U.S. flag

An official website of the United States government

GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 2010
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:
RCV000135299.7

Allele description [Variation Report for GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1]

GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1

Genes:
  • AKAP17A:A-kinase anchoring protein 17A [Gene - OMIM - OMIM - HGNC]
  • ACE2-DT:ACE2 divergent transcript [Gene - HGNC]
  • LOC117134593:ACE2 promoter region [Gene]
  • ARSD-AS1:ARSD antisense RNA 1 [Gene - HGNC]
  • ASMTL-AS1:ASMTL antisense RNA 1 [Gene - HGNC]
  • LOC130067892:ATAC-STARR-seq lymphoblastoid active region 29373 [Gene]
  • LOC130067893:ATAC-STARR-seq lymphoblastoid active region 29374 [Gene]
  • LOC130067894:ATAC-STARR-seq lymphoblastoid active region 29375 [Gene]
  • LOC130067895:ATAC-STARR-seq lymphoblastoid active region 29376 [Gene]
  • LOC130067901:ATAC-STARR-seq lymphoblastoid active region 29377 [Gene]
  • LOC130067906:ATAC-STARR-seq lymphoblastoid active region 29379 [Gene]
  • LOC130067907:ATAC-STARR-seq lymphoblastoid active region 29380 [Gene]
  • LOC130067908:ATAC-STARR-seq lymphoblastoid active region 29381 [Gene]
  • LOC130067909:ATAC-STARR-seq lymphoblastoid active region 29382 [Gene]
  • LOC130067910:ATAC-STARR-seq lymphoblastoid active region 29383 [Gene]
  • LOC130067911:ATAC-STARR-seq lymphoblastoid active region 29384 [Gene]
  • LOC130067912:ATAC-STARR-seq lymphoblastoid active region 29385 [Gene]
  • LOC130067913:ATAC-STARR-seq lymphoblastoid active region 29386 [Gene]
  • LOC130067914:ATAC-STARR-seq lymphoblastoid active region 29387 [Gene]
  • LOC130067916:ATAC-STARR-seq lymphoblastoid active region 29389 [Gene]
  • LOC130067917:ATAC-STARR-seq lymphoblastoid active region 29390 [Gene]
  • LOC130067918:ATAC-STARR-seq lymphoblastoid active region 29391 [Gene]
  • LOC130067919:ATAC-STARR-seq lymphoblastoid active region 29393 [Gene]
  • LOC130067920:ATAC-STARR-seq lymphoblastoid active region 29394 [Gene]
  • LOC130067921:ATAC-STARR-seq lymphoblastoid active region 29395 [Gene]
  • LOC130067922:ATAC-STARR-seq lymphoblastoid active region 29396 [Gene]
  • LOC130067923:ATAC-STARR-seq lymphoblastoid active region 29397 [Gene]
  • LOC130067924:ATAC-STARR-seq lymphoblastoid active region 29398 [Gene]
  • LOC130067928:ATAC-STARR-seq lymphoblastoid active region 29402 [Gene]
  • LOC130067929:ATAC-STARR-seq lymphoblastoid active region 29403 [Gene]
  • LOC130067930:ATAC-STARR-seq lymphoblastoid active region 29404 [Gene]
  • LOC130067931:ATAC-STARR-seq lymphoblastoid active region 29405 [Gene]
  • LOC130067932:ATAC-STARR-seq lymphoblastoid active region 29406 [Gene]
  • LOC130067934:ATAC-STARR-seq lymphoblastoid active region 29407 [Gene]
  • LOC130067937:ATAC-STARR-seq lymphoblastoid active region 29409 [Gene]
  • LOC130067938:ATAC-STARR-seq lymphoblastoid active region 29410 [Gene]
  • LOC130067943:ATAC-STARR-seq lymphoblastoid active region 29411 [Gene]
  • LOC130067945:ATAC-STARR-seq lymphoblastoid active region 29412 [Gene]
  • LOC130067946:ATAC-STARR-seq lymphoblastoid active region 29413 [Gene]
  • LOC130067947:ATAC-STARR-seq lymphoblastoid active region 29414 [Gene]
  • LOC130067948:ATAC-STARR-seq lymphoblastoid active region 29420 [Gene]
  • LOC130067949:ATAC-STARR-seq lymphoblastoid active region 29421 [Gene]
  • LOC130067950:ATAC-STARR-seq lymphoblastoid active region 29422 [Gene]
  • LOC130067951:ATAC-STARR-seq lymphoblastoid active region 29423 [Gene]
  • LOC130067952:ATAC-STARR-seq lymphoblastoid active region 29424 [Gene]
  • LOC130067954:ATAC-STARR-seq lymphoblastoid active region 29426 [Gene]
  • LOC130067955:ATAC-STARR-seq lymphoblastoid active region 29427 [Gene]
  • LOC130067956:ATAC-STARR-seq lymphoblastoid active region 29428 [Gene]
  • LOC130067957:ATAC-STARR-seq lymphoblastoid active region 29429 [Gene]
  • LOC130067958:ATAC-STARR-seq lymphoblastoid active region 29430 [Gene]
  • LOC130067960:ATAC-STARR-seq lymphoblastoid active region 29431 [Gene]
  • LOC130067961:ATAC-STARR-seq lymphoblastoid active region 29432 [Gene]
  • LOC130067962:ATAC-STARR-seq lymphoblastoid active region 29433 [Gene]
  • LOC130067963:ATAC-STARR-seq lymphoblastoid active region 29434 [Gene]
  • LOC130067964:ATAC-STARR-seq lymphoblastoid active region 29435 [Gene]
  • LOC130067965:ATAC-STARR-seq lymphoblastoid active region 29436 [Gene]
  • LOC130067966:ATAC-STARR-seq lymphoblastoid active region 29437 [Gene]
  • LOC130067968:ATAC-STARR-seq lymphoblastoid active region 29438 [Gene]
  • LOC130067969:ATAC-STARR-seq lymphoblastoid active region 29439 [Gene]
  • LOC130067970:ATAC-STARR-seq lymphoblastoid active region 29440 [Gene]
  • LOC130067971:ATAC-STARR-seq lymphoblastoid active region 29442 [Gene]
  • LOC130067972:ATAC-STARR-seq lymphoblastoid active region 29444 [Gene]
  • LOC130067976:ATAC-STARR-seq lymphoblastoid active region 29445 [Gene]
  • LOC130067978:ATAC-STARR-seq lymphoblastoid active region 29446 [Gene]
  • LOC130067979:ATAC-STARR-seq lymphoblastoid active region 29447 [Gene]
  • LOC130067982:ATAC-STARR-seq lymphoblastoid active region 29449 [Gene]
  • LOC130067983:ATAC-STARR-seq lymphoblastoid active region 29450 [Gene]
  • LOC130067984:ATAC-STARR-seq lymphoblastoid active region 29451 [Gene]
  • LOC130067986:ATAC-STARR-seq lymphoblastoid active region 29452 [Gene]
  • LOC130067988:ATAC-STARR-seq lymphoblastoid active region 29453 [Gene]
  • LOC130067991:ATAC-STARR-seq lymphoblastoid active region 29454 [Gene]
  • LOC130067992:ATAC-STARR-seq lymphoblastoid active region 29455 [Gene]
  • LOC130067994:ATAC-STARR-seq lymphoblastoid active region 29456 [Gene]
  • LOC130067997:ATAC-STARR-seq lymphoblastoid active region 29457 [Gene]
  • LOC130068000:ATAC-STARR-seq lymphoblastoid active region 29459 [Gene]
  • LOC130068001:ATAC-STARR-seq lymphoblastoid active region 29460 [Gene]
  • LOC130068002:ATAC-STARR-seq lymphoblastoid active region 29461 [Gene]
  • LOC130068003:ATAC-STARR-seq lymphoblastoid active region 29462 [Gene]
  • LOC130068004:ATAC-STARR-seq lymphoblastoid active region 29463 [Gene]
  • LOC130068005:ATAC-STARR-seq lymphoblastoid active region 29464 [Gene]
  • LOC130068006:ATAC-STARR-seq lymphoblastoid active region 29465 [Gene]
  • LOC130068007:ATAC-STARR-seq lymphoblastoid active region 29466 [Gene]
  • LOC130068008:ATAC-STARR-seq lymphoblastoid active region 29467 [Gene]
  • LOC130068011:ATAC-STARR-seq lymphoblastoid active region 29468 [Gene]
  • LOC130068013:ATAC-STARR-seq lymphoblastoid active region 29469 [Gene]
  • LOC130068014:ATAC-STARR-seq lymphoblastoid active region 29470 [Gene]
  • LOC130068015:ATAC-STARR-seq lymphoblastoid active region 29471 [Gene]
  • LOC130068016:ATAC-STARR-seq lymphoblastoid active region 29472 [Gene]
  • LOC130068017:ATAC-STARR-seq lymphoblastoid active region 29473 [Gene]
  • LOC130068018:ATAC-STARR-seq lymphoblastoid active region 29474 [Gene]
  • LOC130068019:ATAC-STARR-seq lymphoblastoid active region 29475 [Gene]
  • LOC130068023:ATAC-STARR-seq lymphoblastoid active region 29476 [Gene]
  • LOC130068027:ATAC-STARR-seq lymphoblastoid active region 29477 [Gene]
  • LOC130068028:ATAC-STARR-seq lymphoblastoid active region 29478 [Gene]
  • LOC130068029:ATAC-STARR-seq lymphoblastoid active region 29479 [Gene]
  • LOC130068030:ATAC-STARR-seq lymphoblastoid active region 29480 [Gene]
  • LOC130068031:ATAC-STARR-seq lymphoblastoid active region 29481 [Gene]
  • LOC130068034:ATAC-STARR-seq lymphoblastoid active region 29482 [Gene]
  • LOC130068035:ATAC-STARR-seq lymphoblastoid active region 29483 [Gene]
  • LOC130068036:ATAC-STARR-seq lymphoblastoid active region 29484 [Gene]
  • LOC130068038:ATAC-STARR-seq lymphoblastoid active region 29485 [Gene]
  • LOC130068039:ATAC-STARR-seq lymphoblastoid active region 29486 [Gene]
  • LOC130068042:ATAC-STARR-seq lymphoblastoid active region 29487 [Gene]
  • LOC130068043:ATAC-STARR-seq lymphoblastoid active region 29488 [Gene]
  • LOC130068046:ATAC-STARR-seq lymphoblastoid active region 29490 [Gene]
  • LOC130068049:ATAC-STARR-seq lymphoblastoid active region 29494 [Gene]
  • LOC130068050:ATAC-STARR-seq lymphoblastoid active region 29495 [Gene]
  • LOC130068055:ATAC-STARR-seq lymphoblastoid active region 29496 [Gene]
  • LOC130068056:ATAC-STARR-seq lymphoblastoid active region 29497 [Gene]
  • LOC130068057:ATAC-STARR-seq lymphoblastoid active region 29498 [Gene]
  • LOC130068058:ATAC-STARR-seq lymphoblastoid active region 29499 [Gene]
  • LOC130068060:ATAC-STARR-seq lymphoblastoid active region 29500 [Gene]
  • LOC130068061:ATAC-STARR-seq lymphoblastoid active region 29501 [Gene]
  • LOC130068062:ATAC-STARR-seq lymphoblastoid active region 29502 [Gene]
  • LOC130068063:ATAC-STARR-seq lymphoblastoid active region 29503 [Gene]
  • LOC130068064:ATAC-STARR-seq lymphoblastoid active region 29504 [Gene]
  • LOC130068067:ATAC-STARR-seq lymphoblastoid active region 29505 [Gene]
  • LOC130068069:ATAC-STARR-seq lymphoblastoid active region 29506 [Gene]
  • LOC130068071:ATAC-STARR-seq lymphoblastoid active region 29507 [Gene]
  • LOC130068074:ATAC-STARR-seq lymphoblastoid active region 29508 [Gene]
  • LOC130068076:ATAC-STARR-seq lymphoblastoid active region 29509 [Gene]
  • LOC130068080:ATAC-STARR-seq lymphoblastoid active region 29510 [Gene]
  • LOC130068081:ATAC-STARR-seq lymphoblastoid active region 29511 [Gene]
  • LOC130068082:ATAC-STARR-seq lymphoblastoid active region 29512 [Gene]
  • LOC130068083:ATAC-STARR-seq lymphoblastoid active region 29513 [Gene]
  • LOC130068085:ATAC-STARR-seq lymphoblastoid active region 29514 [Gene]
  • LOC130068088:ATAC-STARR-seq lymphoblastoid active region 29515 [Gene]
  • LOC130068089:ATAC-STARR-seq lymphoblastoid active region 29516 [Gene]
  • LOC130068090:ATAC-STARR-seq lymphoblastoid active region 29517 [Gene]
  • LOC130067890:ATAC-STARR-seq lymphoblastoid silent region 20638 [Gene]
  • LOC130067891:ATAC-STARR-seq lymphoblastoid silent region 20639 [Gene]
  • LOC130067896:ATAC-STARR-seq lymphoblastoid silent region 20640 [Gene]
  • LOC130067897:ATAC-STARR-seq lymphoblastoid silent region 20641 [Gene]
  • LOC130067898:ATAC-STARR-seq lymphoblastoid silent region 20642 [Gene]
  • LOC130067899:ATAC-STARR-seq lymphoblastoid silent region 20643 [Gene]
  • LOC130067900:ATAC-STARR-seq lymphoblastoid silent region 20644 [Gene]
  • LOC130067902:ATAC-STARR-seq lymphoblastoid silent region 20645 [Gene]
  • LOC130067903:ATAC-STARR-seq lymphoblastoid silent region 20646 [Gene]
  • LOC130067904:ATAC-STARR-seq lymphoblastoid silent region 20647 [Gene]
  • LOC130067905:ATAC-STARR-seq lymphoblastoid silent region 20648 [Gene]
  • LOC130067915:ATAC-STARR-seq lymphoblastoid silent region 20649 [Gene]
  • LOC130067925:ATAC-STARR-seq lymphoblastoid silent region 20650 [Gene]
  • LOC130067926:ATAC-STARR-seq lymphoblastoid silent region 20651 [Gene]
  • LOC130067927:ATAC-STARR-seq lymphoblastoid silent region 20652 [Gene]
  • LOC130067933:ATAC-STARR-seq lymphoblastoid silent region 20655 [Gene]
  • LOC130067935:ATAC-STARR-seq lymphoblastoid silent region 20656 [Gene]
  • LOC130067936:ATAC-STARR-seq lymphoblastoid silent region 20657 [Gene]
  • LOC130067939:ATAC-STARR-seq lymphoblastoid silent region 20658 [Gene]
  • LOC130067940:ATAC-STARR-seq lymphoblastoid silent region 20659 [Gene]
  • LOC130067941:ATAC-STARR-seq lymphoblastoid silent region 20660 [Gene]
  • LOC130067942:ATAC-STARR-seq lymphoblastoid silent region 20661 [Gene]
  • LOC130067944:ATAC-STARR-seq lymphoblastoid silent region 20663 [Gene]
  • LOC130067953:ATAC-STARR-seq lymphoblastoid silent region 20664 [Gene]
  • LOC130067959:ATAC-STARR-seq lymphoblastoid silent region 20665 [Gene]
  • LOC130067967:ATAC-STARR-seq lymphoblastoid silent region 20666 [Gene]
  • LOC130067973:ATAC-STARR-seq lymphoblastoid silent region 20667 [Gene]
  • LOC130067974:ATAC-STARR-seq lymphoblastoid silent region 20668 [Gene]
  • LOC130067975:ATAC-STARR-seq lymphoblastoid silent region 20669 [Gene]
  • LOC130067977:ATAC-STARR-seq lymphoblastoid silent region 20671 [Gene]
  • LOC130067980:ATAC-STARR-seq lymphoblastoid silent region 20672 [Gene]
  • LOC130067981:ATAC-STARR-seq lymphoblastoid silent region 20673 [Gene]
  • LOC130067985:ATAC-STARR-seq lymphoblastoid silent region 20674 [Gene]
  • LOC130067987:ATAC-STARR-seq lymphoblastoid silent region 20677 [Gene]
  • LOC130067989:ATAC-STARR-seq lymphoblastoid silent region 20678 [Gene]
  • LOC130067990:ATAC-STARR-seq lymphoblastoid silent region 20679 [Gene]
  • LOC130067993:ATAC-STARR-seq lymphoblastoid silent region 20680 [Gene]
  • LOC130067995:ATAC-STARR-seq lymphoblastoid silent region 20681 [Gene]
  • LOC130067996:ATAC-STARR-seq lymphoblastoid silent region 20682 [Gene]
  • LOC130067998:ATAC-STARR-seq lymphoblastoid silent region 20684 [Gene]
  • LOC130067999:ATAC-STARR-seq lymphoblastoid silent region 20685 [Gene]
  • LOC130068009:ATAC-STARR-seq lymphoblastoid silent region 20687 [Gene]
  • LOC130068010:ATAC-STARR-seq lymphoblastoid silent region 20688 [Gene]
  • LOC130068012:ATAC-STARR-seq lymphoblastoid silent region 20689 [Gene]
  • LOC130068020:ATAC-STARR-seq lymphoblastoid silent region 20690 [Gene]
  • LOC130068021:ATAC-STARR-seq lymphoblastoid silent region 20691 [Gene]
  • LOC130068022:ATAC-STARR-seq lymphoblastoid silent region 20692 [Gene]
  • LOC130068024:ATAC-STARR-seq lymphoblastoid silent region 20693 [Gene]
  • LOC130068025:ATAC-STARR-seq lymphoblastoid silent region 20694 [Gene]
  • LOC130068026:ATAC-STARR-seq lymphoblastoid silent region 20695 [Gene]
  • LOC130068032:ATAC-STARR-seq lymphoblastoid silent region 20696 [Gene]
  • LOC130068033:ATAC-STARR-seq lymphoblastoid silent region 20697 [Gene]
  • LOC130068037:ATAC-STARR-seq lymphoblastoid silent region 20698 [Gene]
  • LOC130068040:ATAC-STARR-seq lymphoblastoid silent region 20700 [Gene]
  • LOC130068041:ATAC-STARR-seq lymphoblastoid silent region 20701 [Gene]
  • LOC130068044:ATAC-STARR-seq lymphoblastoid silent region 20702 [Gene]
  • LOC130068045:ATAC-STARR-seq lymphoblastoid silent region 20704 [Gene]
  • LOC130068047:ATAC-STARR-seq lymphoblastoid silent region 20705 [Gene]
  • LOC130068048:ATAC-STARR-seq lymphoblastoid silent region 20707 [Gene]
  • LOC130068051:ATAC-STARR-seq lymphoblastoid silent region 20708 [Gene]
  • LOC130068052:ATAC-STARR-seq lymphoblastoid silent region 20709 [Gene]
  • LOC130068053:ATAC-STARR-seq lymphoblastoid silent region 20710 [Gene]
  • LOC130068054:ATAC-STARR-seq lymphoblastoid silent region 20713 [Gene]
  • LOC130068059:ATAC-STARR-seq lymphoblastoid silent region 20717 [Gene]
  • LOC130068065:ATAC-STARR-seq lymphoblastoid silent region 20718 [Gene]
  • LOC130068066:ATAC-STARR-seq lymphoblastoid silent region 20719 [Gene]
  • LOC130068068:ATAC-STARR-seq lymphoblastoid silent region 20720 [Gene]
  • LOC130068070:ATAC-STARR-seq lymphoblastoid silent region 20721 [Gene]
  • LOC130068072:ATAC-STARR-seq lymphoblastoid silent region 20722 [Gene]
  • LOC130068073:ATAC-STARR-seq lymphoblastoid silent region 20723 [Gene]
  • LOC130068075:ATAC-STARR-seq lymphoblastoid silent region 20724 [Gene]
  • LOC130068077:ATAC-STARR-seq lymphoblastoid silent region 20725 [Gene]
  • LOC130068078:ATAC-STARR-seq lymphoblastoid silent region 20726 [Gene]
  • LOC130068079:ATAC-STARR-seq lymphoblastoid silent region 20727 [Gene]
  • LOC130068084:ATAC-STARR-seq lymphoblastoid silent region 20728 [Gene]
  • LOC130068086:ATAC-STARR-seq lymphoblastoid silent region 20729 [Gene]
  • LOC130068087:ATAC-STARR-seq lymphoblastoid silent region 20730 [Gene]
  • BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
  • BEND2:BEN domain containing 2 [Gene - HGNC]
  • BMX:BMX non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126863207:BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178 [Gene]
  • LOC126863209:BRD4-independent group 4 enhancer GRCh37_chrX:12597924-12599123 [Gene]
  • LOC126863213:BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 [Gene]
  • LOC113875013:BRD4-independent group 4 enhancer GRCh37_chrX:14691306-14692505 [Gene]
  • LOC126863214:BRD4-independent group 4 enhancer GRCh37_chrX:15617708-15618907 [Gene]
  • LOC126863222:BRD4-independent group 4 enhancer GRCh37_chrX:21704726-21705925 [Gene]
  • LOC126863228:BRD4-independent group 4 enhancer GRCh37_chrX:23800811-23802010 [Gene]
  • LOC126863190:BRD4-independent group 4 enhancer GRCh37_chrX:3445471-3446670 [Gene]
  • LOC126863191:BRD4-independent group 4 enhancer GRCh37_chrX:3650386-3651585 [Gene]
  • LOC126863194:BRD4-independent group 4 enhancer GRCh37_chrX:4872887-4874086 [Gene]
  • LOC126863196:BRD4-independent group 4 enhancer GRCh37_chrX:5224281-5225480 [Gene]
  • LOC126863198:BRD4-independent group 4 enhancer GRCh37_chrX:7889540-7890739 [Gene]
  • LOC126863204:BRD4-independent group 4 enhancer GRCh37_chrX:9374111-9375310 [Gene]
  • LOC126863206:BRD4-independent group 4 enhancer GRCh37_chrX:9907403-9908602 [Gene]
  • CA5BP1-CA5B:CA5BP1-CA5B readthrough [Gene]
  • CD99:CD99 molecule (Xg blood group) [Gene - OMIM - OMIM - HGNC]
  • LOC126863212:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 [Gene]
  • LOC126863216:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:16203427-16204626 [Gene]
  • LOC126863219:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:20504565-20505764 [Gene]
  • LOC126863221:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:21007714-21008913 [Gene]
  • LOC126863223:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22383141-22384340 [Gene]
  • LOC126863224:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22417737-22418936 [Gene]
  • LOC126863225:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22450970-22452169 [Gene]
  • LOC126863227:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:22968225-22969424 [Gene]
  • LOC126863230:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:25900047-25901246 [Gene]
  • LOC126863189:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:2722445-2723644 [Gene]
  • LOC126863192:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:4463784-4464983 [Gene]
  • LOC126863201:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:8725279-8726478 [Gene]
  • LOC126863202:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:9098527-9099726 [Gene]
  • CNE-2:CNE-2 enhancer upstream of SHOX [Gene]
  • CNE-3:CNE-3 enhancer upstream of SHOX [Gene]
  • CNE-5:CNE-5 enhancer upstream of SHOX [Gene]
  • CNE4:CNE4 enhancer downstream of SHOX [Gene]
  • CNE5:CNE5 enhancer downstream of SHOX [Gene]
  • CNE6:CNE6 enhancer downstream of SHOX [Gene]
  • CNE7:CNE7 enhancer downstream of SHOX [Gene]
  • CNE8:CNE8 enhancer downstream of SHOX [Gene]
  • CNE9:CNE9 enhancer downstream of SHOX [Gene]
  • LOC116309138:CRISPRi-validated cis-regulatory element chrX.229 [Gene]
  • LOC116309139:CRISPRi-validated cis-regulatory element chrX.231 [Gene]
  • LOC116309145:CRISPRi-validated cis-regulatory element chrX.232 [Gene]
  • LOC116309146:CRISPRi-validated cis-regulatory element chrX.233 [Gene]
  • LOC116309142:CRISPRi-validated cis-regulatory element chrX.234 [Gene]
  • LOC116309143:CRISPRi-validated cis-regulatory element chrX.239 [Gene]
  • LOC116309144:CRISPRi-validated cis-regulatory element chrX.240 [Gene]
  • LOC116309147:CRISPRi-validated cis-regulatory element chrX.345 [Gene]
  • LOC116309148:CRISPRi-validated cis-regulatory element chrX.477 [Gene]
  • LOC116309150:CRISPRi-validated cis-regulatory element chrX.505 [Gene]
  • CTPS2:CTP synthase 2 [Gene - OMIM - HGNC]
  • CBLL2:Cbl proto-oncogene like 2 [Gene - HGNC]
  • DCAF8L1:DDB1 and CUL4 associated factor 8 like 1 [Gene - HGNC]
  • DCAF8L2:DDB1 and CUL4 associated factor 8 like 2 [Gene - HGNC]
  • DDX53:DEAD-box helicase 53 [Gene - OMIM - HGNC]
  • POLA1:DNA polymerase alpha 1, catalytic subunit [Gene - OMIM - HGNC]
  • EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
  • EIF1AX-AS1:EIF1AX antisense RNA 1 [Gene - HGNC]
  • FANCB:FA complementation group B [Gene - OMIM - HGNC]
  • FRMPD4:FERM and PDZ domain containing 4 [Gene - OMIM - HGNC]
  • FRMPD4-AS1:FRMPD4 antisense RNA 1 [Gene - HGNC]
  • GPR143:G protein-coupled receptor 143 [Gene - OMIM - HGNC]
  • GK-AS1:GK antisense RNA 1 [Gene - HGNC]
  • GTPBP6:GTP binding protein 6 (putative) [Gene - OMIM - HGNC]
  • HCCS-DT:HCCS divergent transcript [Gene - HGNC]
  • MAGEB10:MAGE family member B10 [Gene - OMIM - HGNC]
  • MAGEB16:MAGE family member B16 [Gene - OMIM - HGNC]
  • MAGEB17:MAGE family member B17 [Gene - OMIM - HGNC]
  • MAGEB18:MAGE family member B18 [Gene - OMIM - HGNC]
  • MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
  • MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
  • MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
  • MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
  • MAGEB5:MAGE family member B5 [Gene - OMIM - HGNC]
  • MAGEB6:MAGE family member B6 [Gene - OMIM - HGNC]
  • MAGEB6B:MAGE family member B6B [Gene - HGNC]
  • MAGEB17-AS1:MAGEB17 antisense RNA 1 [Gene - HGNC]
  • MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
  • LOC126863210:MED14-independent group 3 enhancer GRCh37_chrX:12837926-12839125 [Gene]
  • LOC126863217:MED14-independent group 3 enhancer GRCh37_chrX:17767905-17769104 [Gene]
  • LOC126863218:MED14-independent group 3 enhancer GRCh37_chrX:19643274-19644473 [Gene]
  • LOC126863231:MED14-independent group 3 enhancer GRCh37_chrX:26177596-26178795 [Gene]
  • LOC126863232:MED14-independent group 3 enhancer GRCh37_chrX:26391578-26392777 [Gene]
  • LOC126863233:MED14-independent group 3 enhancer GRCh37_chrX:27480372-27481571 [Gene]
  • LOC126863237:MED14-independent group 3 enhancer GRCh37_chrX:36449855-36451054 [Gene]
  • LOC126863193:MED14-independent group 3 enhancer GRCh37_chrX:4628486-4629685 [Gene]
  • LOC126863197:MED14-independent group 3 enhancer GRCh37_chrX:7290864-7292063 [Gene]
  • LOC126863203:MED14-independent group 3 enhancer GRCh37_chrX:9320474-9321673 [Gene]
  • LOC111242786:MID1 promoter D [Gene]
  • LOC129391292:MPRA-validated peak7351 silencer [Gene]
  • LOC129391293:MPRA-validated peak7356 silencer [Gene]
  • LOC129391294:MPRA-validated peak7357 silencer [Gene]
  • LOC129391295:MPRA-validated peak7360 silencer [Gene]
  • LOC129391296:MPRA-validated peak7373 silencer [Gene]
  • LOC129391297:MPRA-validated peak7374 silencer [Gene]
  • MSL3:MSL complex subunit 3 [Gene - OMIM - HGNC]
  • LOC111365193:NFE2L2 motif-containing MPRA enhancer 58 [Gene]
  • NHS:NHS actin remodeling regulator [Gene - OMIM - HGNC]
  • NHS-AS1:NHS antisense RNA 1 [Gene - HGNC]
  • LOC108410393:NR0B1 5' regulatory region [Gene]
  • OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
  • P2RY8:P2Y receptor family member 8 [Gene - OMIM - HGNC]
  • LOC126863208:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:10602208-10603407 [Gene]
  • LOC126863211:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 [Gene]
  • LOC126863215:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:16178523-16179722 [Gene]
  • LOC126863220:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:20532054-20533253 [Gene]
  • LOC126863226:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:22544316-22545515 [Gene]
  • LOC126863229:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:23825194-23826393 [Gene]
  • LOC126863234:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:28609224-28610423 [Gene]
  • LOC126863235:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:29679893-29681092 [Gene]
  • LOC126863236:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 [Gene]
  • LOC116309149:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 [Gene]
  • LOC126863195:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:4969484-4970683 [Gene]
  • LOC126863199:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:8313181-8314380 [Gene]
  • LOC126863200:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:8462508-8463707 [Gene]
  • LOC126863205:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:9629664-9630863 [Gene]
  • PCYT1B-AS1:PCYT1B antisense RNA 1 [Gene - HGNC]
  • PHEX-AS1:PHEX antisense RNA 1 [Gene - HGNC]
  • PHKA2-AS1:PHKA2 antisense RNA 1 [Gene - HGNC]
  • PIR-FIGF:PIR-FIGF readthrough [Gene]
  • PPEF1-AS1:PPEF1 antisense RNA 1 [Gene - HGNC]
  • PRKX-AS1:PRKX antisense RNA 1 [Gene - HGNC]
  • PTCHD1-AS:PTCHD1 antisense RNA (head to head) [Gene - HGNC]
  • RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
  • REPS2:RALBP1 associated Eps domain containing 2 [Gene - OMIM - HGNC]
  • RBBP7:RB binding protein 7, chromatin remodeling factor [Gene - OMIM - HGNC]
  • ARHGAP6:Rho GTPase activating protein 6 [Gene - OMIM - HGNC]
  • S100G:S100 calcium binding protein G [Gene - OMIM - HGNC]
  • LOC106029241:S232-VCX2 recombination region [Gene]
  • LOC106029240:S232-VCX3A recombination region [Gene]
  • SAT1-DT:SAT1 divergent transcript [Gene - HGNC]
  • SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
  • LOC108251802:SHOX downstream enhancer, distal recombination region [Gene]
  • LOC108251803:SHOX downstream enhancer, proximal recombination region [Gene]
  • SHOX:SHOX homeobox [Gene - OMIM - OMIM - HGNC]
  • SUPT20HL1:SUPT20H like 1 [Gene - HGNC]
  • SUPT20HL2:SUPT20H like 2 [Gene - HGNC]
  • SCML1:Scm polycomb group protein like 1 [Gene - OMIM - HGNC]
  • SCML2:Scm polycomb group protein like 2 [Gene - OMIM - HGNC]
  • LOC125446274:Sharpr-MPRA regulatory region 100 [Gene]
  • LOC125446269:Sharpr-MPRA regulatory region 11092 [Gene]
  • LOC125446277:Sharpr-MPRA regulatory region 11226 [Gene]
  • LOC113875017:Sharpr-MPRA regulatory region 11823 [Gene]
  • LOC113875019:Sharpr-MPRA regulatory region 11934 [Gene]
  • LOC121853051:Sharpr-MPRA regulatory region 12383 [Gene]
  • LOC125446271:Sharpr-MPRA regulatory region 12683 [Gene]
  • LOC121627964:Sharpr-MPRA regulatory region 13056 [Gene]
  • LOC113875018:Sharpr-MPRA regulatory region 13349 [Gene]
  • LOC113845783:Sharpr-MPRA regulatory region 13392 [Gene]
  • LOC114022706:Sharpr-MPRA regulatory region 13558 [Gene]
  • LOC125446265:Sharpr-MPRA regulatory region 13686 [Gene]
  • LOC121627960:Sharpr-MPRA regulatory region 14330 [Gene]
  • LOC125446272:Sharpr-MPRA regulatory region 14622 [Gene]
  • LOC121627962:Sharpr-MPRA regulatory region 15471 [Gene]
  • LOC121853052:Sharpr-MPRA regulatory region 2020 [Gene]
  • LOC113845784:Sharpr-MPRA regulatory region 2065 [Gene]
  • LOC125446268:Sharpr-MPRA regulatory region 2097 [Gene]
  • LOC121627957:Sharpr-MPRA regulatory region 2843 [Gene]
  • LOC125446275:Sharpr-MPRA regulatory region 3899 [Gene]
  • LOC113875006:Sharpr-MPRA regulatory region 4636 [Gene]
  • LOC125446273:Sharpr-MPRA regulatory region 4999 [Gene]
  • LOC113875037:Sharpr-MPRA regulatory region 5189 [Gene]
  • LOC125446270:Sharpr-MPRA regulatory region 5514 [Gene]
  • LOC113845789:Sharpr-MPRA regulatory region 5588 [Gene]
  • LOC121627963:Sharpr-MPRA regulatory region 5644 [Gene]
  • LOC121853050:Sharpr-MPRA regulatory region 6238 [Gene]
  • LOC113875040:Sharpr-MPRA regulatory region 7028 [Gene]
  • LOC121627958:Sharpr-MPRA regulatory region 7563 [Gene]
  • LOC121853049:Sharpr-MPRA regulatory region 9039 [Gene]
  • LOC125446276:Sharpr-MPRA regulatory region 9198 [Gene]
  • LOC121627961:Sharpr-MPRA regulatory region 9466 [Gene]
  • LOC125446266:Sharpr-MPRA regulatory region 9499 [Gene]
  • TAB3-AS1:TAB3 antisense RNA 1 [Gene - HGNC]
  • TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
  • TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
  • TLR8-AS1:TLR8 antisense RNA 1 [Gene - HGNC]
  • LOC110120592:VISTA enhancer hs118 [Gene]
  • LOC110120593:VISTA enhancer hs119 [Gene]
  • LOC110120594:VISTA enhancer hs121 [Gene]
  • LOC110120595:VISTA enhancer hs122 [Gene]
  • LOC110120596:VISTA enhancer hs123 [Gene]
  • LOC110120597:VISTA enhancer hs145 [Gene]
  • WWC3:WWC family member 3 [Gene - OMIM - HGNC]
  • XG:Xg glycoprotein (Xg blood group) [Gene - OMIM - HGNC]
  • YY2:YY2 transcription factor [Gene - OMIM - HGNC]
  • ZFX-AS1:ZFX antisense RNA 1 [Gene - HGNC]
  • ASMTL:acetylserotonin O-methyltransferase like [Gene - OMIM - OMIM - HGNC]
  • ASMT:acetylserotonin O-methyltransferase [Gene - OMIM - OMIM - HGNC]
  • ACOT9:acyl-CoA thioesterase 9 [Gene - OMIM - HGNC]
  • AP1S2:adaptor related protein complex 1 subunit sigma 2 [Gene - OMIM - HGNC]
  • ADGRG2:adhesion G protein-coupled receptor G2 [Gene - OMIM - HGNC]
  • AMELX:amelogenin X-linked [Gene - OMIM - HGNC]
  • ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
  • ASB11:ankyrin repeat and SOCS box containing 11 [Gene - OMIM - HGNC]
  • ASB9:ankyrin repeat and SOCS box containing 9 [Gene - OMIM - HGNC]
  • ANOS1:anosmin 1 [Gene - OMIM - HGNC]
  • APOO:apolipoprotein O [Gene - OMIM - HGNC]
  • LOC109610631:aristaless related homeobox polyalanine expansion region [Gene]
  • ARX:aristaless related homeobox [Gene - OMIM - HGNC]
  • ARSD:arylsulfatase D [Gene - OMIM - HGNC]
  • ARSF:arylsulfatase F [Gene - OMIM - HGNC]
  • ARSL:arylsulfatase L [Gene - OMIM - HGNC]
  • ARSH:arylsulfatase family member H [Gene - OMIM - HGNC]
  • ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
  • CA5B:carbonic anhydrase 5B [Gene - OMIM - HGNC]
  • CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]
  • CXorf58:chromosome X open reading frame 58 [Gene - HGNC]
  • CFAP47:cilia and flagella associated protein 47 [Gene - OMIM - HGNC]
  • CLDN34:claudin 34 [Gene - HGNC]
  • CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
  • CSF2RA:colony stimulating factor 2 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • CNKSR2:connector enhancer of kinase suppressor of Ras 2 [Gene - OMIM - HGNC]
  • CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
  • CRLF2:cytokine receptor like factor 2 [Gene - OMIM - OMIM - HGNC]
  • LOC118966792:dACE2 interferon-inducible promoter region [Gene]
  • DHRSX:dehydrogenase/reductase X-linked [Gene - OMIM - HGNC]
  • DMD:dystrophin [Gene - OMIM - HGNC]
  • EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
  • EIF2S3:eukaryotic translation initiation factor 2 subunit gamma [Gene - OMIM - HGNC]
  • FAM47A:family with sequence similarity 47 member A [Gene - HGNC]
  • FAM47B:family with sequence similarity 47 member B [Gene - HGNC]
  • FAM47C:family with sequence similarity 47 member C [Gene - OMIM - HGNC]
  • FAM9A:family with sequence similarity 9 member A [Gene - OMIM - HGNC]
  • FAM9B:family with sequence similarity 9 member B [Gene - OMIM - HGNC]
  • FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
  • FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
  • GRPR:gastrin releasing peptide receptor [Gene - OMIM - HGNC]
  • GEMIN8:gem nuclear organelle associated protein 8 [Gene - OMIM - HGNC]
  • GK:glycerol kinase [Gene - OMIM - HGNC]
  • GLRA2:glycine receptor alpha 2 [Gene - OMIM - HGNC]
  • GYG2:glycogenin 2 [Gene - OMIM - HGNC]
  • GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
  • HCCS:holocytochrome c synthase [Gene - OMIM - HGNC]
  • INE2:inactivation escape 2 [Gene - OMIM - HGNC]
  • IL1RAPL1:interleukin 1 receptor accessory protein like 1 [Gene - OMIM - HGNC]
  • IL3RA:interleukin 3 receptor subunit alpha [Gene - OMIM - OMIM - HGNC]
  • KLHL15:kelch like family member 15 [Gene - OMIM - HGNC]
  • KLHL34:kelch like family member 34 [Gene - HGNC]
  • LINC00102:long intergenic non-protein coding RNA 102 [Gene - HGNC]
  • LINC00106:long intergenic non-protein coding RNA 106 [Gene - HGNC]
  • LINC01203:long intergenic non-protein coding RNA 1203 [Gene - HGNC]
  • LINC01456:long intergenic non-protein coding RNA 1456 [Gene - HGNC]
  • LINC01546:long intergenic non-protein coding RNA 1546 [Gene - HGNC]
  • LINC02154:long intergenic non-protein coding RNA 2154 [Gene - HGNC]
  • LINC00685:long intergenic non-protein coding RNA 685 [Gene - HGNC]
  • MXRA5:matrix remodeling associated 5 [Gene - OMIM - HGNC]
  • LOC107652445:meiotic recombination hotspot SHOX [Gene]
  • MBTPS2:membrane bound transcription factor peptidase, site 2 [Gene - OMIM - HGNC]
  • MIR23C:microRNA 23c [Gene - HGNC]
  • MIR3690:microRNA 3690 [Gene - HGNC]
  • MIR3915:microRNA 3915 [Gene - HGNC]
  • MIR4666B:microRNA 4666b [Gene - HGNC]
  • MIR4767:microRNA 4767 [Gene - HGNC]
  • MIR4768:microRNA 4768 [Gene - HGNC]
  • MIR4770:microRNA 4770 [Gene - HGNC]
  • MIR548AM:microRNA 548am [Gene - HGNC]
  • MIR548AX:microRNA 548ax [Gene - HGNC]
  • MIR548F5:microRNA 548f-5 [Gene - HGNC]
  • MIR6086:microRNA 6086 [Gene - HGNC]
  • MIR6089:microRNA 6089 [Gene - HGNC]
  • MIR6134:microRNA 6134 [Gene - HGNC]
  • MIR651:microRNA 651 [Gene - HGNC]
  • MID1:midline 1 [Gene - OMIM - HGNC]
  • MAP3K15:mitogen-activated protein kinase kinase kinase 15 [Gene - OMIM - HGNC]
  • MOSPD2:motile sperm domain containing 2 [Gene - OMIM - HGNC]
  • NLGN4X:neuroligin 4 X-linked [Gene - OMIM - HGNC]
  • LOC106799844:nonconserved acetylation island sequence 104 enhancer [Gene]
  • NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
  • PNPLA4:patatin like phospholipase domain containing 4 [Gene - OMIM - HGNC]
  • PTCHD1:patched domain containing 1 [Gene - OMIM - HGNC]
  • PRDX4:peroxiredoxin 4 [Gene - OMIM - HGNC]
  • PCYT1B:phosphate cytidylyltransferase 1B, choline [Gene - OMIM - HGNC]
  • PHEX:phosphate regulating endopeptidase X-linked [Gene - OMIM - HGNC]
  • PIGA:phosphatidylinositol glycan anchor biosynthesis class A [Gene - OMIM - HGNC]
  • PLCXD1:phosphatidylinositol specific phospholipase C X domain containing 1 [Gene - OMIM - HGNC]
  • PRPS2:phosphoribosyl pyrophosphate synthetase 2 [Gene - OMIM - HGNC]
  • PHKA2:phosphorylase kinase regulatory subunit alpha 2 [Gene - OMIM - HGNC]
  • PIR:pirin [Gene - OMIM - HGNC]
  • PRKX:protein kinase cAMP-dependent X-linked catalytic subunit [Gene - OMIM - HGNC]
  • PPP2R3B:protein phosphatase 2 regulatory subunit B''beta [Gene - OMIM - HGNC]
  • PPP4R3C:protein phosphatase 4 regulatory subunit 3C [Gene - HGNC]
  • PPEF1:protein phosphatase with EF-hand domain 1 [Gene - OMIM - HGNC]
  • PUDP:pseudouridine 5'-phosphatase [Gene - OMIM - HGNC]
  • PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
  • PDK3:pyruvate dehydrogenase kinase 3 [Gene - OMIM - HGNC]
  • RAI2:retinoic acid induced 2 [Gene - OMIM - HGNC]
  • RS1:retinoschisin 1 [Gene - OMIM - HGNC]
  • RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
  • SHROOM2:shroom family member 2 [Gene - OMIM - HGNC]
  • SCARNA23:small Cajal body-specific RNA 23 [Gene - HGNC]
  • SCARNA9L:small Cajal body-specific RNA 9 like [Gene - HGNC]
  • SMPX:small muscle protein X-linked [Gene - OMIM - HGNC]
  • SNORA48B:small nucleolar RNA, H/ACA box 48B [Gene - HGNC]
  • SLC25A6:solute carrier family 25 member 6 [Gene - OMIM - OMIM - HGNC]
  • SAT1:spermidine/spermine N1-acetyltransferase 1 [Gene - OMIM - HGNC]
  • SMS:spermine synthase [Gene - OMIM - HGNC]
  • STS:steroid sulfatase [Gene - OMIM - HGNC]
  • SYAP1:synapse associated protein 1 [Gene - HGNC]
  • TRI-GAT1-1:tRNA-Ile (anticodon GAT) 1-1 [Gene - HGNC]
  • TRI-GAT1-2:tRNA-Ile (anticodon GAT) 1-2 [Gene - HGNC]
  • TRI-GAT1-3:tRNA-Ile (anticodon GAT) 1-3 [Gene - HGNC]
  • TRV-TAC1-2:tRNA-Val (anticodon TAC) 1-2 [Gene - HGNC]
  • TXLNG:taxilin gamma [Gene - OMIM - HGNC]
  • TMSB4X:thymosin beta 4 X-linked [Gene - OMIM - HGNC]
  • TLR7:toll like receptor 7 [Gene - OMIM - HGNC]
  • TLR8:toll like receptor 8 [Gene - OMIM - HGNC]
  • TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
  • TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
  • TBL1X:transducin beta like 1 X-linked [Gene - OMIM - HGNC]
  • TMEM47:transmembrane protein 47 [Gene - OMIM - HGNC]
  • LOC101928201:uncharacterized LOC101928201 [Gene]
  • LOC101928389:uncharacterized LOC101928389 [Gene]
  • LOC101928627:uncharacterized LOC101928627 [Gene]
  • LOC105373133:uncharacterized LOC105373133 [Gene]
  • LOC105373150:uncharacterized LOC105373150 [Gene]
  • LOC105373156:uncharacterized LOC105373156 [Gene]
  • LOC107985657:uncharacterized LOC107985657 [Gene]
  • LOC127933115:uncharacterized LOC127933115 [Gene]
  • LOC729609:uncharacterized LOC729609 [Gene]
  • GS1-600G8.3:unknown transcript [Gene]
  • VCX2:variable charge X-linked 2 [Gene - OMIM - HGNC]
  • VCX3A:variable charge X-linked 3A [Gene - OMIM - HGNC]
  • VCX3B:variable charge X-linked 3B [Gene - OMIM - HGNC]
  • VCX:variable charge X-linked [Gene - OMIM - HGNC]
  • VEGFD:vascular endothelial growth factor D [Gene - OMIM - HGNC]
  • ZBED1:zinc finger BED-type containing 1 [Gene - OMIM - HGNC]
  • ZRSR2:zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 [Gene - OMIM - HGNC]
  • ZFX:zinc finger protein X-linked [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp22.33-21.1
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1
HGVS:
  • NC_000023.11:g.(?_233335)_(37292980_?)del
  • NC_000023.10:g.(?_150002)_(37152232_?)del
  • NC_000023.9:g.(?_90002)_(37037153_?)del
Links:
dbVar: nssv585184; dbVar: nsv498472
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000174979ISCA Site 6

See additional submitters

no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		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

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 6, SCV000174979.3

#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