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GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 10, 2014
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:
RCV000142286.6

Allele description [Variation Report for GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3]

GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3

Genes:
  • 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]
  • LOC129935039:ATAC-STARR-seq lymphoblastoid active region 16723 [Gene]
  • LOC129935040:ATAC-STARR-seq lymphoblastoid active region 16724 [Gene]
  • LOC129935041:ATAC-STARR-seq lymphoblastoid active region 16725 [Gene]
  • LOC129935044:ATAC-STARR-seq lymphoblastoid active region 16726 [Gene]
  • LOC129935045:ATAC-STARR-seq lymphoblastoid active region 16727 [Gene]
  • LOC129935046:ATAC-STARR-seq lymphoblastoid active region 16728 [Gene]
  • LOC129935047:ATAC-STARR-seq lymphoblastoid active region 16729 [Gene]
  • LOC129935049:ATAC-STARR-seq lymphoblastoid active region 16730 [Gene]
  • LOC129935056:ATAC-STARR-seq lymphoblastoid active region 16731 [Gene]
  • LOC129935057:ATAC-STARR-seq lymphoblastoid active region 16732 [Gene]
  • LOC129935062:ATAC-STARR-seq lymphoblastoid active region 16733 [Gene]
  • LOC129935063:ATAC-STARR-seq lymphoblastoid active region 16734 [Gene]
  • LOC129935064:ATAC-STARR-seq lymphoblastoid active region 16735 [Gene]
  • LOC129935066:ATAC-STARR-seq lymphoblastoid active region 16736 [Gene]
  • LOC129935067:ATAC-STARR-seq lymphoblastoid active region 16737 [Gene]
  • LOC129935068:ATAC-STARR-seq lymphoblastoid active region 16738 [Gene]
  • LOC129935069:ATAC-STARR-seq lymphoblastoid active region 16741 [Gene]
  • LOC129935070:ATAC-STARR-seq lymphoblastoid active region 16742 [Gene]
  • LOC129935079:ATAC-STARR-seq lymphoblastoid active region 16743 [Gene]
  • LOC129935084:ATAC-STARR-seq lymphoblastoid active region 16744 [Gene]
  • LOC129935089:ATAC-STARR-seq lymphoblastoid active region 16745 [Gene]
  • LOC129935090:ATAC-STARR-seq lymphoblastoid active region 16746 [Gene]
  • LOC129935091:ATAC-STARR-seq lymphoblastoid active region 16747 [Gene]
  • LOC129935092:ATAC-STARR-seq lymphoblastoid active region 16748 [Gene]
  • LOC129935093:ATAC-STARR-seq lymphoblastoid active region 16749 [Gene]
  • LOC129935094:ATAC-STARR-seq lymphoblastoid active region 16750 [Gene]
  • LOC129935096:ATAC-STARR-seq lymphoblastoid active region 16751 [Gene]
  • LOC129935098:ATAC-STARR-seq lymphoblastoid active region 16752 [Gene]
  • LOC129935099:ATAC-STARR-seq lymphoblastoid active region 16753 [Gene]
  • LOC129935100:ATAC-STARR-seq lymphoblastoid active region 16754 [Gene]
  • LOC129935101:ATAC-STARR-seq lymphoblastoid active region 16755 [Gene]
  • LOC129935102:ATAC-STARR-seq lymphoblastoid active region 16756 [Gene]
  • LOC129935103:ATAC-STARR-seq lymphoblastoid active region 16758 [Gene]
  • LOC129935106:ATAC-STARR-seq lymphoblastoid active region 16759 [Gene]
  • LOC129935107:ATAC-STARR-seq lymphoblastoid active region 16760 [Gene]
  • LOC129935109:ATAC-STARR-seq lymphoblastoid active region 16761 [Gene]
  • LOC129935113:ATAC-STARR-seq lymphoblastoid active region 16763 [Gene]
  • LOC129935117:ATAC-STARR-seq lymphoblastoid active region 16764 [Gene]
  • LOC129935118:ATAC-STARR-seq lymphoblastoid active region 16765 [Gene]
  • LOC129935119:ATAC-STARR-seq lymphoblastoid active region 16767 [Gene]
  • LOC129935121:ATAC-STARR-seq lymphoblastoid active region 16768 [Gene]
  • LOC129935124:ATAC-STARR-seq lymphoblastoid active region 16769 [Gene]
  • LOC129935128:ATAC-STARR-seq lymphoblastoid active region 16770 [Gene]
  • LOC129935132:ATAC-STARR-seq lymphoblastoid active region 16772 [Gene]
  • LOC129935134:ATAC-STARR-seq lymphoblastoid active region 16774 [Gene]
  • LOC129935135:ATAC-STARR-seq lymphoblastoid active region 16775 [Gene]
  • LOC129935137:ATAC-STARR-seq lymphoblastoid active region 16776 [Gene]
  • LOC129935138:ATAC-STARR-seq lymphoblastoid active region 16777 [Gene]
  • LOC129935139:ATAC-STARR-seq lymphoblastoid active region 16778 [Gene]
  • LOC129935140:ATAC-STARR-seq lymphoblastoid active region 16779 [Gene]
  • LOC129935141:ATAC-STARR-seq lymphoblastoid active region 16780 [Gene]
  • LOC129935142:ATAC-STARR-seq lymphoblastoid active region 16781 [Gene]
  • LOC129935143:ATAC-STARR-seq lymphoblastoid active region 16782 [Gene]
  • LOC129935144:ATAC-STARR-seq lymphoblastoid active region 16783 [Gene]
  • LOC129935145:ATAC-STARR-seq lymphoblastoid active region 16784 [Gene]
  • LOC129935146:ATAC-STARR-seq lymphoblastoid active region 16785 [Gene]
  • LOC129935149:ATAC-STARR-seq lymphoblastoid active region 16786 [Gene]
  • LOC129935154:ATAC-STARR-seq lymphoblastoid active region 16787 [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]
  • LOC129935042:ATAC-STARR-seq lymphoblastoid silent region 12065 [Gene]
  • LOC129935043:ATAC-STARR-seq lymphoblastoid silent region 12066 [Gene]
  • LOC129935048:ATAC-STARR-seq lymphoblastoid silent region 12070 [Gene]
  • LOC129935050:ATAC-STARR-seq lymphoblastoid silent region 12071 [Gene]
  • LOC129935051:ATAC-STARR-seq lymphoblastoid silent region 12072 [Gene]
  • LOC129935052:ATAC-STARR-seq lymphoblastoid silent region 12073 [Gene]
  • LOC129935053:ATAC-STARR-seq lymphoblastoid silent region 12074 [Gene]
  • LOC129935054:ATAC-STARR-seq lymphoblastoid silent region 12075 [Gene]
  • LOC129935055:ATAC-STARR-seq lymphoblastoid silent region 12076 [Gene]
  • LOC129935058:ATAC-STARR-seq lymphoblastoid silent region 12077 [Gene]
  • LOC129935059:ATAC-STARR-seq lymphoblastoid silent region 12078 [Gene]
  • LOC129935060:ATAC-STARR-seq lymphoblastoid silent region 12079 [Gene]
  • LOC129935061:ATAC-STARR-seq lymphoblastoid silent region 12080 [Gene]
  • LOC129935065:ATAC-STARR-seq lymphoblastoid silent region 12081 [Gene]
  • LOC129935071:ATAC-STARR-seq lymphoblastoid silent region 12082 [Gene]
  • LOC129935072:ATAC-STARR-seq lymphoblastoid silent region 12083 [Gene]
  • LOC129935073:ATAC-STARR-seq lymphoblastoid silent region 12084 [Gene]
  • LOC129935074:ATAC-STARR-seq lymphoblastoid silent region 12085 [Gene]
  • LOC129935075:ATAC-STARR-seq lymphoblastoid silent region 12086 [Gene]
  • LOC129935076:ATAC-STARR-seq lymphoblastoid silent region 12087 [Gene]
  • LOC129935077:ATAC-STARR-seq lymphoblastoid silent region 12088 [Gene]
  • LOC129935078:ATAC-STARR-seq lymphoblastoid silent region 12089 [Gene]
  • LOC129935080:ATAC-STARR-seq lymphoblastoid silent region 12090 [Gene]
  • LOC129935081:ATAC-STARR-seq lymphoblastoid silent region 12091 [Gene]
  • LOC129935082:ATAC-STARR-seq lymphoblastoid silent region 12092 [Gene]
  • LOC129935083:ATAC-STARR-seq lymphoblastoid silent region 12093 [Gene]
  • LOC129935085:ATAC-STARR-seq lymphoblastoid silent region 12094 [Gene]
  • LOC129935086:ATAC-STARR-seq lymphoblastoid silent region 12095 [Gene]
  • LOC129935087:ATAC-STARR-seq lymphoblastoid silent region 12096 [Gene]
  • LOC129935088:ATAC-STARR-seq lymphoblastoid silent region 12099 [Gene]
  • LOC129935095:ATAC-STARR-seq lymphoblastoid silent region 12100 [Gene]
  • LOC129935097:ATAC-STARR-seq lymphoblastoid silent region 12101 [Gene]
  • LOC129935104:ATAC-STARR-seq lymphoblastoid silent region 12103 [Gene]
  • LOC129935105:ATAC-STARR-seq lymphoblastoid silent region 12104 [Gene]
  • LOC129935108:ATAC-STARR-seq lymphoblastoid silent region 12106 [Gene]
  • LOC129935110:ATAC-STARR-seq lymphoblastoid silent region 12108 [Gene]
  • LOC129935111:ATAC-STARR-seq lymphoblastoid silent region 12109 [Gene]
  • LOC129935112:ATAC-STARR-seq lymphoblastoid silent region 12110 [Gene]
  • LOC129935114:ATAC-STARR-seq lymphoblastoid silent region 12111 [Gene]
  • LOC129935115:ATAC-STARR-seq lymphoblastoid silent region 12112 [Gene]
  • LOC129935116:ATAC-STARR-seq lymphoblastoid silent region 12113 [Gene]
  • LOC129935120:ATAC-STARR-seq lymphoblastoid silent region 12115 [Gene]
  • LOC129935122:ATAC-STARR-seq lymphoblastoid silent region 12116 [Gene]
  • LOC129935123:ATAC-STARR-seq lymphoblastoid silent region 12117 [Gene]
  • LOC129935125:ATAC-STARR-seq lymphoblastoid silent region 12120 [Gene]
  • LOC129935126:ATAC-STARR-seq lymphoblastoid silent region 12121 [Gene]
  • LOC129935127:ATAC-STARR-seq lymphoblastoid silent region 12122 [Gene]
  • LOC129935129:ATAC-STARR-seq lymphoblastoid silent region 12123 [Gene]
  • LOC129935130:ATAC-STARR-seq lymphoblastoid silent region 12124 [Gene]
  • LOC129935131:ATAC-STARR-seq lymphoblastoid silent region 12125 [Gene]
  • LOC129935133:ATAC-STARR-seq lymphoblastoid silent region 12126 [Gene]
  • LOC129935136:ATAC-STARR-seq lymphoblastoid silent region 12127 [Gene]
  • LOC129935147:ATAC-STARR-seq lymphoblastoid silent region 12128 [Gene]
  • LOC129935148:ATAC-STARR-seq lymphoblastoid silent region 12129 [Gene]
  • LOC129935150:ATAC-STARR-seq lymphoblastoid silent region 12130 [Gene]
  • LOC129935151:ATAC-STARR-seq lymphoblastoid silent region 12131 [Gene]
  • LOC129935152:ATAC-STARR-seq lymphoblastoid silent region 12132 [Gene]
  • LOC129935153:ATAC-STARR-seq lymphoblastoid silent region 12133 [Gene]
  • LOC129935155:ATAC-STARR-seq lymphoblastoid silent region 12134 [Gene]
  • ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
  • ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
  • B3GALT1-AS1:B3GALT1 antisense RNA 1 [Gene - HGNC]
  • BAZ2B-AS1:BAZ2B antisense RNA 1 [Gene - HGNC]
  • LOC126806387:BRD4-independent group 4 enhancer GRCh37_chr2:158590437-158591636 [Gene]
  • LOC112806057:BRD4-independent group 4 enhancer GRCh37_chr2:165370742-165371941 [Gene]
  • LOC126806396:BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 [Gene]
  • LOC126806405:BRD4-independent group 4 enhancer GRCh37_chr2:173295051-173296250 [Gene]
  • BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]
  • CCDC148-AS1:CCDC148 antisense RNA 1 [Gene - HGNC]
  • CD302:CD302 molecule [Gene - OMIM - HGNC]
  • 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]
  • LOC126806398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:168801351-168802550 [Gene]
  • LOC126806400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:169791870-169793069 [Gene]
  • LOC126806406:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:173607526-173608725 [Gene]
  • LOC126806411:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:176342216-176343415 [Gene]
  • LOC126806412:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:176651769-176652968 [Gene]
  • CERS6-AS1:CERS6 antisense RNA 1 [Gene - HGNC]
  • LOC115945201:CRISPRi-validated cis-regulatory element chr2.5458 [Gene]
  • DCAF17:DDB1 and CUL4 associated factor 17 [Gene - OMIM - HGNC]
  • DLX2-DT:DLX2 divergent transcript [Gene - HGNC]
  • LOC117152611:DPP4 -4.2 kb glucocorticoid response element [Gene]
  • DPP4-DT:DPP4 divergent transcript [Gene - HGNC]
  • LOC117152610:DPP4 promoter region [Gene]
  • ERICH2-DT:ERICH2 divergent transcript [Gene - HGNC]
  • FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]
  • GPR155:G protein-coupled receptor 155 [Gene - HGNC]
  • GALNT13-AS1:GALNT13 antisense RNA 1 [Gene - HGNC]
  • LOC108175345:GCG promoter region [Gene]
  • GPR155-DT:GPR155 divergent transcript [Gene - HGNC]
  • LOC111413009:HNF1 motif-containing MPRA enhancer 131/132 [Gene]
  • LOC111556122:HNF1 motif-containing MPRA enhancer 37 [Gene]
  • ITGA6-AS1:ITGA6 antisense RNA 1 [Gene - HGNC]
  • LOC108281133:ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer [Gene]
  • KCNH7-AS1:KCNH7 antisense RNA 1 [Gene - HGNC]
  • LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]
  • LY75-CD302:LY75-CD302 readthrough [Gene - HGNC]
  • MAP3K20-AS1:MAP3K20 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC126806394:MED14-independent group 3 enhancer GRCh37_chr2:164627636-164628835 [Gene]
  • LOC126806395:MED14-independent group 3 enhancer GRCh37_chr2:164809702-164810901 [Gene]
  • LOC126806401:MED14-independent group 3 enhancer GRCh37_chr2:170809766-170810965 [Gene]
  • LOC126806402:MED14-independent group 3 enhancer GRCh37_chr2:171077503-171078702 [Gene]
  • LOC126806407:MED14-independent group 3 enhancer GRCh37_chr2:174164665-174165864 [Gene]
  • LOC126806409:MED14-independent group 3 enhancer GRCh37_chr2:174916218-174917417 [Gene]
  • LOC126806410:MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 [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]
  • LOC129388938:MPRA-validated peak3912 silencer [Gene]
  • LOC129388939:MPRA-validated peak3915 silencer [Gene]
  • LOC129388940:MPRA-validated peak3917 silencer [Gene]
  • LOC129388941:MPRA-validated peak3919 silencer [Gene]
  • LOC129388943:MPRA-validated peak3923 silencer [Gene]
  • LOC129388944:MPRA-validated peak3925 silencer [Gene]
  • LOC129388945:MPRA-validated peak3928 silencer [Gene]
  • LOC129388946:MPRA-validated peak3933 silencer [Gene]
  • LOC129388947:MPRA-validated peak3936 silencer [Gene]
  • LOC129388948:MPRA-validated peak3937 silencer [Gene]
  • LOC129388949:MPRA-validated peak3938 silencer [Gene]
  • LOC129388950:MPRA-validated peak3940 silencer [Gene]
  • LOC129388951:MPRA-validated peak3942 silencer [Gene]
  • LOC129388952:MPRA-validated peak3944 silencer [Gene]
  • LOC129388953:MPRA-validated peak3945 silencer [Gene]
  • MYO3B-AS1:MYO3B antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC132088792:Neanderthal introgressed variant-containing enhancer experimental_55575 [Gene]
  • LOC132088793:Neanderthal introgressed variant-containing enhancer experimental_55577 [Gene]
  • LOC132088794:Neanderthal introgressed variant-containing enhancer experimental_55930 [Gene]
  • LOC132088795:Neanderthal introgressed variant-containing enhancer experimental_55951 [Gene]
  • LOC132088796:Neanderthal introgressed variant-containing enhancer experimental_56026 [Gene]
  • LOC132088797:Neanderthal introgressed variant-containing enhancer experimental_56072 [Gene]
  • LOC132090686:Neanderthal introgressed variant-containing enhancer experimental_56189 [Gene]
  • LOC132088798:Neanderthal introgressed variant-containing enhancer experimental_56221 [Gene]
  • LOC132090687:Neanderthal introgressed variant-containing enhancer experimental_56231 [Gene]
  • LOC132088799:Neanderthal introgressed variant-containing enhancer experimental_56260 [Gene]
  • LOC132088800:Neanderthal introgressed variant-containing enhancer experimental_56279 [Gene]
  • LOC132088801:Neanderthal introgressed variant-containing enhancer experimental_56293 [Gene]
  • LOC132088802:Neanderthal introgressed variant-containing enhancer experimental_56377 [Gene]
  • LOC132088803:Neanderthal introgressed variant-containing enhancer experimental_56397 [Gene]
  • OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC126806397:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:167996802-167998001 [Gene]
  • LOC126806399:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:169067330-169068529 [Gene]
  • LOC126806403:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:172100813-172102012 [Gene]
  • LOC126806404:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:173117619-173118818 [Gene]
  • LOC126806408:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:174888471-174889670 [Gene]
  • PDK1-AS1:PDK1 and ITGA6 antisense RNA 1 [Gene - HGNC]
  • PHOSPHO2-KLHL23:PHOSPHO2-KLHL23 readthrough [Gene]
  • PKP4-AS1:PKP4 antisense RNA 1 [Gene - HGNC]
  • PSMD14-DT:PSMD14 divergent transcript [Gene - HGNC]
  • RAPGEF4-AS1:RAPGEF4 antisense RNA 1 [Gene - HGNC]
  • RBMS1:RNA binding motif single stranded interacting protein 1 [Gene - OMIM - HGNC]
  • RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
  • SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
  • SPC25:SPC25 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
  • LOC122847305:Sharpr-MPRA regulatory region 10348 [Gene]
  • LOC121725106:Sharpr-MPRA regulatory region 10417 [Gene]
  • LOC122847307:Sharpr-MPRA regulatory region 11367 [Gene]
  • LOC122847298:Sharpr-MPRA regulatory region 11721 [Gene]
  • LOC112806058:Sharpr-MPRA regulatory region 12446 [Gene]
  • LOC122861240:Sharpr-MPRA regulatory region 126 [Gene]
  • LOC122847312:Sharpr-MPRA regulatory region 12880 [Gene]
  • LOC122847308:Sharpr-MPRA regulatory region 13497 [Gene]
  • LOC120977013:Sharpr-MPRA regulatory region 13511 [Gene]
  • LOC121725105:Sharpr-MPRA regulatory region 13798 [Gene]
  • LOC122861244:Sharpr-MPRA regulatory region 13906 [Gene]
  • LOC122861242:Sharpr-MPRA regulatory region 13988 [Gene]
  • LOC120977011:Sharpr-MPRA regulatory region 14439 [Gene]
  • LOC122847301:Sharpr-MPRA regulatory region 14614 [Gene]
  • LOC122861243:Sharpr-MPRA regulatory region 14969 [Gene]
  • LOC122847318:Sharpr-MPRA regulatory region 14975 [Gene]
  • LOC122847314:Sharpr-MPRA regulatory region 14 [Gene]
  • LOC122847309:Sharpr-MPRA regulatory region 15114 [Gene]
  • LOC122847311:Sharpr-MPRA regulatory region 15130 [Gene]
  • LOC122847310:Sharpr-MPRA regulatory region 15259 [Gene]
  • LOC122847299:Sharpr-MPRA regulatory region 156 [Gene]
  • LOC122847302:Sharpr-MPRA regulatory region 15701 [Gene]
  • LOC122861246:Sharpr-MPRA regulatory region 1697 [Gene]
  • LOC122847313:Sharpr-MPRA regulatory region 1892 [Gene]
  • LOC122847304:Sharpr-MPRA regulatory region 3711 [Gene]
  • LOC122847317:Sharpr-MPRA regulatory region 4152 [Gene]
  • LOC112806059:Sharpr-MPRA regulatory region 4236 [Gene]
  • LOC121725107:Sharpr-MPRA regulatory region 4310 [Gene]
  • LOC120977015:Sharpr-MPRA regulatory region 431 [Gene]
  • LOC120977014:Sharpr-MPRA regulatory region 4346 [Gene]
  • LOC120977012:Sharpr-MPRA regulatory region 4770 [Gene]
  • LOC120977010:Sharpr-MPRA regulatory region 6347 [Gene]
  • LOC112806056:Sharpr-MPRA regulatory region 6450 [Gene]
  • LOC122847320:Sharpr-MPRA regulatory region 7042 [Gene]
  • LOC122847315:Sharpr-MPRA regulatory region 707 [Gene]
  • LOC122861241:Sharpr-MPRA regulatory region 8106 [Gene]
  • LOC112806060:Sharpr-MPRA regulatory region 8299 [Gene]
  • LOC122847316:Sharpr-MPRA regulatory region 8774 [Gene]
  • LOC122847300:Sharpr-MPRA regulatory region 8835 [Gene]
  • LOC122847306:Sharpr-MPRA regulatory region 9339 [Gene]
  • LOC122861245:Sharpr-MPRA regulatory region 9658 [Gene]
  • LOC122847303:Sharpr-MPRA regulatory region 9806 [Gene]
  • LOC122847319:Sharpr-MPRA regulatory region 994 [Gene]
  • SP3:Sp3 transcription factor [Gene - OMIM - HGNC]
  • SP5:Sp5 transcription factor [Gene - OMIM - HGNC]
  • SP9:Sp9 transcription factor [Gene - HGNC]
  • TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
  • TANK-AS1:TANK antisense RNA 1 [Gene - HGNC]
  • TANK:TRAF family member associated NFKB activator [Gene - OMIM - HGNC]
  • TTC21B-AS1:TTC21B antisense RNA 1 [Gene - HGNC]
  • LOC110121120:VISTA enhancer hs1477 [Gene]
  • LOC110120601:VISTA enhancer hs170 [Gene]
  • LOC110121216:VISTA enhancer hs1867 [Gene]
  • LOC110121242:VISTA enhancer hs2027 [Gene]
  • LOC114827830:VISTA enhancer hs2337 [Gene]
  • LOC110120624:VISTA enhancer hs242 [Gene]
  • LOC110120625:VISTA enhancer hs243 [Gene]
  • LOC110120626:VISTA enhancer hs244 [Gene]
  • LOC110120673:VISTA enhancer hs411 [Gene]
  • LOC110120674:VISTA enhancer hs413 [Gene]
  • LOC110120675:VISTA enhancer hs415 [Gene]
  • LOC110120676:VISTA enhancer hs416 [Gene]
  • LOC110120677:VISTA enhancer hs421 [Gene]
  • LOC110120678:VISTA enhancer hs422 [Gene]
  • LOC110120701:VISTA enhancer hs553 [Gene]
  • LOC110120708:VISTA enhancer hs573 [Gene]
  • LOC110120710:VISTA enhancer hs580 [Gene]
  • LOC110120725:VISTA enhancer hs640 [Gene]
  • LOC110120730:VISTA enhancer hs646 [Gene]
  • LOC110120736:VISTA enhancer hs662 [Gene]
  • LOC110120790:VISTA enhancer hs860 [Gene]
  • LOC110120809:VISTA enhancer hs953 [Gene]
  • WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
  • WDSUB1:WD repeat, sterile alpha motif and U-box domain containing 1 [Gene - HGNC]
  • XIRP2-AS1:XIRP2 antisense RNA 1 [Gene - HGNC]
  • ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
  • ACVR1:activin A receptor type 1 [Gene - OMIM - HGNC]
  • ACVR1C:activin A receptor type 1C [Gene - OMIM - HGNC]
  • B3GALT1:beta-1,3-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • BAZ2B:bromodomain adjacent to zinc finger domain 2B [Gene - OMIM - HGNC]
  • CDCA7:cell division cycle associated 7 [Gene - OMIM - HGNC]
  • CERS6:ceramide synthase 6 [Gene - OMIM - HGNC]
  • CHN1:chimerin 1 [Gene - OMIM - HGNC]
  • CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
  • CFAP210:cilia and flagella associated protein 210 [Gene - HGNC]
  • CCDC148:coiled-coil domain containing 148 [Gene - HGNC]
  • COBLL1:cordon-bleu WH2 repeat protein like 1 [Gene - OMIM - HGNC]
  • CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
  • CSRNP3:cysteine and serine rich nuclear protein 3 [Gene - OMIM - HGNC]
  • CYBRD1:cytochrome b reductase 1 [Gene - OMIM - HGNC]
  • CYTIP:cytohesin 1 interacting protein [Gene - OMIM - HGNC]
  • DAPL1:death associated protein like 1 [Gene - HGNC]
  • DHRS9:dehydrogenase/reductase 9 [Gene - OMIM - HGNC]
  • DPP4:dipeptidyl peptidase 4 [Gene - OMIM - HGNC]
  • DLX1:distal-less homeobox 1 [Gene - OMIM - HGNC]
  • DLX2:distal-less homeobox 2 [Gene - OMIM - HGNC]
  • DYNC1I2:dynein cytoplasmic 1 intermediate chain 2 [Gene - OMIM - HGNC]
  • ERMN:ermin [Gene - OMIM - HGNC]
  • FAP:fibroblast activation protein alpha [Gene - OMIM - HGNC]
  • FIGN:fidgetin, microtubule severing factor [Gene - OMIM - HGNC]
  • GCG:glucagon [Gene - OMIM - HGNC]
  • G6PC2:glucose-6-phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
  • GAD1:glutamate decarboxylase 1 [Gene - OMIM - HGNC]
  • ERICH2:glutamate rich 2 [Gene - HGNC]
  • GPD2:glycerol-3-phosphate dehydrogenase 2 [Gene - OMIM - HGNC]
  • GORASP2:golgi reassembly stacking protein 2 [Gene - OMIM - HGNC]
  • GCA:grancalcin [Gene - OMIM - HGNC]
  • GRB14:growth factor receptor bound protein 14 [Gene - OMIM - HGNC]
  • HAT1:histone acetyltransferase 1 [Gene - OMIM - HGNC]
  • ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]
  • ITGB6:integrin subunit beta 6 [Gene - OMIM - HGNC]
  • IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
  • KLHL23:kelch like family member 23 [Gene - HGNC]
  • KLHL41:kelch like family member 41 [Gene - OMIM - HGNC]
  • LINC01124:long intergenic non-protein coding RNA 1124 [Gene - HGNC]
  • LINC01305:long intergenic non-protein coding RNA 1305 [Gene - HGNC]
  • LINC01806:long intergenic non-protein coding RNA 1806 [Gene - HGNC]
  • LINC01876:long intergenic non-protein coding RNA 1876 [Gene - HGNC]
  • LINC01960:long intergenic non-protein coding RNA 1960 [Gene - HGNC]
  • LINC02478:long intergenic non-protein coding RNA 2478 [Gene - HGNC]
  • LNPK:lunapark, ER junction formation factor [Gene - OMIM - HGNC]
  • LY75:lymphocyte antigen 75 [Gene - OMIM - HGNC]
  • MARCHF7:membrane associated ring-CH-type finger 7 [Gene - OMIM - HGNC]
  • METAP1D:methionyl aminopeptidase type 1D, mitochondrial [Gene - OMIM - HGNC]
  • METTL5:methyltransferase 5, N6-adenosine [Gene - OMIM - HGNC]
  • METTL8:methyltransferase 8, tRNA N3-cytidine [Gene - OMIM - HGNC]
  • MIR4774:microRNA 4774 [Gene - HGNC]
  • MIR4785:microRNA 4785 [Gene - HGNC]
  • MIR6888:microRNA 6888 [Gene - HGNC]
  • MIR933:microRNA 933 [Gene - HGNC]
  • MAP3K20:mitogen-activated protein kinase kinase kinase 20 [Gene - OMIM - HGNC]
  • MYO3B:myosin IIIB [Gene - OMIM - HGNC]
  • NOSTRIN:nitric oxide synthase trafficking [Gene - OMIM - HGNC]
  • NR4A2:nuclear receptor subfamily 4 group A member 2 [Gene - OMIM - HGNC]
  • PPIG:peptidylprolyl isomerase G [Gene - OMIM - HGNC]
  • PHOSPHO2:phosphatase, orphan 2 [Gene - HGNC]
  • PLA2R1:phospholipase A2 receptor 1 [Gene - OMIM - HGNC]
  • PKP4:plakophilin 4 [Gene - OMIM - HGNC]
  • GALNT13:polypeptide N-acetylgalactosaminyltransferase 13 [Gene - OMIM - HGNC]
  • GALNT3:polypeptide N-acetylgalactosaminyltransferase 3 [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]
  • PSMD14:proteasome 26S subunit, non-ATPase 14 [Gene - OMIM - HGNC]
  • PDK1:pyruvate dehydrogenase kinase 1 [Gene - OMIM - HGNC]
  • SCRN3:secernin 3 [Gene - OMIM - HGNC]
  • STK39:serine/threonine kinase 39 [Gene - OMIM - HGNC]
  • SSB:small RNA binding exonuclease protection factor La [Gene - OMIM - HGNC]
  • SNORD3K:small nucleolar RNA, C/D box 3K [Gene - HGNC]
  • SNORA70F:small nucleolar RNA, H/ACA box 70F [Gene - HGNC]
  • SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
  • SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
  • SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]
  • SCN7A:sodium voltage-gated channel alpha subunit 7 [Gene - OMIM - HGNC]
  • SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
  • SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
  • SLC38A11:solute carrier family 38 member 11 [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]
  • TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]
  • TANC1:tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 [Gene - OMIM - HGNC]
  • TLK1:tousled like kinase 1 [Gene - OMIM - HGNC]
  • UBR3:ubiquitin protein ligase E3 component n-recognin 3 [Gene - OMIM - HGNC]
  • LOC100130256:uncharacterized LOC100130256 [Gene]
  • LOC100506124:uncharacterized LOC100506124 [Gene]
  • LOC101929532:uncharacterized LOC101929532 [Gene]
  • LOC101929633:uncharacterized LOC101929633 [Gene]
  • LOC102724058:uncharacterized LOC102724058 [Gene]
  • FLJ46875:uncharacterized LOC440918 [Gene]
  • UPP2:uridine phosphorylase 2 [Gene - OMIM - HGNC]
  • XIRP2:xin actin binding repeat containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q24.1-31.1
Genomic location:
Preferred name:
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3
HGVS:
  • NC_000002.12:g.(?_154294042)_(175989372_?)dup
  • NC_000002.11:g.(?_155150555)_(176854100_?)dup
Links:
dbVar: nssv3395355; dbVar: nsv996172
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000183602ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Mar 10, 2014) 		not providedclinical 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 1, SCV000183602.4

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

Last Updated: Oct 14, 2023