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GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000054127.6

Allele description [Variation Report for GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1]

GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1

Genes:
  • 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]
  • LOC129935156:ATAC-STARR-seq lymphoblastoid active region 16788 [Gene]
  • LOC129935157:ATAC-STARR-seq lymphoblastoid active region 16789 [Gene]
  • LOC129935159:ATAC-STARR-seq lymphoblastoid active region 16790 [Gene]
  • LOC129935160:ATAC-STARR-seq lymphoblastoid active region 16791 [Gene]
  • LOC129935164:ATAC-STARR-seq lymphoblastoid active region 16792 [Gene]
  • LOC129935166:ATAC-STARR-seq lymphoblastoid active region 16793 [Gene]
  • LOC129935167:ATAC-STARR-seq lymphoblastoid active region 16794 [Gene]
  • LOC129935170:ATAC-STARR-seq lymphoblastoid active region 16796 [Gene]
  • LOC129935173:ATAC-STARR-seq lymphoblastoid active region 16798 [Gene]
  • LOC129935174:ATAC-STARR-seq lymphoblastoid active region 16799 [Gene]
  • LOC129935175:ATAC-STARR-seq lymphoblastoid active region 16800 [Gene]
  • LOC129935176:ATAC-STARR-seq lymphoblastoid active region 16801 [Gene]
  • LOC129935178:ATAC-STARR-seq lymphoblastoid active region 16802 [Gene]
  • LOC129935180:ATAC-STARR-seq lymphoblastoid active region 16805 [Gene]
  • LOC129935182:ATAC-STARR-seq lymphoblastoid active region 16807 [Gene]
  • LOC129935183:ATAC-STARR-seq lymphoblastoid active region 16808 [Gene]
  • LOC129935184:ATAC-STARR-seq lymphoblastoid active region 16809 [Gene]
  • LOC129935185:ATAC-STARR-seq lymphoblastoid active region 16810 [Gene]
  • LOC129935186:ATAC-STARR-seq lymphoblastoid active region 16811 [Gene]
  • LOC129935187:ATAC-STARR-seq lymphoblastoid active region 16812 [Gene]
  • LOC129935188:ATAC-STARR-seq lymphoblastoid active region 16813 [Gene]
  • LOC129935189:ATAC-STARR-seq lymphoblastoid active region 16814 [Gene]
  • LOC129935190:ATAC-STARR-seq lymphoblastoid active region 16815 [Gene]
  • LOC129935191:ATAC-STARR-seq lymphoblastoid active region 16816 [Gene]
  • LOC129935192:ATAC-STARR-seq lymphoblastoid active region 16817 [Gene]
  • LOC129935193:ATAC-STARR-seq lymphoblastoid active region 16818 [Gene]
  • LOC129935195:ATAC-STARR-seq lymphoblastoid active region 16819 [Gene]
  • LOC129935196:ATAC-STARR-seq lymphoblastoid active region 16820 [Gene]
  • LOC129935199:ATAC-STARR-seq lymphoblastoid active region 16821 [Gene]
  • LOC129935201:ATAC-STARR-seq lymphoblastoid active region 16822 [Gene]
  • LOC129935202:ATAC-STARR-seq lymphoblastoid active region 16823 [Gene]
  • LOC129935203:ATAC-STARR-seq lymphoblastoid active region 16824 [Gene]
  • LOC129935204:ATAC-STARR-seq lymphoblastoid active region 16825 [Gene]
  • LOC129935205:ATAC-STARR-seq lymphoblastoid active region 16826 [Gene]
  • LOC129935206:ATAC-STARR-seq lymphoblastoid active region 16827 [Gene]
  • LOC129935207:ATAC-STARR-seq lymphoblastoid active region 16828 [Gene]
  • LOC129935209:ATAC-STARR-seq lymphoblastoid active region 16829 [Gene]
  • LOC129935210:ATAC-STARR-seq lymphoblastoid active region 16830 [Gene]
  • LOC129935211:ATAC-STARR-seq lymphoblastoid active region 16831 [Gene]
  • LOC129935212:ATAC-STARR-seq lymphoblastoid active region 16832 [Gene]
  • LOC129935213:ATAC-STARR-seq lymphoblastoid active region 16833 [Gene]
  • LOC129935216:ATAC-STARR-seq lymphoblastoid active region 16834 [Gene]
  • LOC129935219:ATAC-STARR-seq lymphoblastoid active region 16835 [Gene]
  • LOC129935220:ATAC-STARR-seq lymphoblastoid active region 16836 [Gene]
  • LOC129935221:ATAC-STARR-seq lymphoblastoid active region 16837 [Gene]
  • LOC129935223:ATAC-STARR-seq lymphoblastoid active region 16838 [Gene]
  • LOC129935224:ATAC-STARR-seq lymphoblastoid active region 16839 [Gene]
  • LOC129935225:ATAC-STARR-seq lymphoblastoid active region 16840 [Gene]
  • LOC129935226:ATAC-STARR-seq lymphoblastoid active region 16841 [Gene]
  • LOC129935229:ATAC-STARR-seq lymphoblastoid active region 16842 [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]
  • LOC129935158:ATAC-STARR-seq lymphoblastoid silent region 12136 [Gene]
  • LOC129935161:ATAC-STARR-seq lymphoblastoid silent region 12138 [Gene]
  • LOC129935162:ATAC-STARR-seq lymphoblastoid silent region 12139 [Gene]
  • LOC129935163:ATAC-STARR-seq lymphoblastoid silent region 12140 [Gene]
  • LOC129935165:ATAC-STARR-seq lymphoblastoid silent region 12141 [Gene]
  • LOC129935168:ATAC-STARR-seq lymphoblastoid silent region 12143 [Gene]
  • LOC129935169:ATAC-STARR-seq lymphoblastoid silent region 12145 [Gene]
  • LOC129935171:ATAC-STARR-seq lymphoblastoid silent region 12146 [Gene]
  • LOC129935172:ATAC-STARR-seq lymphoblastoid silent region 12147 [Gene]
  • LOC129935177:ATAC-STARR-seq lymphoblastoid silent region 12148 [Gene]
  • LOC129935179:ATAC-STARR-seq lymphoblastoid silent region 12150 [Gene]
  • LOC129935181:ATAC-STARR-seq lymphoblastoid silent region 12151 [Gene]
  • LOC129935194:ATAC-STARR-seq lymphoblastoid silent region 12152 [Gene]
  • LOC129935197:ATAC-STARR-seq lymphoblastoid silent region 12153 [Gene]
  • LOC129935198:ATAC-STARR-seq lymphoblastoid silent region 12154 [Gene]
  • LOC129935200:ATAC-STARR-seq lymphoblastoid silent region 12155 [Gene]
  • LOC129935208:ATAC-STARR-seq lymphoblastoid silent region 12156 [Gene]
  • LOC129935214:ATAC-STARR-seq lymphoblastoid silent region 12157 [Gene]
  • LOC129935215:ATAC-STARR-seq lymphoblastoid silent region 12158 [Gene]
  • LOC129935217:ATAC-STARR-seq lymphoblastoid silent region 12159 [Gene]
  • LOC129935218:ATAC-STARR-seq lymphoblastoid silent region 12160 [Gene]
  • LOC129935222:ATAC-STARR-seq lymphoblastoid silent region 12162 [Gene]
  • LOC129935227:ATAC-STARR-seq lymphoblastoid silent region 12164 [Gene]
  • LOC129935228:ATAC-STARR-seq lymphoblastoid silent region 12165 [Gene]
  • LOC129935230:ATAC-STARR-seq lymphoblastoid silent region 12166 [Gene]
  • ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
  • LOC126806405:BRD4-independent group 4 enhancer GRCh37_chr2:173295051-173296250 [Gene]
  • LOC126806416:BRD4-independent group 4 enhancer GRCh37_chr2:178051754-178052953 [Gene]
  • LOC126806418:BRD4-independent group 4 enhancer GRCh37_chr2:178202734-178203933 [Gene]
  • LOC126806420:BRD4-independent group 4 enhancer GRCh37_chr2:179401104-179402303 [Gene]
  • LOC126806422:BRD4-independent group 4 enhancer GRCh37_chr2:179440205-179441404 [Gene]
  • LOC126806425:BRD4-independent group 4 enhancer GRCh37_chr2:179471933-179473132 [Gene]
  • LOC126806426:BRD4-independent group 4 enhancer GRCh37_chr2:179478848-179480047 [Gene]
  • LOC126806427:BRD4-independent group 4 enhancer GRCh37_chr2:179485777-179486976 [Gene]
  • LOC126806428:BRD4-independent group 4 enhancer GRCh37_chr2:179588362-179589561 [Gene]
  • LOC126806429:BRD4-independent group 4 enhancer GRCh37_chr2:179591393-179592592 [Gene]
  • LOC126806430:BRD4-independent group 4 enhancer GRCh37_chr2:179593794-179594993 [Gene]
  • LOC126806433:BRD4-independent group 4 enhancer GRCh37_chr2:179638309-179639508 [Gene]
  • LOC126806439:BRD4-independent group 4 enhancer GRCh37_chr2:181678325-181679524 [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]
  • LOC126806413:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:177453489-177454688 [Gene]
  • LOC126806421:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179407630-179408829 [Gene]
  • LOC126806423:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179443309-179444508 [Gene]
  • LOC126806424:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179456337-179457536 [Gene]
  • LOC126806431:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179595719-179596918 [Gene]
  • LOC126806432:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:179611985-179613184 [Gene]
  • LOC126806443:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:185135148-185136347 [Gene]
  • LOC115945201:CRISPRi-validated cis-regulatory element chr2.5458 [Gene]
  • CWC22:CWC22 spliceosome associated protein homolog [Gene - OMIM - HGNC]
  • DCAF17:DDB1 and CUL4 associated factor 17 [Gene - OMIM - HGNC]
  • DLX2-DT:DLX2 divergent transcript [Gene - HGNC]
  • DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [Gene - OMIM - HGNC]
  • EPCART:ERG-positive prostate cancer associated androgen responsive transcript [Gene - HGNC]
  • ERICH2-DT:ERICH2 divergent transcript [Gene - HGNC]
  • FKBP7:FKBP prolyl isomerase 7 [Gene - OMIM - HGNC]
  • FSIP2-AS1:FSIP2 antisense RNA 1 [Gene - HGNC]
  • FSIP2-AS2:FSIP2 antisense RNA 2 [Gene - HGNC]
  • GPR155:G protein-coupled receptor 155 [Gene - HGNC]
  • GPR155-DT:GPR155 divergent transcript [Gene - HGNC]
  • HAGLROS:HAGLR opposite strand lncRNA [Gene - HGNC]
  • HAGLR:HOXD antisense growth-associated long non-coding RNA [Gene - OMIM - HGNC]
  • HOXD-AS2:HOXD cluster antisense RNA 2 [Gene - HGNC]
  • ITGA6-AS1:ITGA6 antisense RNA 1 [Gene - HGNC]
  • ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
  • MAP3K20-AS1:MAP3K20 antisense RNA 1 [Gene - HGNC]
  • 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]
  • LOC126806415:MED14-independent group 3 enhancer GRCh37_chr2:178034228-178035427 [Gene]
  • LOC126806417:MED14-independent group 3 enhancer GRCh37_chr2:178127429-178128628 [Gene]
  • LOC126806419:MED14-independent group 3 enhancer GRCh37_chr2:178338764-178339963 [Gene]
  • LOC126806434:MED14-independent group 3 enhancer GRCh37_chr2:179735609-179736808 [Gene]
  • LOC126806435:MED14-independent group 3 enhancer GRCh37_chr2:179738995-179740194 [Gene]
  • LOC126806436:MED14-independent group 3 enhancer GRCh37_chr2:180208678-180209877 [Gene]
  • LOC126806441:MED14-independent group 3 enhancer GRCh37_chr2:182819339-182820538 [Gene]
  • LOC126806444:MED14-independent group 3 enhancer GRCh37_chr2:186432447-186433646 [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]
  • LOC129388954:MPRA-validated peak3947 silencer [Gene]
  • LOC129388955:MPRA-validated peak3948 silencer [Gene]
  • LOC129388956:MPRA-validated peak3949 silencer [Gene]
  • LOC129388957:MPRA-validated peak3950 silencer [Gene]
  • LOC129388958:MPRA-validated peak3953 silencer [Gene]
  • LOC129388959:MPRA-validated peak3955 silencer [Gene]
  • LOC129388960:MPRA-validated peak3959 silencer [Gene]
  • LOC129388961:MPRA-validated peak3961 silencer [Gene]
  • LOC129388962:MPRA-validated peak3962 silencer [Gene]
  • LOC129388963:MPRA-validated peak3963 silencer [Gene]
  • LOC129388964:MPRA-validated peak3964 silencer [Gene]
  • LOC129388965:MPRA-validated peak3967 silencer [Gene]
  • LOC129388966:MPRA-validated peak3970 silencer [Gene]
  • LOC129388967:MPRA-validated peak3973 silencer [Gene]
  • NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
  • NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
  • NRAL:NRF2 regulation associated lncRNA [Gene - HGNC]
  • LOC107126359:NUP98-HOXD13 recombination region [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]
  • LOC132088804:Neanderthal introgressed variant-containing enhancer experimental_56479 [Gene]
  • LOC132088805:Neanderthal introgressed variant-containing enhancer experimental_56698 [Gene]
  • LOC132088806:Neanderthal introgressed variant-containing enhancer experimental_56700 [Gene]
  • LOC132088807:Neanderthal introgressed variant-containing enhancer experimental_56701 [Gene]
  • LOC132088808:Neanderthal introgressed variant-containing enhancer experimental_56707 [Gene]
  • LOC132088809:Neanderthal introgressed variant-containing enhancer experimental_56714 [Gene]
  • LOC132088810:Neanderthal introgressed variant-containing enhancer experimental_56716 [Gene]
  • LOC132088811:Neanderthal introgressed variant-containing enhancer experimental_56717 [Gene]
  • LOC132088812:Neanderthal introgressed variant-containing enhancer experimental_56718 [Gene]
  • LOC132088813:Neanderthal introgressed variant-containing enhancer experimental_56719 [Gene]
  • LOC132088814:Neanderthal introgressed variant-containing enhancer experimental_56720 [Gene]
  • LOC132088815:Neanderthal introgressed variant-containing enhancer experimental_56724 [Gene]
  • OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC126806414:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:177485641-177486840 [Gene]
  • LOC126806437:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:180324663-180325862 [Gene]
  • LOC126806438:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:181520993-181522192 [Gene]
  • LOC126806440:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182655450-182656649 [Gene]
  • LOC108281145:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:182740630-182741829 [Gene]
  • LOC126806442:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:183516578-183517777 [Gene]
  • PDE11A-AS1:PDE11A antisense RNA 1 [Gene - HGNC]
  • PDK1-AS1:PDK1 and ITGA6 antisense RNA 1 [Gene - HGNC]
  • LOC100130691:Putative uncharacterized protein FLJ44553 [Gene]
  • RAPGEF4-AS1:RAPGEF4 antisense RNA 1 [Gene - HGNC]
  • RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
  • RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
  • SESTD1:SEC14 and spectrin domain containing 1 [Gene - HGNC]
  • SCHLAP1:SWI/SNF complex antagonist associated with prostate cancer 1 [Gene - OMIM - HGNC]
  • LOC122861260:Sharpr-MPRA regulatory region 10987 [Gene]
  • LOC122861258:Sharpr-MPRA regulatory region 1228 [Gene]
  • LOC122861240:Sharpr-MPRA regulatory region 126 [Gene]
  • LOC122861249:Sharpr-MPRA regulatory region 13302 [Gene]
  • LOC122861244:Sharpr-MPRA regulatory region 13906 [Gene]
  • LOC122861242:Sharpr-MPRA regulatory region 13988 [Gene]
  • LOC112806063:Sharpr-MPRA regulatory region 14191 [Gene]
  • LOC122861253:Sharpr-MPRA regulatory region 14377 [Gene]
  • LOC122861261:Sharpr-MPRA regulatory region 14896 [Gene]
  • LOC122861243:Sharpr-MPRA regulatory region 14969 [Gene]
  • LOC122847318:Sharpr-MPRA regulatory region 14975 [Gene]
  • LOC122847314:Sharpr-MPRA regulatory region 14 [Gene]
  • LOC122861262:Sharpr-MPRA regulatory region 15031 [Gene]
  • LOC122861247:Sharpr-MPRA regulatory region 15219 [Gene]
  • LOC122861254:Sharpr-MPRA regulatory region 15369 [Gene]
  • LOC122861246:Sharpr-MPRA regulatory region 1697 [Gene]
  • LOC122847313:Sharpr-MPRA regulatory region 1892 [Gene]
  • LOC122861252:Sharpr-MPRA regulatory region 2066 [Gene]
  • LOC120977016:Sharpr-MPRA regulatory region 4096 [Gene]
  • LOC122847317:Sharpr-MPRA regulatory region 4152 [Gene]
  • LOC112806059:Sharpr-MPRA regulatory region 4236 [Gene]
  • LOC120977015:Sharpr-MPRA regulatory region 431 [Gene]
  • LOC122861251:Sharpr-MPRA regulatory region 4724 [Gene]
  • LOC112806061:Sharpr-MPRA regulatory region 4751 [Gene]
  • LOC122847320:Sharpr-MPRA regulatory region 7042 [Gene]
  • LOC122847315:Sharpr-MPRA regulatory region 707 [Gene]
  • LOC122861257:Sharpr-MPRA regulatory region 7285 [Gene]
  • LOC112806062:Sharpr-MPRA regulatory region 7527 [Gene]
  • LOC122861255:Sharpr-MPRA regulatory region 8011 [Gene]
  • LOC122861241:Sharpr-MPRA regulatory region 8106 [Gene]
  • LOC112806060:Sharpr-MPRA regulatory region 8299 [Gene]
  • LOC122861259:Sharpr-MPRA regulatory region 8338 [Gene]
  • LOC122861248:Sharpr-MPRA regulatory region 8538 [Gene]
  • LOC122847316:Sharpr-MPRA regulatory region 8774 [Gene]
  • LOC122861263:Sharpr-MPRA regulatory region 9118 [Gene]
  • LOC122861245:Sharpr-MPRA regulatory region 9658 [Gene]
  • LOC122861256:Sharpr-MPRA regulatory region 9723 [Gene]
  • LOC122861250:Sharpr-MPRA regulatory region 9735 [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]
  • TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
  • UBE2E3-DT:UBE2E3 divergent transcript [Gene - HGNC]
  • LOC110120624:VISTA enhancer hs242 [Gene]
  • LOC110120625:VISTA enhancer hs243 [Gene]
  • LOC110120626:VISTA enhancer hs244 [Gene]
  • LOC110120627:VISTA enhancer hs246 [Gene]
  • LOC110120628:VISTA enhancer hs248 [Gene]
  • LOC110120678:VISTA enhancer hs422 [Gene]
  • LOC110120701:VISTA enhancer hs553 [Gene]
  • LOC110120730:VISTA enhancer hs646 [Gene]
  • LOC110120790:VISTA enhancer hs860 [Gene]
  • LOC110120809:VISTA enhancer hs953 [Gene]
  • WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
  • ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
  • AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
  • CDCA7:cell division cycle associated 7 [Gene - OMIM - HGNC]
  • CERKL:ceramide kinase like [Gene - OMIM - HGNC]
  • CHN1:chimerin 1 [Gene - OMIM - HGNC]
  • CHROMR:cholesterol induced regulator of metabolism RNA [Gene - HGNC]
  • CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
  • CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
  • CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
  • CYBRD1:cytochrome b reductase 1 [Gene - OMIM - HGNC]
  • DLX1:distal-less homeobox 1 [Gene - OMIM - HGNC]
  • DLX2:distal-less homeobox 2 [Gene - OMIM - HGNC]
  • DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
  • DYNC1I2:dynein cytoplasmic 1 intermediate chain 2 [Gene - OMIM - HGNC]
  • EVX2:even-skipped homeobox 2 [Gene - OMIM - HGNC]
  • FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
  • FRZB:frizzled related protein [Gene - OMIM - HGNC]
  • GAD1:glutamate decarboxylase 1 [Gene - OMIM - HGNC]
  • ERICH2:glutamate rich 2 [Gene - HGNC]
  • GORASP2:golgi reassembly stacking protein 2 [Gene - OMIM - HGNC]
  • HNRNPA3:heterogeneous nuclear ribonucleoprotein A3 [Gene - OMIM - HGNC]
  • HAT1:histone acetyltransferase 1 [Gene - OMIM - HGNC]
  • HOXD10:homeobox D10 [Gene - OMIM - HGNC]
  • HOXD11:homeobox D11 [Gene - OMIM - HGNC]
  • HOXD12:homeobox D12 [Gene - OMIM - HGNC]
  • HOXD13:homeobox D13 [Gene - OMIM - HGNC]
  • HOXD1:homeobox D1 [Gene - OMIM - HGNC]
  • HOXD3:homeobox D3 [Gene - OMIM - HGNC]
  • HOXD4:homeobox D4 [Gene - OMIM - HGNC]
  • HOXD8:homeobox D8 [Gene - OMIM - HGNC]
  • HOXD9:homeobox D9 [Gene - OMIM - HGNC]
  • ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
  • ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]
  • IFT70A:intraflagellar transport 70A [Gene - OMIM - HGNC]
  • IFT70B:intraflagellar transport 70B [Gene - OMIM - HGNC]
  • LINC01116:long intergenic non-protein coding RNA 1116 [Gene - HGNC]
  • LINC01117:long intergenic non-protein coding RNA 1117 [Gene - HGNC]
  • LINC01124:long intergenic non-protein coding RNA 1124 [Gene - HGNC]
  • LINC01305:long intergenic non-protein coding RNA 1305 [Gene - HGNC]
  • LINC01473:long intergenic non-protein coding RNA 1473 [Gene - HGNC]
  • LINC01934:long intergenic non-protein coding RNA 1934 [Gene - HGNC]
  • LINC01960:long intergenic non-protein coding RNA 1960 [Gene - HGNC]
  • LNPK:lunapark, ER junction formation factor [Gene - OMIM - HGNC]
  • MTX2:metaxin 2 [Gene - OMIM - HGNC]
  • METAP1D:methionyl aminopeptidase type 1D, mitochondrial [Gene - OMIM - HGNC]
  • METTL8:methyltransferase 8, tRNA N3-cytidine [Gene - OMIM - HGNC]
  • MIR10B:microRNA 10b [Gene - OMIM - HGNC]
  • MIR1246:microRNA 1246 [Gene - HGNC]
  • MIR1258:microRNA 1258 [Gene - OMIM - HGNC]
  • MIR3128:microRNA 3128 [Gene - HGNC]
  • MIR4437:microRNA 4437 [Gene - HGNC]
  • MIR4444-1:microRNA 4444-1 [Gene - HGNC]
  • MIR548AE1:microRNA 548ae-1 [Gene - HGNC]
  • MIR6512:microRNA 6512 [Gene - HGNC]
  • MIR7704:microRNA 7704 [Gene - HGNC]
  • MIR933:microRNA 933 [Gene - HGNC]
  • MAP3K20:mitogen-activated protein kinase kinase kinase 20 [Gene - OMIM - HGNC]
  • MYO3B:myosin IIIB [Gene - OMIM - HGNC]
  • NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
  • NUP35:nucleoporin 35 [Gene - OMIM - HGNC]
  • OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
  • PJVK:pejvakin [Gene - OMIM - HGNC]
  • PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
  • PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
  • PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
  • LOC105373780:proline-rich protein 18-like [Gene]
  • PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
  • PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [Gene - OMIM - HGNC]
  • PDK1:pyruvate dehydrogenase kinase 1 [Gene - OMIM - HGNC]
  • SCRN3:secernin 3 [Gene - OMIM - HGNC]
  • SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
  • TTN:titin [Gene - OMIM - HGNC]
  • TLK1:tousled like kinase 1 [Gene - OMIM - HGNC]
  • UBE2E3:ubiquitin conjugating enzyme E2 E3 [Gene - OMIM - HGNC]
  • LOC100129455:uncharacterized LOC100129455 [Gene]
  • LOC100130256:uncharacterized LOC100130256 [Gene]
  • LOC101927055:uncharacterized LOC101927055 [Gene]
  • LOC105373757:uncharacterized LOC105373757 [Gene]
  • LOC105373759:uncharacterized LOC105373759 [Gene]
  • LOC105373782:uncharacterized LOC105373782 [Gene]
  • LOC401021:uncharacterized LOC401021 [Gene]
  • ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]
  • ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q31.1-32.1
Genomic location:
Preferred name:
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1
HGVS:
  • NC_000002.12:g.(?_170407688)_(186189894_?)del
  • NC_000002.10:g.(?_170972444)_(186762866_?)del
  • NC_000002.11:g.(?_171264198)_(187054621_?)del
Links:
dbVar: nssv577733; dbVar: nsv532796
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
SCV000081491ISCA site 15

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

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

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 15, SCV000081491.4

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

Last Updated: May 7, 2024