region 12011 [Gene]
  • LOC129934929:ATAC-STARR-seq lymphoblastoid silent region 12012 [Gene]
  • LOC129934934:ATAC-STARR-seq lymphoblastoid silent region 12013 [Gene]
  • LOC129934937:ATAC-STARR-seq lymphoblastoid silent region 12014 [Gene]
  • LOC129934939:ATAC-STARR-seq lymphoblastoid silent region 12015 [Gene]
  • LOC129934941:ATAC-STARR-seq lymphoblastoid silent region 12016 [Gene]
  • LOC129934943:ATAC-STARR-seq lymphoblastoid silent region 12018 [Gene]
  • LOC129934947:ATAC-STARR-seq lymphoblastoid silent region 12019 [Gene]
  • LOC129934948:ATAC-STARR-seq lymphoblastoid silent region 12020 [Gene]
  • LOC129934949:ATAC-STARR-seq lymphoblastoid silent region 12021 [Gene]
  • LOC129934951:ATAC-STARR-seq lymphoblastoid silent region 12022 [Gene]
  • LOC129934957:ATAC-STARR-seq lymphoblastoid silent region 12024 [Gene]
  • LOC129934958:ATAC-STARR-seq lymphoblastoid silent region 12025 [Gene]
  • LOC129934959:ATAC-STARR-seq lymphoblastoid silent region 12026 [Gene]
  • LOC129934966:ATAC-STARR-seq lymphoblastoid silent region 12027 [Gene]
  • LOC129934970:ATAC-STARR-seq lymphoblastoid silent region 12028 [Gene]
  • LOC129934971:ATAC-STARR-seq lymphoblastoid silent region 12029 [Gene]
  • LOC129934972:ATAC-STARR-seq lymphoblastoid silent region 12030 [Gene]
  • LOC129934973:ATAC-STARR-seq lymphoblastoid silent region 12031 [Gene]
  • LOC129934974:ATAC-STARR-seq lymphoblastoid silent region 12034 [Gene]
  • LOC129934976:ATAC-STARR-seq lymphoblastoid silent region 12036 [Gene]
  • LOC129934977:ATAC-STARR-seq lymphoblastoid silent region 12037 [Gene]
  • LOC129934978:ATAC-STARR-seq lymphoblastoid silent region 12038 [Gene]
  • LOC129934979:ATAC-STARR-seq lymphoblastoid silent region 12039 [Gene]
  • LOC129934981:ATAC-STARR-seq lymphoblastoid silent region 12040 [Gene]
  • LOC129934982:ATAC-STARR-seq lymphoblastoid silent region 12041 [Gene]
  • LOC129934987:ATAC-STARR-seq lymphoblastoid silent region 12044 [Gene]
  • LOC129934990:ATAC-STARR-seq lymphoblastoid silent region 12045 [Gene]
  • LOC129934997:ATAC-STARR-seq lymphoblastoid silent region 12047 [Gene]
  • LOC129935004:ATAC-STARR-seq lymphoblastoid silent region 12048 [Gene]
  • LOC129935005:ATAC-STARR-seq lymphoblastoid silent region 12049 [Gene]
  • LOC129935007:ATAC-STARR-seq lymphoblastoid silent region 12050 [Gene]
  • LOC129935009:ATAC-STARR-seq lymphoblastoid silent region 12051 [Gene]
  • LOC129935010:ATAC-STARR-seq lymphoblastoid silent region 12052 [Gene]
  • LOC129935011:ATAC-STARR-seq lymphoblastoid silent region 12053 [Gene]
  • LOC129935017:ATAC-STARR-seq lymphoblastoid silent region 12054 [Gene]
  • LOC129935018:ATAC-STARR-seq lymphoblastoid silent region 12056 [Gene]
  • LOC129935021:ATAC-STARR-seq lymphoblastoid silent region 12057 [Gene]
  • LOC129935024:ATAC-STARR-seq lymphoblastoid silent region 12058 [Gene]
  • LOC129935025:ATAC-STARR-seq lymphoblastoid silent region 12059 [Gene]
  • LOC129935026:ATAC-STARR-seq lymphoblastoid silent region 12060 [Gene]
  • LOC129935030:ATAC-STARR-seq lymphoblastoid silent region 12061 [Gene]
  • LOC129935031:ATAC-STARR-seq lymphoblastoid silent region 12062 [Gene]
  • LOC129935033:ATAC-STARR-seq lymphoblastoid silent region 12063 [Gene]
  • LOC129935034:ATAC-STARR-seq lymphoblastoid silent region 12064 [Gene]
  • BAZ2B-AS1:BAZ2B antisense RNA 1 [Gene - HGNC]
  • LOC126806369:BRD4-independent group 4 enhancer GRCh37_chr2:150734031-150735230 [Gene]
  • LOC126806370:BRD4-independent group 4 enhancer GRCh37_chr2:151199972-151201171 [Gene]
  • LOC126806373:BRD4-independent group 4 enhancer GRCh37_chr2:152410007-152411206 [Gene]
  • LOC126806374:BRD4-independent group 4 enhancer GRCh37_chr2:153474731-153475930 [Gene]
  • LOC126806375:BRD4-independent group 4 enhancer GRCh37_chr2:153502126-153503325 [Gene]
  • LOC126806380:BRD4-independent group 4 enhancer GRCh37_chr2:154449049-154450248 [Gene]
  • LOC126806381:BRD4-independent group 4 enhancer GRCh37_chr2:155097618-155098817 [Gene]
  • LOC126806387:BRD4-independent group 4 enhancer GRCh37_chr2:158590437-158591636 [Gene]
  • CCDC148-AS1:CCDC148 antisense RNA 1 [Gene - HGNC]
  • CD302:CD302 molecule [Gene - OMIM - HGNC]
  • LOC126806371:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:151476766-151477965 [Gene]
  • LOC126806376:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:153519134-153520333 [Gene]
  • LOC126806382:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:155956194-155957393 [Gene]
  • LOC126806386:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:158320283-158321482 [Gene]
  • LOC126806390:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:160205700-160206899 [Gene]
  • LOC115945200:CRISPRi-validated cis-regulatory element chr2.5074 [Gene]
  • LOC117152611:DPP4 -4.2 kb glucocorticoid response element [Gene]
  • DPP4-DT:DPP4 divergent transcript [Gene - HGNC]
  • LOC117152610:DPP4 promoter region [Gene]
  • GALNT13-AS1:GALNT13 antisense RNA 1 [Gene - HGNC]
  • LOC108175345:GCG promoter region [Gene]
  • LOC111556122:HNF1 motif-containing MPRA enhancer 37 [Gene]
  • LOC108281133:ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer [Gene]
  • KCNH7-AS1:KCNH7 antisense RNA 1 [Gene - HGNC]
  • LYPD6:LY6/PLAUR domain containing 6 [Gene - OMIM - HGNC]
  • LYPD6B:LY6/PLAUR domain containing 6B [Gene - HGNC]
  • LY75-CD302:LY75-CD302 readthrough [Gene - HGNC]
  • LOC126806368:MED14-independent group 3 enhancer GRCh37_chr2:150443500-150444699 [Gene]
  • LOC126806377:MED14-independent group 3 enhancer GRCh37_chr2:153557503-153558702 [Gene]
  • LOC126806378:MED14-independent group 3 enhancer GRCh37_chr2:153702825-153704024 [Gene]
  • LOC126806383:MED14-independent group 3 enhancer GRCh37_chr2:156087204-156088403 [Gene]
  • LOC126806384:MED14-independent group 3 enhancer GRCh37_chr2:156939984-156941183 [Gene]
  • LOC126806388:MED14-independent group 3 enhancer GRCh37_chr2:158694657-158695856 [Gene]
  • LOC126806389:MED14-independent group 3 enhancer GRCh37_chr2:158969881-158971080 [Gene]
  • LOC126806391:MED14-independent group 3 enhancer GRCh37_chr2:160294250-160295449 [Gene]
  • LOC126806393:MED14-independent group 3 enhancer GRCh37_chr2:163175227-163176426 [Gene]
  • MMADHC-DT:MMADHC divergent transcript [Gene - HGNC]
  • LOC129388931:MPRA-validated peak3898 silencer [Gene]
  • LOC129388932:MPRA-validated peak3900 silencer [Gene]
  • LOC129388933:MPRA-validated peak3904 silencer [Gene]
  • LOC129388934:MPRA-validated peak3905 silencer [Gene]
  • LOC129388935:MPRA-validated peak3906 silencer [Gene]
  • LOC129388936:MPRA-validated peak3909 silencer [Gene]
  • LOC129388937:MPRA-validated peak3910 silencer [Gene]
  • NMI:N-myc and STAT interactor [Gene - OMIM - HGNC]
  • LOC108348024:NEB-ARL5A intergenic CAGE-defined B cell enhancer [Gene]
  • LOC132088760:Neanderthal introgressed variant-containing enhancer experimental_53218 [Gene]
  • LOC132088761:Neanderthal introgressed variant-containing enhancer experimental_53336 [Gene]
  • LOC132088762:Neanderthal introgressed variant-containing enhancer experimental_53410 [Gene]
  • LOC132088763:Neanderthal introgressed variant-containing enhancer experimental_53422 [Gene]
  • LOC132088764:Neanderthal introgressed variant-containing enhancer experimental_53476 [Gene]
  • LOC132088765:Neanderthal introgressed variant-containing enhancer experimental_53495 [Gene]
  • LOC132088766:Neanderthal introgressed variant-containing enhancer experimental_53540 [Gene]
  • LOC132090680:Neanderthal introgressed variant-containing enhancer experimental_53569 [Gene]
  • LOC132090681:Neanderthal introgressed variant-containing enhancer experimental_53596 [Gene]
  • LOC132090682:Neanderthal introgressed variant-containing enhancer experimental_53624 [Gene]
  • LOC132088767:Neanderthal introgressed variant-containing enhancer experimental_53635 [Gene]
  • LOC132090683:Neanderthal introgressed variant-containing enhancer experimental_53665 [Gene]
  • LOC132088768:Neanderthal introgressed variant-containing enhancer experimental_53748 [Gene]
  • LOC132088769:Neanderthal introgressed variant-containing enhancer experimental_53833 [Gene]
  • LOC132088770:Neanderthal introgressed variant-containing enhancer experimental_53909 [Gene]
  • LOC132088771:Neanderthal introgressed variant-containing enhancer experimental_53950 [Gene]
  • LOC132088772:Neanderthal introgressed variant-containing enhancer experimental_53984 [Gene]
  • LOC132090684:Neanderthal introgressed variant-containing enhancer experimental_54032 [Gene]
  • LOC132088773:Neanderthal introgressed variant-containing enhancer experimental_54109 [Gene]
  • LOC132088774:Neanderthal introgressed variant-containing enhancer experimental_54167 [Gene]
  • LOC132088775:Neanderthal introgressed variant-containing enhancer experimental_54344 [Gene]
  • LOC132090685:Neanderthal introgressed variant-containing enhancer experimental_54373 [Gene]
  • LOC132088776:Neanderthal introgressed variant-containing enhancer experimental_54429 [Gene]
  • LOC132088777:Neanderthal introgressed variant-containing enhancer experimental_54722 [Gene]
  • LOC132088778:Neanderthal introgressed variant-containing enhancer experimental_54734 [Gene]
  • LOC132088779:Neanderthal introgressed variant-containing enhancer experimental_54744 [Gene]
  • LOC132088780:Neanderthal introgressed variant-containing enhancer experimental_54751 [Gene]
  • LOC132088781:Neanderthal introgressed variant-containing enhancer experimental_54752 [Gene]
  • LOC132088782:Neanderthal introgressed variant-containing enhancer experimental_54812 [Gene]
  • LOC132088783:Neanderthal introgressed variant-containing enhancer experimental_54939 [Gene]
  • LOC132088784:Neanderthal introgressed variant-containing enhancer experimental_54994 [Gene]
  • LOC132088785:Neanderthal introgressed variant-containing enhancer experimental_55025 [Gene]
  • LOC132088786:Neanderthal introgressed variant-containing enhancer experimental_55061 [Gene]
  • LOC132088787:Neanderthal introgressed variant-containing enhancer experimental_55125 [Gene]
  • LOC132088788:Neanderthal introgressed variant-containing enhancer experimental_55234 [Gene]
  • LOC132088789:Neanderthal introgressed variant-containing enhancer experimental_55244 [Gene]
  • LOC132088790:Neanderthal introgressed variant-containing enhancer experimental_55297 [Gene]
  • LOC132088791:Neanderthal introgressed variant-containing enhancer experimental_55438 [Gene]
  • LOC126806372:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:151519399-151520598 [Gene]
  • LOC126806379:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:153925160-153926359 [Gene]
  • LOC126806385:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:158102473-158103672 [Gene]
  • LOC126806392:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:162949234-162950433 [Gene]
  • PKP4-AS1:PKP4 antisense RNA 1 [Gene - HGNC]
  • PSMD14-DT:PSMD14 divergent transcript [Gene - HGNC]
  • RBM43:RNA binding motif protein 43 [Gene - HGNC]
  • RBMS1:RNA binding motif single stranded interacting protein 1 [Gene - OMIM - HGNC]
  • RND3:Rho family GTPase 3 [Gene - OMIM - HGNC]
  • LOC122847305:Sharpr-MPRA regulatory region 10348 [Gene]
  • LOC122847307:Sharpr-MPRA regulatory region 11367 [Gene]
  • LOC122847298:Sharpr-MPRA regulatory region 11721 [Gene]
  • LOC121725105:Sharpr-MPRA regulatory region 13798 [Gene]
  • LOC120977011:Sharpr-MPRA regulatory region 14439 [Gene]
  • LOC122847301:Sharpr-MPRA regulatory region 14614 [Gene]
  • LOC120961787:Sharpr-MPRA regulatory region 14725 [Gene]
  • LOC122847293:Sharpr-MPRA regulatory region 14986 [Gene]
  • LOC120977009:Sharpr-MPRA regulatory region 15124 [Gene]
  • LOC122847299:Sharpr-MPRA regulatory region 156 [Gene]
  • LOC122847302:Sharpr-MPRA regulatory region 15701 [Gene]
  • LOC112806055:Sharpr-MPRA regulatory region 2662 [Gene]
  • LOC122819167:Sharpr-MPRA regulatory region 317 [Gene]
  • LOC122847304:Sharpr-MPRA regulatory region 3711 [Gene]
  • LOC112806054:Sharpr-MPRA regulatory region 4301 [Gene]
  • LOC122847296:Sharpr-MPRA regulatory region 469 [Gene]
  • LOC120977012:Sharpr-MPRA regulatory region 4770 [Gene]
  • LOC120977010:Sharpr-MPRA regulatory region 6347 [Gene]
  • LOC112806056:Sharpr-MPRA regulatory region 6450 [Gene]
  • LOC122847297:Sharpr-MPRA regulatory region 8392 [Gene]
  • LOC122847295:Sharpr-MPRA regulatory region 847 [Gene]
  • LOC122847300:Sharpr-MPRA regulatory region 8835 [Gene]
  • LOC122847306:Sharpr-MPRA regulatory region 9339 [Gene]
  • LOC122847294:Sharpr-MPRA regulatory region 9612 [Gene]
  • LOC122819166:Sharpr-MPRA regulatory region 9639 [Gene]
  • LOC122847303:Sharpr-MPRA regulatory region 9806 [Gene]
  • TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
  • TANK-AS1:TANK antisense RNA 1 [Gene - HGNC]
  • TNFAIP6:TNF alpha induced protein 6 [Gene - OMIM - HGNC]
  • TANK:TRAF family member associated NFKB activator [Gene - OMIM - HGNC]
  • LOC110121086:VISTA enhancer hs1386 [Gene]
  • LOC110121120:VISTA enhancer hs1477 [Gene]
  • LOC110121242:VISTA enhancer hs2027 [Gene]
  • LOC114827830:VISTA enhancer hs2337 [Gene]
  • LOC110120673:VISTA enhancer hs411 [Gene]
  • LOC110120674:VISTA enhancer hs413 [Gene]
  • LOC110120675:VISTA enhancer hs415 [Gene]
  • LOC110120676:VISTA enhancer hs416 [Gene]
  • LOC110120708:VISTA enhancer hs573 [Gene]
  • LOC110120710:VISTA enhancer hs580 [Gene]
  • LOC110120736:VISTA enhancer hs662 [Gene]
  • WDSUB1:WD repeat, sterile alpha motif and U-box domain containing 1 [Gene - OMIM - HGNC]
  • ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]
  • ACVR1C:activin A receptor type 1C [Gene - OMIM - HGNC]
  • BAZ2B:bromodomain adjacent to zinc finger domain 2B [Gene - OMIM - HGNC]
  • CACNB4:calcium voltage-gated channel auxiliary subunit beta 4 [Gene - OMIM - HGNC]
  • CCDC148:coiled-coil domain containing 148 [Gene - HGNC]
  • CYTIP:cytohesin 1 interacting protein [Gene - OMIM - HGNC]
  • DAPL1:death associated protein like 1 [Gene - HGNC]
  • DPP4:dipeptidyl peptidase 4 [Gene - OMIM - HGNC]
  • ERMN:ermin [Gene - OMIM - HGNC]
  • FAP:fibroblast activation protein alpha [Gene - OMIM - HGNC]
  • FMNL2:formin like 2 [Gene - OMIM - HGNC]
  • GCG:glucagon [Gene - OMIM - HGNC]
  • GPD2:glycerol-3-phosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • GCA:grancalcin [Gene - OMIM - HGNC]
  • ITGB6:integrin subunit beta 6 [Gene - OMIM - HGNC]
  • IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
  • KIF5C:kinesin family member 5C [Gene - OMIM - HGNC]
  • LINC01806:long intergenic non-protein coding RNA 1806 [Gene - HGNC]
  • LINC01817:long intergenic non-protein coding RNA 1817 [Gene - HGNC]
  • LINC01818:long intergenic non-protein coding RNA 1818 [Gene - HGNC]
  • LINC01876:long intergenic non-protein coding RNA 1876 [Gene - HGNC]
  • LINC01920:long intergenic non-protein coding RNA 1920 [Gene - HGNC]
  • LINC01931:long intergenic non-protein coding RNA 1931 [Gene - HGNC]
  • LINC02478:long intergenic non-protein coding RNA 2478 [Gene - HGNC]
  • LINC02612:long intergenic non-protein coding RNA 2612 [Gene - HGNC]
  • LY75:lymphocyte antigen 75 [Gene - OMIM - HGNC]
  • MARCHF7:membrane associated ring-CH-type finger 7 [Gene - OMIM - HGNC]
  • MMADHC:metabolism of cobalamin associated D [Gene - OMIM - HGNC]
  • MIR4773-1:microRNA 4773-1 [Gene - HGNC]
  • MIR4773-2:microRNA 4773-2 [Gene - HGNC]
  • MIR4785:microRNA 4785 [Gene - HGNC]
  • MIR6888:microRNA 6888 [Gene - HGNC]
  • MIR9899:microRNA 9899 [Gene - HGNC]
  • NEB:nebulin [Gene - OMIM - HGNC]
  • NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]
  • PLA2R1:phospholipase A2 receptor 1 [Gene - OMIM - HGNC]
  • PKP4:plakophilin 4 [Gene - OMIM - HGNC]
  • GALNT13:polypeptide N-acetylgalactosaminyltransferase 13 [Gene - OMIM - HGNC]
  • GALNT5:polypeptide N-acetylgalactosaminyltransferase 5 [Gene - OMIM - HGNC]
  • KCNJ3:potassium inwardly rectifying channel subfamily J member 3 [Gene - OMIM - HGNC]
  • KCNH7:potassium voltage-gated channel subfamily H member 7 [Gene - OMIM - HGNC]
  • PRPF40A:pre-mRNA processing factor 40 homolog A [Gene - OMIM - HGNC]
  • PSMD14:proteasome 26S subunit, non-ATPase 14 [Gene - OMIM - HGNC]
  • RIF1:replication timing regulatory factor 1 [Gene - OMIM - HGNC]
  • RPRM:reprimo, TP53 dependent G2 arrest mediator homolog [Gene - OMIM - HGNC]
  • STAM2:signal transducing adaptor molecule 2 [Gene - OMIM - HGNC]
  • SLC4A10:solute carrier family 4 member 10 [Gene - OMIM - HGNC]
  • TRA-CGC3-1:tRNA-Ala (anticodon CGC) 3-1 [Gene - HGNC]
  • TRG-GCC2-2:tRNA-Gly (anticodon GCC) 2-2 [Gene - HGNC]
  • TANC1:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [Gene - OMIM - HGNC]
  • LOC101928553:uncharacterized LOC101928553 [Gene]
  • LOC101929319:uncharacterized LOC101929319 [Gene]
  • LOC101929532:uncharacterized LOC101929532 [Gene]
  • FLJ46875:uncharacterized LOC440918 [Gene]
  • UPP2:uridine phosphorylase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q23.1-24.3
Genomic location:
Preferred name:
GRCh38/hg38 2q23.1-24.3(chr2:148917286-163204623)x1
HGVS:
  • NC_000002.12:g.(?_148917286)_(163204623_?)del
  • NC_000002.10:g.(?_149391325)_(163769379_?)del
  • NC_000002.11:g.(?_149674855)_(164061133_?)del
Links:
dbVar: nssv577722; dbVar: nsv532761
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
SCV000081457ISCA site 17

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 17, SCV000081457.4

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

Last Updated: May 7, 2024