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GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 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:
RCV000053104.6

Allele description [Variation Report for GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3]

GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3

Genes:
  • ARVCF:ARVCF delta catenin family member [Gene - OMIM - HGNC]
  • LOC130066890:ATAC-STARR-seq lymphoblastoid active region 18609 [Gene]
  • LOC130066891:ATAC-STARR-seq lymphoblastoid active region 18610 [Gene]
  • LOC130066897:ATAC-STARR-seq lymphoblastoid active region 18611 [Gene]
  • LOC130066900:ATAC-STARR-seq lymphoblastoid active region 18614 [Gene]
  • LOC130066901:ATAC-STARR-seq lymphoblastoid active region 18615 [Gene]
  • LOC130066902:ATAC-STARR-seq lymphoblastoid active region 18616 [Gene]
  • LOC130066903:ATAC-STARR-seq lymphoblastoid active region 18617 [Gene]
  • LOC130066904:ATAC-STARR-seq lymphoblastoid active region 18618 [Gene]
  • LOC130066905:ATAC-STARR-seq lymphoblastoid active region 18619 [Gene]
  • LOC130066907:ATAC-STARR-seq lymphoblastoid active region 18620 [Gene]
  • LOC130066908:ATAC-STARR-seq lymphoblastoid active region 18621 [Gene]
  • LOC130066911:ATAC-STARR-seq lymphoblastoid active region 18622 [Gene]
  • LOC130066912:ATAC-STARR-seq lymphoblastoid active region 18623 [Gene]
  • LOC130066913:ATAC-STARR-seq lymphoblastoid active region 18627 [Gene]
  • LOC130066914:ATAC-STARR-seq lymphoblastoid active region 18628 [Gene]
  • LOC130066915:ATAC-STARR-seq lymphoblastoid active region 18629 [Gene]
  • LOC130066916:ATAC-STARR-seq lymphoblastoid active region 18630 [Gene]
  • LOC130066917:ATAC-STARR-seq lymphoblastoid active region 18631 [Gene]
  • LOC130066918:ATAC-STARR-seq lymphoblastoid active region 18632 [Gene]
  • LOC130066923:ATAC-STARR-seq lymphoblastoid active region 18633 [Gene]
  • LOC130066924:ATAC-STARR-seq lymphoblastoid active region 18634 [Gene]
  • LOC130066925:ATAC-STARR-seq lymphoblastoid active region 18638 [Gene]
  • LOC130066926:ATAC-STARR-seq lymphoblastoid active region 18639 [Gene]
  • LOC130066927:ATAC-STARR-seq lymphoblastoid active region 18640 [Gene]
  • LOC130066928:ATAC-STARR-seq lymphoblastoid active region 18641 [Gene]
  • LOC130066929:ATAC-STARR-seq lymphoblastoid active region 18642 [Gene]
  • LOC130066930:ATAC-STARR-seq lymphoblastoid active region 18643 [Gene]
  • LOC130066931:ATAC-STARR-seq lymphoblastoid active region 18644 [Gene]
  • LOC130066935:ATAC-STARR-seq lymphoblastoid active region 18645 [Gene]
  • LOC130066936:ATAC-STARR-seq lymphoblastoid active region 18646 [Gene]
  • LOC130066938:ATAC-STARR-seq lymphoblastoid active region 18647 [Gene]
  • LOC130066939:ATAC-STARR-seq lymphoblastoid active region 18648 [Gene]
  • LOC130066941:ATAC-STARR-seq lymphoblastoid active region 18649 [Gene]
  • LOC130066942:ATAC-STARR-seq lymphoblastoid active region 18650 [Gene]
  • LOC130066943:ATAC-STARR-seq lymphoblastoid active region 18651 [Gene]
  • LOC130066944:ATAC-STARR-seq lymphoblastoid active region 18652 [Gene]
  • LOC130066946:ATAC-STARR-seq lymphoblastoid active region 18653 [Gene]
  • LOC130066947:ATAC-STARR-seq lymphoblastoid active region 18654 [Gene]
  • LOC130066953:ATAC-STARR-seq lymphoblastoid active region 18658 [Gene]
  • LOC130066957:ATAC-STARR-seq lymphoblastoid active region 18660 [Gene]
  • LOC130066959:ATAC-STARR-seq lymphoblastoid active region 18663 [Gene]
  • LOC130066963:ATAC-STARR-seq lymphoblastoid active region 18664 [Gene]
  • LOC130066964:ATAC-STARR-seq lymphoblastoid active region 18665 [Gene]
  • LOC130066968:ATAC-STARR-seq lymphoblastoid active region 18666 [Gene]
  • LOC130066969:ATAC-STARR-seq lymphoblastoid active region 18667 [Gene]
  • LOC130066970:ATAC-STARR-seq lymphoblastoid active region 18668 [Gene]
  • LOC130066971:ATAC-STARR-seq lymphoblastoid active region 18669 [Gene]
  • LOC130066973:ATAC-STARR-seq lymphoblastoid active region 18670 [Gene]
  • LOC130066977:ATAC-STARR-seq lymphoblastoid active region 18671 [Gene]
  • LOC130066982:ATAC-STARR-seq lymphoblastoid active region 18672 [Gene]
  • LOC130066984:ATAC-STARR-seq lymphoblastoid active region 18673 [Gene]
  • LOC130066995:ATAC-STARR-seq lymphoblastoid active region 18678 [Gene]
  • LOC130066997:ATAC-STARR-seq lymphoblastoid active region 18679 [Gene]
  • LOC130066998:ATAC-STARR-seq lymphoblastoid active region 18680 [Gene]
  • LOC130066999:ATAC-STARR-seq lymphoblastoid active region 18681 [Gene]
  • LOC130067000:ATAC-STARR-seq lymphoblastoid active region 18682 [Gene]
  • LOC130067002:ATAC-STARR-seq lymphoblastoid active region 18683 [Gene]
  • LOC130067004:ATAC-STARR-seq lymphoblastoid active region 18684 [Gene]
  • LOC130067005:ATAC-STARR-seq lymphoblastoid active region 18685 [Gene]
  • LOC130067006:ATAC-STARR-seq lymphoblastoid active region 18686 [Gene]
  • LOC130067007:ATAC-STARR-seq lymphoblastoid active region 18687 [Gene]
  • LOC130067009:ATAC-STARR-seq lymphoblastoid active region 18688 [Gene]
  • LOC130067011:ATAC-STARR-seq lymphoblastoid active region 18689 [Gene]
  • LOC130067012:ATAC-STARR-seq lymphoblastoid active region 18690 [Gene]
  • LOC130067013:ATAC-STARR-seq lymphoblastoid active region 18691 [Gene]
  • LOC130067014:ATAC-STARR-seq lymphoblastoid active region 18692 [Gene]
  • LOC130067015:ATAC-STARR-seq lymphoblastoid active region 18693 [Gene]
  • LOC130067017:ATAC-STARR-seq lymphoblastoid active region 18694 [Gene]
  • LOC130067020:ATAC-STARR-seq lymphoblastoid active region 18695 [Gene]
  • LOC130067023:ATAC-STARR-seq lymphoblastoid active region 18698 [Gene]
  • LOC130067029:ATAC-STARR-seq lymphoblastoid active region 18702 [Gene]
  • LOC130067030:ATAC-STARR-seq lymphoblastoid active region 18703 [Gene]
  • LOC130067031:ATAC-STARR-seq lymphoblastoid active region 18704 [Gene]
  • LOC130067034:ATAC-STARR-seq lymphoblastoid active region 18705 [Gene]
  • LOC130067035:ATAC-STARR-seq lymphoblastoid active region 18706 [Gene]
  • LOC130067036:ATAC-STARR-seq lymphoblastoid active region 18707 [Gene]
  • LOC130067037:ATAC-STARR-seq lymphoblastoid active region 18708 [Gene]
  • LOC130067038:ATAC-STARR-seq lymphoblastoid active region 18709 [Gene]
  • LOC130067039:ATAC-STARR-seq lymphoblastoid active region 18710 [Gene]
  • LOC130067041:ATAC-STARR-seq lymphoblastoid active region 18712 [Gene]
  • LOC130067043:ATAC-STARR-seq lymphoblastoid active region 18713 [Gene]
  • LOC130067045:ATAC-STARR-seq lymphoblastoid active region 18714 [Gene]
  • LOC130067046:ATAC-STARR-seq lymphoblastoid active region 18715 [Gene]
  • LOC130067047:ATAC-STARR-seq lymphoblastoid active region 18719 [Gene]
  • LOC130067048:ATAC-STARR-seq lymphoblastoid active region 18720 [Gene]
  • LOC130067050:ATAC-STARR-seq lymphoblastoid active region 18721 [Gene]
  • LOC130067051:ATAC-STARR-seq lymphoblastoid active region 18722 [Gene]
  • LOC130067052:ATAC-STARR-seq lymphoblastoid active region 18723 [Gene]
  • LOC130067057:ATAC-STARR-seq lymphoblastoid active region 18724 [Gene]
  • LOC130067058:ATAC-STARR-seq lymphoblastoid active region 18725 [Gene]
  • LOC130067059:ATAC-STARR-seq lymphoblastoid active region 18726 [Gene]
  • LOC130067060:ATAC-STARR-seq lymphoblastoid active region 18727 [Gene]
  • LOC130067061:ATAC-STARR-seq lymphoblastoid active region 18728 [Gene]
  • LOC130067062:ATAC-STARR-seq lymphoblastoid active region 18729 [Gene]
  • LOC130067063:ATAC-STARR-seq lymphoblastoid active region 18730 [Gene]
  • LOC130067065:ATAC-STARR-seq lymphoblastoid active region 18731 [Gene]
  • LOC130067066:ATAC-STARR-seq lymphoblastoid active region 18732 [Gene]
  • LOC130067067:ATAC-STARR-seq lymphoblastoid active region 18733 [Gene]
  • LOC130067068:ATAC-STARR-seq lymphoblastoid active region 18734 [Gene]
  • LOC130067069:ATAC-STARR-seq lymphoblastoid active region 18735 [Gene]
  • LOC130067070:ATAC-STARR-seq lymphoblastoid active region 18736 [Gene]
  • LOC130067071:ATAC-STARR-seq lymphoblastoid active region 18737 [Gene]
  • LOC130067073:ATAC-STARR-seq lymphoblastoid active region 18738 [Gene]
  • LOC130067074:ATAC-STARR-seq lymphoblastoid active region 18739 [Gene]
  • LOC130067075:ATAC-STARR-seq lymphoblastoid active region 18740 [Gene]
  • LOC130067076:ATAC-STARR-seq lymphoblastoid active region 18741 [Gene]
  • LOC130067078:ATAC-STARR-seq lymphoblastoid active region 18742 [Gene]
  • LOC130067079:ATAC-STARR-seq lymphoblastoid active region 18743 [Gene]
  • LOC130067080:ATAC-STARR-seq lymphoblastoid active region 18744 [Gene]
  • LOC130067083:ATAC-STARR-seq lymphoblastoid active region 18746 [Gene]
  • LOC130067084:ATAC-STARR-seq lymphoblastoid active region 18747 [Gene]
  • LOC130067086:ATAC-STARR-seq lymphoblastoid active region 18748 [Gene]
  • LOC130067087:ATAC-STARR-seq lymphoblastoid active region 18749 [Gene]
  • LOC129929043:ATAC-STARR-seq lymphoblastoid active region 18750 [Gene]
  • LOC129869693:ATAC-STARR-seq lymphoblastoid active region 18751 [Gene]
  • LOC130067092:ATAC-STARR-seq lymphoblastoid active region 18753 [Gene]
  • LOC129929044:ATAC-STARR-seq lymphoblastoid active region 18754 [Gene]
  • LOC129929045:ATAC-STARR-seq lymphoblastoid active region 18755 [Gene]
  • LOC130067094:ATAC-STARR-seq lymphoblastoid active region 18756 [Gene]
  • LOC130067095:ATAC-STARR-seq lymphoblastoid active region 18759 [Gene]
  • LOC130067097:ATAC-STARR-seq lymphoblastoid active region 18761 [Gene]
  • LOC130067098:ATAC-STARR-seq lymphoblastoid active region 18762 [Gene]
  • LOC130067099:ATAC-STARR-seq lymphoblastoid active region 18763 [Gene]
  • LOC130067100:ATAC-STARR-seq lymphoblastoid active region 18764 [Gene]
  • LOC130067101:ATAC-STARR-seq lymphoblastoid active region 18765 [Gene]
  • LOC130067102:ATAC-STARR-seq lymphoblastoid active region 18766 [Gene]
  • LOC130067104:ATAC-STARR-seq lymphoblastoid active region 18767 [Gene]
  • LOC130067105:ATAC-STARR-seq lymphoblastoid active region 18768 [Gene]
  • LOC130066888:ATAC-STARR-seq lymphoblastoid silent region 13426 [Gene]
  • LOC130066889:ATAC-STARR-seq lymphoblastoid silent region 13427 [Gene]
  • LOC130066892:ATAC-STARR-seq lymphoblastoid silent region 13428 [Gene]
  • LOC130066893:ATAC-STARR-seq lymphoblastoid silent region 13429 [Gene]
  • LOC130066894:ATAC-STARR-seq lymphoblastoid silent region 13430 [Gene]
  • LOC130066895:ATAC-STARR-seq lymphoblastoid silent region 13431 [Gene]
  • LOC130066896:ATAC-STARR-seq lymphoblastoid silent region 13432 [Gene]
  • LOC130066898:ATAC-STARR-seq lymphoblastoid silent region 13433 [Gene]
  • LOC130066899:ATAC-STARR-seq lymphoblastoid silent region 13434 [Gene]
  • LOC130066906:ATAC-STARR-seq lymphoblastoid silent region 13436 [Gene]
  • LOC130066909:ATAC-STARR-seq lymphoblastoid silent region 13437 [Gene]
  • LOC130066910:ATAC-STARR-seq lymphoblastoid silent region 13438 [Gene]
  • LOC130066919:ATAC-STARR-seq lymphoblastoid silent region 13439 [Gene]
  • LOC130066920:ATAC-STARR-seq lymphoblastoid silent region 13440 [Gene]
  • LOC130066921:ATAC-STARR-seq lymphoblastoid silent region 13441 [Gene]
  • LOC130066922:ATAC-STARR-seq lymphoblastoid silent region 13442 [Gene]
  • LOC130066932:ATAC-STARR-seq lymphoblastoid silent region 13443 [Gene]
  • LOC130066933:ATAC-STARR-seq lymphoblastoid silent region 13444 [Gene]
  • LOC130066934:ATAC-STARR-seq lymphoblastoid silent region 13446 [Gene]
  • LOC130066937:ATAC-STARR-seq lymphoblastoid silent region 13447 [Gene]
  • LOC130066940:ATAC-STARR-seq lymphoblastoid silent region 13448 [Gene]
  • LOC130066945:ATAC-STARR-seq lymphoblastoid silent region 13449 [Gene]
  • LOC130066948:ATAC-STARR-seq lymphoblastoid silent region 13450 [Gene]
  • LOC130066949:ATAC-STARR-seq lymphoblastoid silent region 13451 [Gene]
  • LOC130066950:ATAC-STARR-seq lymphoblastoid silent region 13452 [Gene]
  • LOC130066951:ATAC-STARR-seq lymphoblastoid silent region 13454 [Gene]
  • LOC130066952:ATAC-STARR-seq lymphoblastoid silent region 13457 [Gene]
  • LOC130066954:ATAC-STARR-seq lymphoblastoid silent region 13459 [Gene]
  • LOC130066955:ATAC-STARR-seq lymphoblastoid silent region 13460 [Gene]
  • LOC130066956:ATAC-STARR-seq lymphoblastoid silent region 13462 [Gene]
  • LOC130066958:ATAC-STARR-seq lymphoblastoid silent region 13463 [Gene]
  • LOC130066960:ATAC-STARR-seq lymphoblastoid silent region 13467 [Gene]
  • LOC130066961:ATAC-STARR-seq lymphoblastoid silent region 13468 [Gene]
  • LOC130066962:ATAC-STARR-seq lymphoblastoid silent region 13469 [Gene]
  • LOC130066965:ATAC-STARR-seq lymphoblastoid silent region 13470 [Gene]
  • LOC130066966:ATAC-STARR-seq lymphoblastoid silent region 13471 [Gene]
  • LOC130066967:ATAC-STARR-seq lymphoblastoid silent region 13472 [Gene]
  • LOC130066972:ATAC-STARR-seq lymphoblastoid silent region 13473 [Gene]
  • LOC130066974:ATAC-STARR-seq lymphoblastoid silent region 13474 [Gene]
  • LOC130066975:ATAC-STARR-seq lymphoblastoid silent region 13475 [Gene]
  • LOC130066976:ATAC-STARR-seq lymphoblastoid silent region 13476 [Gene]
  • LOC130066978:ATAC-STARR-seq lymphoblastoid silent region 13477 [Gene]
  • LOC130066979:ATAC-STARR-seq lymphoblastoid silent region 13478 [Gene]
  • LOC130066980:ATAC-STARR-seq lymphoblastoid silent region 13481 [Gene]
  • LOC130066981:ATAC-STARR-seq lymphoblastoid silent region 13482 [Gene]
  • LOC130066983:ATAC-STARR-seq lymphoblastoid silent region 13484 [Gene]
  • LOC130066985:ATAC-STARR-seq lymphoblastoid silent region 13485 [Gene]
  • LOC130066986:ATAC-STARR-seq lymphoblastoid silent region 13486 [Gene]
  • LOC130066987:ATAC-STARR-seq lymphoblastoid silent region 13487 [Gene]
  • LOC130066988:ATAC-STARR-seq lymphoblastoid silent region 13488 [Gene]
  • LOC130066989:ATAC-STARR-seq lymphoblastoid silent region 13489 [Gene]
  • LOC130066990:ATAC-STARR-seq lymphoblastoid silent region 13490 [Gene]
  • LOC130066991:ATAC-STARR-seq lymphoblastoid silent region 13491 [Gene]
  • LOC130066992:ATAC-STARR-seq lymphoblastoid silent region 13492 [Gene]
  • LOC130066993:ATAC-STARR-seq lymphoblastoid silent region 13493 [Gene]
  • LOC130066994:ATAC-STARR-seq lymphoblastoid silent region 13494 [Gene]
  • LOC130066996:ATAC-STARR-seq lymphoblastoid silent region 13496 [Gene]
  • LOC130067001:ATAC-STARR-seq lymphoblastoid silent region 13497 [Gene]
  • LOC130067003:ATAC-STARR-seq lymphoblastoid silent region 13499 [Gene]
  • LOC130067008:ATAC-STARR-seq lymphoblastoid silent region 13500 [Gene]
  • LOC130067010:ATAC-STARR-seq lymphoblastoid silent region 13502 [Gene]
  • LOC130067016:ATAC-STARR-seq lymphoblastoid silent region 13504 [Gene]
  • LOC130067018:ATAC-STARR-seq lymphoblastoid silent region 13505 [Gene]
  • LOC130067019:ATAC-STARR-seq lymphoblastoid silent region 13506 [Gene]
  • LOC130067021:ATAC-STARR-seq lymphoblastoid silent region 13507 [Gene]
  • LOC130067022:ATAC-STARR-seq lymphoblastoid silent region 13508 [Gene]
  • LOC130067024:ATAC-STARR-seq lymphoblastoid silent region 13509 [Gene]
  • LOC130067025:ATAC-STARR-seq lymphoblastoid silent region 13510 [Gene]
  • LOC130067026:ATAC-STARR-seq lymphoblastoid silent region 13511 [Gene]
  • LOC130067027:ATAC-STARR-seq lymphoblastoid silent region 13512 [Gene]
  • LOC130067028:ATAC-STARR-seq lymphoblastoid silent region 13513 [Gene]
  • LOC130067032:ATAC-STARR-seq lymphoblastoid silent region 13514 [Gene]
  • LOC130067033:ATAC-STARR-seq lymphoblastoid silent region 13515 [Gene]
  • LOC130067040:ATAC-STARR-seq lymphoblastoid silent region 13517 [Gene]
  • LOC130067042:ATAC-STARR-seq lymphoblastoid silent region 13519 [Gene]
  • LOC130067044:ATAC-STARR-seq lymphoblastoid silent region 13520 [Gene]
  • LOC130067049:ATAC-STARR-seq lymphoblastoid silent region 13522 [Gene]
  • LOC130067053:ATAC-STARR-seq lymphoblastoid silent region 13523 [Gene]
  • LOC130067054:ATAC-STARR-seq lymphoblastoid silent region 13524 [Gene]
  • LOC130067055:ATAC-STARR-seq lymphoblastoid silent region 13525 [Gene]
  • LOC130067056:ATAC-STARR-seq lymphoblastoid silent region 13526 [Gene]
  • LOC130067064:ATAC-STARR-seq lymphoblastoid silent region 13527 [Gene]
  • LOC130067072:ATAC-STARR-seq lymphoblastoid silent region 13528 [Gene]
  • LOC130067077:ATAC-STARR-seq lymphoblastoid silent region 13529 [Gene]
  • LOC130067081:ATAC-STARR-seq lymphoblastoid silent region 13530 [Gene]
  • LOC130067082:ATAC-STARR-seq lymphoblastoid silent region 13531 [Gene]
  • LOC130067085:ATAC-STARR-seq lymphoblastoid silent region 13532 [Gene]
  • LOC130067088:ATAC-STARR-seq lymphoblastoid silent region 13533 [Gene]
  • LOC130067089:ATAC-STARR-seq lymphoblastoid silent region 13534 [Gene]
  • LOC130067090:ATAC-STARR-seq lymphoblastoid silent region 13535 [Gene]
  • LOC130067091:ATAC-STARR-seq lymphoblastoid silent region 13536 [Gene]
  • LOC129869694:ATAC-STARR-seq lymphoblastoid silent region 13538 [Gene]
  • LOC130067093:ATAC-STARR-seq lymphoblastoid silent region 13540 [Gene]
  • LOC130067096:ATAC-STARR-seq lymphoblastoid silent region 13543 [Gene]
  • LOC130067103:ATAC-STARR-seq lymphoblastoid silent region 13547 [Gene]
  • ATP6V1E1:ATPase H+ transporting V1 subunit E1 [Gene - OMIM - HGNC]
  • BCL2L13:BCL2 like 13 [Gene - OMIM - HGNC]
  • BCR:BCR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • LOC107963955:BCR-ABL major-breakpoint cluster region [Gene]
  • LOC107963948:BCR-ABL micro-breakpoint cluster region [Gene]
  • LOC107963951:BCR-ABL minor-breakpoint cluster region [Gene]
  • LOC107966121:BCR-ABL p195 breakpoint cluster region [Gene]
  • LOC107963947:BCR-ABL p200 breakpoint cluster region [Gene]
  • LOC107966125:BCR-ABL p225 breakpoint cluster region [Gene]
  • BID:BH3 interacting domain death agonist [Gene - OMIM - HGNC]
  • LOC126863096:BRD4-independent group 4 enhancer GRCh37_chr22:18552873-18554072 [Gene]
  • LOC126863097:BRD4-independent group 4 enhancer GRCh37_chr22:19220751-19221950 [Gene]
  • LOC126863098:BRD4-independent group 4 enhancer GRCh37_chr22:19894389-19895588 [Gene]
  • LOC126863100:BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 [Gene]
  • LOC126863101:BRD4-independent group 4 enhancer GRCh37_chr22:22874253-22875452 [Gene]
  • LOC126863099:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 [Gene]
  • CECR2:CECR2 histone acetyl-lysine reader [Gene - OMIM - HGNC]
  • LOC116309126:CRISPRi-validated cis-regulatory element chr22.250 [Gene]
  • LOC116309127:CRISPRi-validated cis-regulatory element chr22.431 [Gene]
  • CRKL:CRK like proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • DDTL:D-dopachrome tautomerase like [Gene - HGNC]
  • DDT:D-dopachrome tautomerase [Gene - OMIM - HGNC]
  • DGCR8:DGCR8 microprocessor complex subunit [Gene - OMIM - HGNC]
  • TOP3B:DNA topoisomerase III beta [Gene - OMIM - HGNC]
  • DGCR11:DiGeorge syndrome critical region gene 11 [Gene - HGNC]
  • DGCR2:DiGeorge syndrome critical region gene 2 [Gene - OMIM - HGNC]
  • DGCR5:DiGeorge syndrome critical region gene 5 [Gene - OMIM - HGNC]
  • DGCR6L:DiGeorge syndrome critical region gene 6 like [Gene - OMIM - HGNC]
  • DGCR6:DiGeorge syndrome critical region gene 6 [Gene - OMIM - HGNC]
  • GNAZ:G protein subunit alpha z [Gene - OMIM - HGNC]
  • GNB1L:G protein subunit beta 1 like [Gene - OMIM - HGNC]
  • GAB4:GRB2 associated binding protein family member 4 [Gene - HGNC]
  • HDHD5-AS1:HDHD5 antisense RNA 1 [Gene - HGNC]
  • HIC2:HIC ZBTB transcriptional repressor 2 [Gene - OMIM - HGNC]
  • LOC108491837:IGL region enhancer-blocking element 22-2 [Gene]
  • LOC126863094:MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 [Gene]
  • LOC126863095:MED14-independent group 3 enhancer GRCh37_chr22:18286544-18287743 [Gene]
  • MIF-AS1:MIF antisense RNA 1 [Gene - HGNC]
  • LOC129391259:MPRA-validated peak4440 silencer [Gene]
  • LOC129391260:MPRA-validated peak4447 silencer [Gene]
  • LOC129391261:MPRA-validated peak4449 silencer [Gene]
  • LOC129391263:MPRA-validated peak4453 silencer [Gene]
  • LOC129391262:MPRA-validated peak4455 silencer [Gene]
  • LOC129391264:MPRA-validated peak4456 silencer [Gene]
  • LOC129391265:MPRA-validated peak4458 silencer [Gene]
  • LOC129391266:MPRA-validated peak4460 silencer [Gene]
  • LOC129391267:MPRA-validated peak4461 silencer [Gene]
  • LOC129391268:MPRA-validated peak4462 silencer [Gene]
  • LOC129391269:MPRA-validated peak4464 silencer [Gene]
  • LOC129391270:MPRA-validated peak4465 silencer [Gene]
  • LOC129391271:MPRA-validated peak4466 silencer [Gene]
  • LOC129391272:MPRA-validated peak4467 silencer [Gene]
  • LOC129391273:MPRA-validated peak4472 silencer [Gene]
  • LOC132090620:Neanderthal introgressed variant-containing enhancer experimental_62188 [Gene]
  • LOC132090621:Neanderthal introgressed variant-containing enhancer experimental_62204 [Gene]
  • LOC132090622:Neanderthal introgressed variant-containing enhancer experimental_62270 [Gene]
  • LOC132090623:Neanderthal introgressed variant-containing enhancer experimental_62296 [Gene]
  • LOC132090624:Neanderthal introgressed variant-containing enhancer experimental_62410 [Gene]
  • LOC132090625:Neanderthal introgressed variant-containing enhancer experimental_62420 [Gene]
  • LOC132090626:Neanderthal introgressed variant-containing enhancer experimental_62431 [Gene]
  • LOC132090627:Neanderthal introgressed variant-containing enhancer experimental_62558 [Gene]
  • LOC132090918:Neanderthal introgressed variant-containing enhancer experimental_62637 [Gene]
  • LOC132090919:Neanderthal introgressed variant-containing enhancer experimental_62654 [Gene]
  • LOC132090920:Neanderthal introgressed variant-containing enhancer experimental_62657 [Gene]
  • LOC132090628:Neanderthal introgressed variant-containing enhancer experimental_62670 [Gene]
  • LOC132090629:Neanderthal introgressed variant-containing enhancer experimental_62725 [Gene]
  • LOC132090630:Neanderthal introgressed variant-containing enhancer experimental_62734 [Gene]
  • LOC132090631:Neanderthal introgressed variant-containing enhancer experimental_62743 [Gene]
  • LOC132090632:Neanderthal introgressed variant-containing enhancer experimental_62777 [Gene]
  • LOC132090633:Neanderthal introgressed variant-containing enhancer experimental_62783 [Gene]
  • LOC132090634:Neanderthal introgressed variant-containing enhancer experimental_62800 [Gene]
  • LOC132090635:Neanderthal introgressed variant-containing enhancer experimental_62813 [Gene]
  • LOC132090636:Neanderthal introgressed variant-containing enhancer experimental_62823 [Gene]
  • LOC132090637:Neanderthal introgressed variant-containing enhancer experimental_62834 [Gene]
  • LOC132090638:Neanderthal introgressed variant-containing enhancer experimental_62844 [Gene]
  • LOC132090639:Neanderthal introgressed variant-containing enhancer experimental_63007 [Gene]
  • LOC132090640:Neanderthal introgressed variant-containing enhancer experimental_63076 [Gene]
  • LOC132090641:Neanderthal introgressed variant-containing enhancer experimental_63111 [Gene]
  • LOC126863093:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:17413842-17415041 [Gene]
  • PPM1F-AS1:PPM1F antisense RNA 1 [Gene - HGNC]
  • PRAME:PRAME nuclear receptor transcriptional regulator [Gene - OMIM - HGNC]
  • RAB36:RAB36, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC108491832:RAB36-BCR intergenic enhancer-blocking element 22-1 [Gene]
  • RANBP1:RAN binding protein 1 [Gene - OMIM - HGNC]
  • RIMBP3:RIMS binding protein 3 [Gene - OMIM - HGNC]
  • RIMBP3B:RIMS binding protein 3B [Gene - OMIM - HGNC]
  • RIMBP3C:RIMS binding protein 3C [Gene - OMIM - HGNC]
  • SEPT5-GP1BB:SEPT5-GP1BB readthrough [Gene]
  • SPECC1L-ADORA2A:SPECC1L-ADORA2A readthrough (NMD candidate) [Gene - HGNC]
  • SMARCB1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Gene - OMIM - HGNC]
  • LOC121627934:Sharpr-MPRA regulatory region 1007 [Gene]
  • LOC112694770:Sharpr-MPRA regulatory region 10281 [Gene]
  • LOC121627931:Sharpr-MPRA regulatory region 10319 [Gene]
  • LOC112694764:Sharpr-MPRA regulatory region 10527 [Gene]
  • LOC121627930:Sharpr-MPRA regulatory region 10582 [Gene]
  • LOC125424389:Sharpr-MPRA regulatory region 10827 [Gene]
  • LOC125424387:Sharpr-MPRA regulatory region 11316 [Gene]
  • LOC114004361:Sharpr-MPRA regulatory region 11686 [Gene]
  • LOC121627928:Sharpr-MPRA regulatory region 13223 [Gene]
  • LOC125424380:Sharpr-MPRA regulatory region 13635 [Gene]
  • LOC121627929:Sharpr-MPRA regulatory region 13949 [Gene]
  • LOC121627932:Sharpr-MPRA regulatory region 14215 [Gene]
  • LOC125424386:Sharpr-MPRA regulatory region 15144 [Gene]
  • LOC121627933:Sharpr-MPRA regulatory region 15419 [Gene]
  • LOC125424384:Sharpr-MPRA regulatory region 15525 [Gene]
  • LOC125424396:Sharpr-MPRA regulatory region 1554 [Gene]
  • LOC125424390:Sharpr-MPRA regulatory region 1853 [Gene]
  • LOC112694766:Sharpr-MPRA regulatory region 2516 [Gene]
  • LOC125424397:Sharpr-MPRA regulatory region 3008 [Gene]
  • LOC125424398:Sharpr-MPRA regulatory region 3699 [Gene]
  • LOC125424395:Sharpr-MPRA regulatory region 3793 [Gene]
  • LOC125424393:Sharpr-MPRA regulatory region 4313 [Gene]
  • LOC121853036:Sharpr-MPRA regulatory region 5876 [Gene]
  • LOC125424391:Sharpr-MPRA regulatory region 5890 [Gene]
  • LOC125424381:Sharpr-MPRA regulatory region 614 [Gene]
  • LOC125424392:Sharpr-MPRA regulatory region 7390 [Gene]
  • LOC121853035:Sharpr-MPRA regulatory region 7478 [Gene]
  • LOC125424382:Sharpr-MPRA regulatory region 7571 [Gene]
  • LOC112694768:Sharpr-MPRA regulatory region 76 [Gene]
  • LOC125424394:Sharpr-MPRA regulatory region 8041 [Gene]
  • LOC112694767:Sharpr-MPRA regulatory region 818 [Gene]
  • LOC125424383:Sharpr-MPRA regulatory region 8921 [Gene]
  • LOC125424388:Sharpr-MPRA regulatory region 9836 [Gene]
  • LOC111828506:Sharpr-MPRA regulatory regions 962 and 2236 [Gene]
  • TBX1:T-box transcription factor 1 [Gene - OMIM - HGNC]
  • THAP7:THAP domain containing 7 [Gene - OMIM - HGNC]
  • THAP7-AS1:THAP7 antisense RNA 1 [Gene - HGNC]
  • UFD1-AS1:UFD1 antisense RNA 1 [Gene - HGNC]
  • VPREB1:V-set pre-B cell surrogate light chain 1 [Gene - OMIM - HGNC]
  • VPREB3:V-set pre-B cell surrogate light chain 3 [Gene - OMIM - HGNC]
  • LOC110121413:VISTA enhancer hs1620 [Gene]
  • LOC110121474:VISTA enhancer hs2026 [Gene]
  • LOC114827861:VISTA enhancer hs2543 [Gene]
  • LOC110120888:VISTA enhancer hs515 [Gene]
  • YDJC:YdjC chitooligosaccharide deacetylase homolog [Gene - OMIM - HGNC]
  • ADA2:adenosine deaminase 2 [Gene - OMIM - HGNC]
  • AIFM3:apoptosis inducing factor mitochondria associated 3 [Gene - OMIM - HGNC]
  • DRICH1:aspartate rich 1 [Gene - HGNC]
  • CABIN1:calcineurin binding protein 1 [Gene - OMIM - HGNC]
  • CECR3:cat eye syndrome chromosome region, candidate 3 [Gene - HGNC]
  • CECR7:cat eye syndrome chromosome region, candidate 7 [Gene - HGNC]
  • COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]
  • CDC45:cell division cycle 45 [Gene - OMIM - HGNC]
  • C22orf15:chromosome 22 open reading frame 15 [Gene - HGNC]
  • C22orf39:chromosome 22 open reading frame 39 [Gene - HGNC]
  • CLTCL1:clathrin heavy chain like 1 [Gene - OMIM - HGNC]
  • CLDN5:claudin 5 [Gene - OMIM - HGNC]
  • CCDC116:coiled-coil domain containing 116 [Gene - HGNC]
  • CCDC188:coiled-coil domain containing 188 [Gene - HGNC]
  • CHCHD10:coiled-coil-helix-coiled-coil-helix domain containing 10 [Gene - OMIM - HGNC]
  • DERL3:derlin 3 [Gene - OMIM - HGNC]
  • LOC108510655:enhancer-blocking element 22-3 upstream of CCDC188 [Gene]
  • ESS2:ess-2 splicing factor homolog [Gene - OMIM - HGNC]
  • FAM230A:family with sequence similarity 230 member A [Gene - HGNC]
  • FAM230B:family with sequence similarity 230 member B [Gene - HGNC]
  • FAM230D:family with sequence similarity 230 member D [Gene - HGNC]
  • FAM230E:family with sequence similarity 230 member E [Gene - HGNC]
  • FAM230F:family with sequence similarity 230 member F [Gene - HGNC]
  • FAM230G:family with sequence similarity 230 member G [Gene - HGNC]
  • FAM230H:family with sequence similarity 230 member H [Gene - HGNC]
  • FAM230I:family with sequence similarity 230 member I [Gene - HGNC]
  • FAM230J:family with sequence similarity 230 member J [Gene - HGNC]
  • FAM246A:family with sequence similarity 246 member A [Gene - HGNC]
  • FAM246B:family with sequence similarity 246 member B [Gene - HGNC]
  • FAM246C:family with sequence similarity 246 member C (gene/pseudogene) [Gene - HGNC]
  • FAM247A:family with sequence similarity 247 member A [Gene - HGNC]
  • FAM247B:family with sequence similarity 247 member B [Gene - HGNC]
  • GGT2:gamma-glutamyltransferase 2 [Gene - OMIM - HGNC]
  • GGT5:gamma-glutamyltransferase 5 [Gene - OMIM - HGNC]
  • GGTLC2:gamma-glutamyltransferase light chain 2 [Gene - OMIM - HGNC]
  • GGTLC3:gamma-glutamyltransferase light chain family member 3 [Gene - OMIM - HGNC]
  • GSTT2:glutathione S-transferase theta 2 (gene/pseudogene) [Gene - OMIM - HGNC]
  • GSTT2B:glutathione S-transferase theta 2B [Gene - HGNC]
  • GSTT4:glutathione S-transferase theta 4 [Gene - HGNC]
  • GP1BB:glycoprotein Ib platelet subunit beta [Gene - OMIM - HGNC]
  • GSC2:goosecoid homeobox 2 [Gene - OMIM - HGNC]
  • HDHD5:haloacid dehalogenase like hydrolase domain containing 5 [Gene - HGNC]
  • HIRA:histone cell cycle regulator [Gene - OMIM - HGNC]
  • HSERVPRODH:human-specific endogenous retroviral insert PRODH enhancer [Gene]
  • IGLC1:immunoglobulin lambda constant 1 [Gene - OMIM - HGNC]
  • IGLC2:immunoglobulin lambda constant 2 [Gene - HGNC]
  • IGLC3:immunoglobulin lambda constant 3 (Kern-Oz+ marker) [Gene - HGNC]
  • IGLC7:immunoglobulin lambda constant 7 [Gene - HGNC]
  • IGLJ1:immunoglobulin lambda joining 1 [Gene - HGNC]
  • IGLJ2:immunoglobulin lambda joining 2 [Gene - HGNC]
  • IGLJ3:immunoglobulin lambda joining 3 [Gene - HGNC]
  • IGLJ4:immunoglobulin lambda joining 4 (non-functional) [Gene - HGNC]
  • IGLJ5:immunoglobulin lambda joining 5 (non-functional) [Gene - HGNC]
  • IGLJ6:immunoglobulin lambda joining 6 [Gene - HGNC]
  • IGLJ7:immunoglobulin lambda joining 7 [Gene - HGNC]
  • IGLL1:immunoglobulin lambda like polypeptide 1 [Gene - OMIM - HGNC]
  • IGLL5:immunoglobulin lambda like polypeptide 5 [Gene - HGNC]
  • IGL:immunoglobulin lambda locus [Gene - HGNC]
  • IGLV1-36:immunoglobulin lambda variable 1-36 [Gene - HGNC]
  • IGLV1-40:immunoglobulin lambda variable 1-40 [Gene - HGNC]
  • IGLV1-44:immunoglobulin lambda variable 1-44 [Gene - HGNC]
  • IGLV1-47:immunoglobulin lambda variable 1-47 [Gene - HGNC]
  • IGLV1-50:immunoglobulin lambda variable 1-50 (non-functional) [Gene - HGNC]
  • IGLV1-51:immunoglobulin lambda variable 1-51 [Gene - HGNC]
  • IGLV10-54:immunoglobulin lambda variable 10-54 [Gene - HGNC]
  • IGLV11-55:immunoglobulin lambda variable 11-55 (non-functional) [Gene - HGNC]
  • IGLV2-11:immunoglobulin lambda variable 2-11 [Gene - HGNC]
  • IGLV2-14:immunoglobulin lambda variable 2-14 [Gene - HGNC]
  • IGLV2-18:immunoglobulin lambda variable 2-18 [Gene - HGNC]
  • IGLV2-23:immunoglobulin lambda variable 2-23 [Gene - HGNC]
  • IGLV2-33:immunoglobulin lambda variable 2-33 (non-functional) [Gene - HGNC]
  • IGLV2-8:immunoglobulin lambda variable 2-8 [Gene - HGNC]
  • IGLV3-10:immunoglobulin lambda variable 3-10 [Gene - HGNC]
  • IGLV3-12:immunoglobulin lambda variable 3-12 [Gene - HGNC]
  • IGLV3-16:immunoglobulin lambda variable 3-16 [Gene - HGNC]
  • IGLV3-19:immunoglobulin lambda variable 3-19 [Gene - HGNC]
  • IGLV3-1:immunoglobulin lambda variable 3-1 [Gene - HGNC]
  • IGLV3-21:immunoglobulin lambda variable 3-21 [Gene - HGNC]
  • IGLV3-22:immunoglobulin lambda variable 3-22 [Gene - HGNC]
  • IGLV3-25:immunoglobulin lambda variable 3-25 [Gene - HGNC]
  • IGLV3-27:immunoglobulin lambda variable 3-27 [Gene - HGNC]
  • IGLV3-32:immunoglobulin lambda variable 3-32 (non-functional) [Gene - HGNC]
  • IGLV3-9:immunoglobulin lambda variable 3-9 [Gene - HGNC]
  • IGLV4-3:immunoglobulin lambda variable 4-3 [Gene - HGNC]
  • IGLV4-60:immunoglobulin lambda variable 4-60 [Gene - HGNC]
  • IGLV4-69:immunoglobulin lambda variable 4-69 [Gene - HGNC]
  • IGLV5-37:immunoglobulin lambda variable 5-37 [Gene - HGNC]
  • IGLV5-45:immunoglobulin lambda variable 5-45 [Gene - HGNC]
  • IGLV5-48:immunoglobulin lambda variable 5-48 (non-functional) [Gene - HGNC]
  • IGLV5-52:immunoglobulin lambda variable 5-52 [Gene - HGNC]
  • IGLV6-57:immunoglobulin lambda variable 6-57 [Gene - HGNC]
  • IGLV7-43:immunoglobulin lambda variable 7-43 [Gene - HGNC]
  • IGLV7-46:immunoglobulin lambda variable 7-46 [Gene - HGNC]
  • IGLV8-61:immunoglobulin lambda variable 8-61 [Gene - HGNC]
  • IGLV9-49:immunoglobulin lambda variable 9-49 [Gene - HGNC]
  • IL17RA:interleukin 17 receptor A [Gene - OMIM - HGNC]
  • KLHL22:kelch like family member 22 [Gene - OMIM - HGNC]
  • LRRC74B:leucine rich repeat containing 74B [Gene - HGNC]
  • LZTR1:leucine zipper like post translational regulator 1 [Gene - OMIM - HGNC]
  • LINC01311:long intergenic non-protein coding RNA 1311 [Gene - HGNC]
  • LINC01634:long intergenic non-protein coding RNA 1634 [Gene - HGNC]
  • LINC01637:long intergenic non-protein coding RNA 1637 [Gene - HGNC]
  • LINC01651:long intergenic non-protein coding RNA 1651 [Gene - HGNC]
  • LINC01659:long intergenic non-protein coding RNA 1659 [Gene - HGNC]
  • LINC01664:long intergenic non-protein coding RNA 1664 [Gene - HGNC]
  • LINC02556:long intergenic non-protein coding RNA 2556 [Gene - HGNC]
  • LINC02557:long intergenic non-protein coding RNA 2557 [Gene - HGNC]
  • LINC02891:long intergenic non-protein coding RNA 2891 [Gene - HGNC]
  • LINC00528:long intergenic non-protein coding RNA 528 [Gene - HGNC]
  • LINC00895:long intergenic non-protein coding RNA 895 [Gene - HGNC]
  • LINC00896:long intergenic non-protein coding RNA 896 [Gene - HGNC]
  • MIF:macrophage migration inhibitory factor [Gene - OMIM - HGNC]
  • MMP11:matrix metallopeptidase 11 [Gene - OMIM - HGNC]
  • MED15:mediator complex subunit 15 [Gene - OMIM - HGNC]
  • MIR1286:microRNA 1286 [Gene - HGNC]
  • MIR1306:microRNA 1306 [Gene - HGNC]
  • MIR130B:microRNA 130b [Gene - OMIM - HGNC]
  • MIR185:microRNA 185 [Gene - OMIM - HGNC]
  • MIR301B:microRNA 301b [Gene - HGNC]
  • MIR3198-1:microRNA 3198-1 [Gene - HGNC]
  • MIR3618:microRNA 3618 [Gene - HGNC]
  • MIR4761:microRNA 4761 [Gene - HGNC]
  • MIR5571:microRNA 5571 [Gene - HGNC]
  • MIR648:microRNA 648 [Gene - OMIM - HGNC]
  • MIR649:microRNA 649 [Gene - HGNC]
  • MIR650:microRNA 650 [Gene - OMIM - HGNC]
  • MIR6816:microRNA 6816 [Gene - HGNC]
  • MICAL3:microtubule associated monooxygenase, calponin and LIM domain containing 3 [Gene - OMIM - HGNC]
  • MRPL40:mitochondrial ribosomal protein L40 [Gene - OMIM - HGNC]
  • MAPK1:mitogen-activated protein kinase 1 [Gene - OMIM - HGNC]
  • LOC106799832:nonconserved acetylation island sequence 73 enhancer [Gene]
  • LOC106799835:nonconserved acetylation island sequence 74 enhancer [Gene]
  • PPIL2:peptidylprolyl isomerase like 2 [Gene - OMIM - HGNC]
  • PEX26:peroxisomal biogenesis factor 26 [Gene - OMIM - HGNC]
  • PI4KA:phosphatidylinositol 4-kinase alpha [Gene - OMIM - HGNC]
  • PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]
  • PCAT14:prostate cancer associated transcript 14 [Gene - HGNC]
  • PPM1F:protein phosphatase, Mg2+/Mn2+ dependent 1F [Gene - OMIM - HGNC]
  • P2RX6:purinergic receptor P2X 6 [Gene - OMIM - HGNC]
  • RSPH14:radial spoke head 14 homolog [Gene - OMIM - HGNC]
  • RGL4:ral guanine nucleotide dissociation stimulator like 4 [Gene - OMIM - HGNC]
  • RTN4R:reticulon 4 receptor [Gene - OMIM - HGNC]
  • RTL10:retrotransposon Gag like 10 [Gene - OMIM - HGNC]
  • SCARF2:scavenger receptor class F member 2 [Gene - OMIM - HGNC]
  • SEPTIN5:septin 5 [Gene - OMIM - HGNC]
  • SERPIND1:serpin family D member 1 [Gene - OMIM - HGNC]
  • LOC111721702:skeletal muscle cis-regulatory module in CABIN1 intron [Gene]
  • LOC111721701:skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region [Gene]
  • SNORA77B:small nucleolar RNA, H/ACA box 77B [Gene - HGNC]
  • SLC2A11:solute carrier family 2 member 11 [Gene - OMIM - HGNC]
  • SLC25A18:solute carrier family 25 member 18 [Gene - OMIM - HGNC]
  • SLC25A1:solute carrier family 25 member 1 [Gene - OMIM - HGNC]
  • SLC7A4:solute carrier family 7 member 4 [Gene - OMIM - HGNC]
  • SPECC1L:sperm antigen with calponin homology and coiled-coil domains 1 like [Gene - OMIM - HGNC]
  • SDF2L1:stromal cell derived factor 2 like 1 [Gene - OMIM - HGNC]
  • SUSD2:sushi domain containing 2 [Gene - OMIM - HGNC]
  • SNAP29:synaptosome associated protein 29 [Gene - OMIM - HGNC]
  • TRMT2A:tRNA methyltransferase 2 homolog A [Gene - OMIM - HGNC]
  • TSSK2:testis specific serine kinase 2 [Gene - OMIM - HGNC]
  • TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
  • TMEM121B:transmembrane protein 121B [Gene - HGNC]
  • TMEM191B:transmembrane protein 191B [Gene - HGNC]
  • TMEM191C:transmembrane protein 191C [Gene - HGNC]
  • TANGO2:transport and golgi organization 2 homolog [Gene - OMIM - HGNC]
  • TUBA8:tubulin alpha 8 [Gene - OMIM - HGNC]
  • UBE2L3:ubiquitin conjugating enzyme E2 L3 [Gene - OMIM - HGNC]
  • UFD1:ubiquitin recognition factor in ER associated degradation 1 [Gene - OMIM - HGNC]
  • USP18:ubiquitin specific peptidase 18 [Gene - OMIM - HGNC]
  • USP41:ubiquitin specific peptidase 41 [Gene - HGNC]
  • LOC101929372:uncharacterized LOC101929372 [Gene]
  • LOC122455341:uncharacterized LOC122455341 [Gene]
  • LL22NC03-63E9.3:uncharacterized LOC648691 [Gene]
  • YPEL1:yippee like 1 [Gene - OMIM - HGNC]
  • ZDHHC8:zinc finger DHHC-type palmitoyltransferase 8 [Gene - OMIM - HGNC]
  • ZNF280A:zinc finger protein 280A [Gene - HGNC]
  • ZNF280B:zinc finger protein 280B [Gene - HGNC]
  • ZNF70:zinc finger protein 70 [Gene - OMIM - HGNC]
  • ZNF74:zinc finger protein 74 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
22q11.1-11.23
Genomic location:
Preferred name:
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3
HGVS:
  • NC_000022.11:g.(?_16916608)_(24358936_?)dup
  • NC_000022.10:g.(?_17397498)_(24754904_?)dup
  • NC_000022.9:g.(?_15777498)_(23084904_?)dup
Links:
dbVar: nssv578919; dbVar: nsv531794
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
SCV000080459ISCA site 17

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000080459.5

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

Last Updated: May 7, 2024