U.S. flag

An official website of the United States government

GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)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:
RCV000053978.7

Allele description

GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1

Genes:
  • ADAM17:ADAM metallopeptidase domain 17 [Gene - OMIM - HGNC]
  • LOC129933019:ATAC-STARR-seq lymphoblastoid active region 15245 [Gene]
  • LOC129933021:ATAC-STARR-seq lymphoblastoid active region 15246 [Gene]
  • LOC129933022:ATAC-STARR-seq lymphoblastoid active region 15247 [Gene]
  • LOC129933024:ATAC-STARR-seq lymphoblastoid active region 15248 [Gene]
  • LOC129933025:ATAC-STARR-seq lymphoblastoid active region 15249 [Gene]
  • LOC129933026:ATAC-STARR-seq lymphoblastoid active region 15250 [Gene]
  • LOC129933027:ATAC-STARR-seq lymphoblastoid active region 15251 [Gene]
  • LOC129933028:ATAC-STARR-seq lymphoblastoid active region 15252 [Gene]
  • LOC129933029:ATAC-STARR-seq lymphoblastoid active region 15253 [Gene]
  • LOC129933030:ATAC-STARR-seq lymphoblastoid active region 15254 [Gene]
  • LOC129933031:ATAC-STARR-seq lymphoblastoid active region 15255 [Gene]
  • LOC129933032:ATAC-STARR-seq lymphoblastoid active region 15256 [Gene]
  • LOC129933033:ATAC-STARR-seq lymphoblastoid active region 15257 [Gene]
  • LOC129933034:ATAC-STARR-seq lymphoblastoid active region 15258 [Gene]
  • LOC129933035:ATAC-STARR-seq lymphoblastoid active region 15259 [Gene]
  • LOC129933036:ATAC-STARR-seq lymphoblastoid active region 15260 [Gene]
  • LOC129933038:ATAC-STARR-seq lymphoblastoid active region 15265 [Gene]
  • LOC129933039:ATAC-STARR-seq lymphoblastoid active region 15266 [Gene]
  • LOC129933040:ATAC-STARR-seq lymphoblastoid active region 15268 [Gene]
  • LOC129933041:ATAC-STARR-seq lymphoblastoid active region 15270 [Gene]
  • LOC129933042:ATAC-STARR-seq lymphoblastoid active region 15271 [Gene]
  • LOC129933043:ATAC-STARR-seq lymphoblastoid active region 15272 [Gene]
  • LOC129933044:ATAC-STARR-seq lymphoblastoid active region 15273 [Gene]
  • LOC129933045:ATAC-STARR-seq lymphoblastoid active region 15274 [Gene]
  • LOC129933049:ATAC-STARR-seq lymphoblastoid active region 15275 [Gene]
  • LOC129933050:ATAC-STARR-seq lymphoblastoid active region 15276 [Gene]
  • LOC129933052:ATAC-STARR-seq lymphoblastoid active region 15277 [Gene]
  • LOC129933053:ATAC-STARR-seq lymphoblastoid active region 15278 [Gene]
  • LOC129933054:ATAC-STARR-seq lymphoblastoid active region 15279 [Gene]
  • LOC129933057:ATAC-STARR-seq lymphoblastoid active region 15280 [Gene]
  • LOC129933058:ATAC-STARR-seq lymphoblastoid active region 15281 [Gene]
  • LOC129933059:ATAC-STARR-seq lymphoblastoid active region 15282 [Gene]
  • LOC129933063:ATAC-STARR-seq lymphoblastoid active region 15284 [Gene]
  • LOC129933064:ATAC-STARR-seq lymphoblastoid active region 15285 [Gene]
  • LOC129933065:ATAC-STARR-seq lymphoblastoid active region 15286 [Gene]
  • LOC129933066:ATAC-STARR-seq lymphoblastoid active region 15287 [Gene]
  • LOC129933067:ATAC-STARR-seq lymphoblastoid active region 15288 [Gene]
  • LOC129933068:ATAC-STARR-seq lymphoblastoid active region 15289 [Gene]
  • LOC129933069:ATAC-STARR-seq lymphoblastoid active region 15290 [Gene]
  • LOC129933070:ATAC-STARR-seq lymphoblastoid active region 15291 [Gene]
  • LOC129933071:ATAC-STARR-seq lymphoblastoid active region 15292 [Gene]
  • LOC129933072:ATAC-STARR-seq lymphoblastoid active region 15293 [Gene]
  • LOC129933077:ATAC-STARR-seq lymphoblastoid active region 15295 [Gene]
  • LOC129933091:ATAC-STARR-seq lymphoblastoid active region 15296 [Gene]
  • LOC129933092:ATAC-STARR-seq lymphoblastoid active region 15297 [Gene]
  • LOC129933094:ATAC-STARR-seq lymphoblastoid active region 15300 [Gene]
  • LOC129933096:ATAC-STARR-seq lymphoblastoid active region 15301 [Gene]
  • LOC129933098:ATAC-STARR-seq lymphoblastoid active region 15303 [Gene]
  • LOC129933099:ATAC-STARR-seq lymphoblastoid active region 15304 [Gene]
  • LOC129933101:ATAC-STARR-seq lymphoblastoid active region 15305 [Gene]
  • LOC129933102:ATAC-STARR-seq lymphoblastoid active region 15306 [Gene]
  • LOC129933103:ATAC-STARR-seq lymphoblastoid active region 15307 [Gene]
  • LOC129933104:ATAC-STARR-seq lymphoblastoid active region 15308 [Gene]
  • LOC129933105:ATAC-STARR-seq lymphoblastoid active region 15309 [Gene]
  • LOC129933106:ATAC-STARR-seq lymphoblastoid active region 15310 [Gene]
  • LOC129933107:ATAC-STARR-seq lymphoblastoid active region 15311 [Gene]
  • LOC129933108:ATAC-STARR-seq lymphoblastoid active region 15312 [Gene]
  • LOC129933109:ATAC-STARR-seq lymphoblastoid active region 15313 [Gene]
  • LOC129933113:ATAC-STARR-seq lymphoblastoid active region 15314 [Gene]
  • LOC129933114:ATAC-STARR-seq lymphoblastoid active region 15315 [Gene]
  • LOC129933115:ATAC-STARR-seq lymphoblastoid active region 15316 [Gene]
  • LOC129933116:ATAC-STARR-seq lymphoblastoid active region 15317 [Gene]
  • LOC129933122:ATAC-STARR-seq lymphoblastoid active region 15318 [Gene]
  • LOC129933123:ATAC-STARR-seq lymphoblastoid active region 15319 [Gene]
  • LOC129933124:ATAC-STARR-seq lymphoblastoid active region 15320 [Gene]
  • LOC129933126:ATAC-STARR-seq lymphoblastoid active region 15321 [Gene]
  • LOC129933128:ATAC-STARR-seq lymphoblastoid active region 15322 [Gene]
  • LOC129933129:ATAC-STARR-seq lymphoblastoid active region 15323 [Gene]
  • LOC129933131:ATAC-STARR-seq lymphoblastoid active region 15324 [Gene]
  • LOC129933132:ATAC-STARR-seq lymphoblastoid active region 15325 [Gene]
  • LOC129933133:ATAC-STARR-seq lymphoblastoid active region 15326 [Gene]
  • LOC129933134:ATAC-STARR-seq lymphoblastoid active region 15327 [Gene]
  • LOC129933136:ATAC-STARR-seq lymphoblastoid active region 15328 [Gene]
  • LOC129933137:ATAC-STARR-seq lymphoblastoid active region 15329 [Gene]
  • LOC129933138:ATAC-STARR-seq lymphoblastoid active region 15330 [Gene]
  • LOC129933140:ATAC-STARR-seq lymphoblastoid active region 15331 [Gene]
  • LOC129933142:ATAC-STARR-seq lymphoblastoid active region 15332 [Gene]
  • LOC129933143:ATAC-STARR-seq lymphoblastoid active region 15333 [Gene]
  • LOC129933144:ATAC-STARR-seq lymphoblastoid active region 15334 [Gene]
  • LOC129933145:ATAC-STARR-seq lymphoblastoid active region 15335 [Gene]
  • LOC129933146:ATAC-STARR-seq lymphoblastoid active region 15336 [Gene]
  • LOC129933147:ATAC-STARR-seq lymphoblastoid active region 15337 [Gene]
  • LOC129933148:ATAC-STARR-seq lymphoblastoid active region 15338 [Gene]
  • LOC129933149:ATAC-STARR-seq lymphoblastoid active region 15339 [Gene]
  • LOC129933152:ATAC-STARR-seq lymphoblastoid active region 15341 [Gene]
  • LOC129933153:ATAC-STARR-seq lymphoblastoid active region 15342 [Gene]
  • LOC129933155:ATAC-STARR-seq lymphoblastoid active region 15346 [Gene]
  • LOC129933156:ATAC-STARR-seq lymphoblastoid active region 15347 [Gene]
  • LOC129933158:ATAC-STARR-seq lymphoblastoid active region 15348 [Gene]
  • LOC129933018:ATAC-STARR-seq lymphoblastoid silent region 11120 [Gene]
  • LOC129933020:ATAC-STARR-seq lymphoblastoid silent region 11121 [Gene]
  • LOC129933023:ATAC-STARR-seq lymphoblastoid silent region 11122 [Gene]
  • LOC129933037:ATAC-STARR-seq lymphoblastoid silent region 11124 [Gene]
  • LOC129933046:ATAC-STARR-seq lymphoblastoid silent region 11129 [Gene]
  • LOC129933047:ATAC-STARR-seq lymphoblastoid silent region 11130 [Gene]
  • LOC129933048:ATAC-STARR-seq lymphoblastoid silent region 11131 [Gene]
  • LOC129933051:ATAC-STARR-seq lymphoblastoid silent region 11133 [Gene]
  • LOC129933055:ATAC-STARR-seq lymphoblastoid silent region 11135 [Gene]
  • LOC129933056:ATAC-STARR-seq lymphoblastoid silent region 11136 [Gene]
  • LOC129933060:ATAC-STARR-seq lymphoblastoid silent region 11137 [Gene]
  • LOC129933061:ATAC-STARR-seq lymphoblastoid silent region 11138 [Gene]
  • LOC129933062:ATAC-STARR-seq lymphoblastoid silent region 11139 [Gene]
  • LOC129933073:ATAC-STARR-seq lymphoblastoid silent region 11140 [Gene]
  • LOC129933074:ATAC-STARR-seq lymphoblastoid silent region 11141 [Gene]
  • LOC129933075:ATAC-STARR-seq lymphoblastoid silent region 11142 [Gene]
  • LOC129933076:ATAC-STARR-seq lymphoblastoid silent region 11143 [Gene]
  • LOC129933078:ATAC-STARR-seq lymphoblastoid silent region 11144 [Gene]
  • LOC129933079:ATAC-STARR-seq lymphoblastoid silent region 11145 [Gene]
  • LOC129933080:ATAC-STARR-seq lymphoblastoid silent region 11146 [Gene]
  • LOC129933081:ATAC-STARR-seq lymphoblastoid silent region 11147 [Gene]
  • LOC129933082:ATAC-STARR-seq lymphoblastoid silent region 11148 [Gene]
  • LOC129933083:ATAC-STARR-seq lymphoblastoid silent region 11149 [Gene]
  • LOC129933084:ATAC-STARR-seq lymphoblastoid silent region 11151 [Gene]
  • LOC129933085:ATAC-STARR-seq lymphoblastoid silent region 11152 [Gene]
  • LOC129933086:ATAC-STARR-seq lymphoblastoid silent region 11153 [Gene]
  • LOC129933087:ATAC-STARR-seq lymphoblastoid silent region 11154 [Gene]
  • LOC129933088:ATAC-STARR-seq lymphoblastoid silent region 11155 [Gene]
  • LOC129933089:ATAC-STARR-seq lymphoblastoid silent region 11156 [Gene]
  • LOC129933090:ATAC-STARR-seq lymphoblastoid silent region 11157 [Gene]
  • LOC129933093:ATAC-STARR-seq lymphoblastoid silent region 11159 [Gene]
  • LOC129933095:ATAC-STARR-seq lymphoblastoid silent region 11161 [Gene]
  • LOC129933097:ATAC-STARR-seq lymphoblastoid silent region 11162 [Gene]
  • LOC129933100:ATAC-STARR-seq lymphoblastoid silent region 11165 [Gene]
  • LOC129933110:ATAC-STARR-seq lymphoblastoid silent region 11166 [Gene]
  • LOC129933111:ATAC-STARR-seq lymphoblastoid silent region 11167 [Gene]
  • LOC129933112:ATAC-STARR-seq lymphoblastoid silent region 11168 [Gene]
  • LOC129933117:ATAC-STARR-seq lymphoblastoid silent region 11170 [Gene]
  • LOC129933118:ATAC-STARR-seq lymphoblastoid silent region 11171 [Gene]
  • LOC129933119:ATAC-STARR-seq lymphoblastoid silent region 11172 [Gene]
  • LOC129933120:ATAC-STARR-seq lymphoblastoid silent region 11173 [Gene]
  • LOC129933121:ATAC-STARR-seq lymphoblastoid silent region 11174 [Gene]
  • LOC129933125:ATAC-STARR-seq lymphoblastoid silent region 11175 [Gene]
  • LOC129933127:ATAC-STARR-seq lymphoblastoid silent region 11176 [Gene]
  • LOC129933130:ATAC-STARR-seq lymphoblastoid silent region 11177 [Gene]
  • LOC129933135:ATAC-STARR-seq lymphoblastoid silent region 11178 [Gene]
  • LOC129933139:ATAC-STARR-seq lymphoblastoid silent region 11179 [Gene]
  • LOC129933141:ATAC-STARR-seq lymphoblastoid silent region 11180 [Gene]
  • LOC129933150:ATAC-STARR-seq lymphoblastoid silent region 11181 [Gene]
  • LOC129933151:ATAC-STARR-seq lymphoblastoid silent region 11182 [Gene]
  • LOC129933154:ATAC-STARR-seq lymphoblastoid silent region 11184 [Gene]
  • LOC129933157:ATAC-STARR-seq lymphoblastoid silent region 11185 [Gene]
  • ATP6V1C2:ATPase H+ transporting V1 subunit C2 [Gene - OMIM - HGNC]
  • ASAP2:ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 [Gene - OMIM - HGNC]
  • LOC126806138:BRD4-independent group 4 enhancer GRCh37_chr2:10687298-10688497 [Gene]
  • LOC126806142:BRD4-independent group 4 enhancer GRCh37_chr2:10959839-10961038 [Gene]
  • LOC126806144:BRD4-independent group 4 enhancer GRCh37_chr2:11529482-11530681 [Gene]
  • LOC126806145:BRD4-independent group 4 enhancer GRCh37_chr2:11565759-11566958 [Gene]
  • LOC122756386:BRD4-independent group 4 enhancer GRCh37_chr2:15281925-15283124 [Gene]
  • LOC126806120:BRD4-independent group 4 enhancer GRCh37_chr2:6696453-6697652 [Gene]
  • LOC126806129:BRD4-independent group 4 enhancer GRCh37_chr2:9244583-9245782 [Gene]
  • LOC126806133:BRD4-independent group 4 enhancer GRCh37_chr2:9495983-9497182 [Gene]
  • LOC126806135:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:10422935-10424134 [Gene]
  • LOC126806140:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:10729319-10730518 [Gene]
  • LOC126806147:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:11919054-11920253 [Gene]
  • LOC126806148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12537530-12538729 [Gene]
  • LOC126806149:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:12866409-12867608 [Gene]
  • LOC126806151:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:13662708-13663907 [Gene]
  • LOC126806152:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:15100270-15101469 [Gene]
  • LOC126806121:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:6913298-6914497 [Gene]
  • LOC126806132:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:9427423-9428622 [Gene]
  • LOC129456127:CRISPR/Cas9-targeted silencer 9 [Gene]
  • LOC115804257:CRISPRi-validated cis-regulatory element chr2.183 [Gene]
  • LOC115804258:CRISPRi-validated cis-regulatory element chr2.184 [Gene]
  • LOC115804259:CRISPRi-validated cis-regulatory element chr2.185 [Gene]
  • LOC115804260:CRISPRi-validated cis-regulatory element chr2.403 [Gene]
  • LOC115804261:CRISPRi-validated cis-regulatory element chr2.599 [Gene]
  • DDX1:DEAD-box helicase 1 [Gene - OMIM - HGNC]
  • E2F6:E2F transcription factor 6 [Gene - OMIM - HGNC]
  • ID2-AS1:ID2 antisense RNA 1 [Gene - HGNC]
  • KLF11:KLF transcription factor 11 [Gene - OMIM - HGNC]
  • KLF11-DT:KLF11 divergent transcript [Gene - HGNC]
  • LOC128897170:KLF11 promoter region [Gene]
  • LOC128897171:KLF11-I enhancer [Gene]
  • LRATD1:LRAT domain containing 1 [Gene - OMIM - HGNC]
  • LOC126806146:MED14-independent group 3 enhancer GRCh37_chr2:11771171-11772370 [Gene]
  • LOC126806150:MED14-independent group 3 enhancer GRCh37_chr2:12956433-12957632 [Gene]
  • LOC126806119:MED14-independent group 3 enhancer GRCh37_chr2:6677962-6679161 [Gene]
  • LOC126806122:MED14-independent group 3 enhancer GRCh37_chr2:7113462-7114661 [Gene]
  • LOC126806123:MED14-independent group 3 enhancer GRCh37_chr2:7876672-7877871 [Gene]
  • LOC126806124:MED14-independent group 3 enhancer GRCh37_chr2:8226605-8227804 [Gene]
  • LOC126806127:MED14-independent group 3 enhancer GRCh37_chr2:8802380-8803579 [Gene]
  • LOC126806134:MED14-independent group 3 enhancer GRCh37_chr2:9959896-9961095 [Gene]
  • MIR3681HG:MIR3681 host gene [Gene - HGNC]
  • MIR7515HG:MIR7515 host gene [Gene - HGNC]
  • LOC129388817:MPRA-validated peak3592 silencer [Gene]
  • LOC129388818:MPRA-validated peak3593 silencer [Gene]
  • LOC129388819:MPRA-validated peak3594 silencer [Gene]
  • LOC129388820:MPRA-validated peak3595 silencer [Gene]
  • LOC129388821:MPRA-validated peak3596 silencer [Gene]
  • LOC129388822:MPRA-validated peak3608 silencer [Gene]
  • MYCNOS:MYCN opposite strand [Gene - OMIM - HGNC]
  • MYCN:MYCN proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • MYCNUT:MYCN upstream transcript [Gene - OMIM - HGNC]
  • NBAS:NBAS subunit of NRZ tethering complex [Gene - OMIM - HGNC]
  • LOC111556161:NFE2L2 motif-containing MPRA enhancer 141 [Gene]
  • LOC132088754:Neanderthal introgressed variant-containing enhancer experimental_52900 [Gene]
  • LOC132088755:Neanderthal introgressed variant-containing enhancer experimental_52953 [Gene]
  • LOC132088756:Neanderthal introgressed variant-containing enhancer experimental_52989 [Gene]
  • LOC132088757:Neanderthal introgressed variant-containing enhancer experimental_52999 [Gene]
  • ODC1-DT:ODC1 divergent transcript [Gene - HGNC]
  • LOC126806136:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:10429268-10430467 [Gene]
  • LOC126806137:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:10547784-10548983 [Gene]
  • LOC126806139:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:10715723-10716922 [Gene]
  • LOC126806141:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:10794082-10795281 [Gene]
  • LOC126806143:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:11075650-11076849 [Gene]
  • LOC126806125:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:8587230-8588429 [Gene]
  • LOC126806126:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:8773308-8774507 [Gene]
  • LOC126806128:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:9211073-9212272 [Gene]
  • LOC126806130:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:9319676-9320875 [Gene]
  • LOC126806131:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:9374524-9375723 [Gene]
  • FLJ33534:Putative uncharacterized protein FLJ33534 [Gene]
  • ROCK2:Rho associated coiled-coil containing protein kinase 2 [Gene - OMIM - HGNC]
  • LOC112841604:Sharpr-MPRA regulatory region 10317 [Gene]
  • LOC120961741:Sharpr-MPRA regulatory region 11536 [Gene]
  • LOC112841600:Sharpr-MPRA regulatory region 11674 [Gene]
  • LOC112841605:Sharpr-MPRA regulatory region 12215 [Gene]
  • LOC122756383:Sharpr-MPRA regulatory region 12680 [Gene]
  • LOC121725079:Sharpr-MPRA regulatory region 12758 [Gene]
  • LOC122756384:Sharpr-MPRA regulatory region 12883 [Gene]
  • LOC122756379:Sharpr-MPRA regulatory region 13580 [Gene]
  • LOC122756372:Sharpr-MPRA regulatory region 138 [Gene]
  • LOC122756374:Sharpr-MPRA regulatory region 15524 [Gene]
  • LOC122756376:Sharpr-MPRA regulatory region 1969 [Gene]
  • LOC122756378:Sharpr-MPRA regulatory region 2000 [Gene]
  • LOC122710288:Sharpr-MPRA regulatory region 3683 [Gene]
  • LOC122756375:Sharpr-MPRA regulatory region 4047 [Gene]
  • LOC112806042:Sharpr-MPRA regulatory region 524 [Gene]
  • LOC122710289:Sharpr-MPRA regulatory region 5543 [Gene]
  • LOC122756371:Sharpr-MPRA regulatory region 5743 [Gene]
  • LOC122756373:Sharpr-MPRA regulatory region 6065 [Gene]
  • LOC122710287:Sharpr-MPRA regulatory region 7309 [Gene]
  • LOC111811968:Sharpr-MPRA regulatory region 7427/13434 [Gene]
  • LOC120961742:Sharpr-MPRA regulatory region 7562 [Gene]
  • LOC122756380:Sharpr-MPRA regulatory region 7779 [Gene]
  • LOC122756382:Sharpr-MPRA regulatory region 7856 [Gene]
  • LOC122756387:Sharpr-MPRA regulatory region 8208 [Gene]
  • LOC122756381:Sharpr-MPRA regulatory region 9262 [Gene]
  • LOC122756385:Sharpr-MPRA regulatory region 966 [Gene]
  • LOC122756377:Sharpr-MPRA regulatory region 9983 [Gene]
  • TAF1B:TATA-box binding protein associated factor, RNA polymerase I subunit B [Gene - OMIM - HGNC]
  • LOC110121131:VISTA enhancer hs1527 [Gene]
  • LOC110120665:VISTA enhancer hs388 [Gene]
  • C2orf48:chromosome 2 open reading frame 48 [Gene - HGNC]
  • C2orf50:chromosome 2 open reading frame 50 [Gene - HGNC]
  • CPSF3:cleavage and polyadenylation specific factor 3 [Gene - OMIM - HGNC]
  • CYS1:cystin 1 [Gene - OMIM - HGNC]
  • CMPK2:cytidine/uridine monophosphate kinase 2 [Gene - OMIM - HGNC]
  • GACAT3:gastric cancer associated transcript 3 [Gene - OMIM - HGNC]
  • GRASLND:glycosaminoglycan regulatory associated long non-coding RNA [Gene - HGNC]
  • GRHL1:grainyhead like transcription factor 1 [Gene - OMIM - HGNC]
  • GREB1:growth regulating estrogen receptor binding 1 [Gene - OMIM - HGNC]
  • HPCAL1:hippocalcin like 1 [Gene - OMIM - HGNC]
  • ID2:inhibitor of DNA binding 2 [Gene - OMIM - HGNC]
  • ITGB1BP1:integrin subunit beta 1 binding protein 1 [Gene - OMIM - HGNC]
  • IAH1:isoamyl acetate hydrolyzing esterase 1 (putative) [Gene - HGNC]
  • KIDINS220:kinase D interacting substrate 220 [Gene - OMIM - HGNC]
  • LPIN1:lipin 1 [Gene - OMIM - HGNC]
  • LINC01246:long intergenic non-protein coding RNA 1246 [Gene - HGNC]
  • LINC01804:long intergenic non-protein coding RNA 1804 [Gene - HGNC]
  • LINC01814:long intergenic non-protein coding RNA 1814 [Gene - HGNC]
  • LINC01871:long intergenic non-protein coding RNA 1871 [Gene - HGNC]
  • LINC01954:long intergenic non-protein coding RNA 1954 [Gene - HGNC]
  • LINC00276:long intergenic non-protein coding RNA 276 [Gene - HGNC]
  • LINC00298:long intergenic non-protein coding RNA 298 [Gene - HGNC]
  • LINC00299:long intergenic non-protein coding RNA 299 [Gene - HGNC]
  • LINC00487:long intergenic non-protein coding RNA 487 [Gene - HGNC]
  • LINC00570:long intergenic non-protein coding RNA 570 [Gene - HGNC]
  • MBOAT2:membrane bound O-acyltransferase domain containing 2 [Gene - OMIM - HGNC]
  • MIR3125:microRNA 3125 [Gene - HGNC]
  • MIR3681:microRNA 3681 [Gene - HGNC]
  • MIR4261:microRNA 4261 [Gene - HGNC]
  • MIR4262:microRNA 4262 [Gene - HGNC]
  • MIR4429:microRNA 4429 [Gene - HGNC]
  • MIR548S:microRNA 548s [Gene - HGNC]
  • MIR7515:microRNA 7515 [Gene - HGNC]
  • NRIR:negative regulator of interferon response [Gene - OMIM - HGNC]
  • NTSR2:neurotensin receptor 2 [Gene - OMIM - HGNC]
  • NOL10:nucleolar protein 10 [Gene - OMIM - HGNC]
  • ODC1:ornithine decarboxylase 1 [Gene - OMIM - HGNC]
  • KCNF1:potassium voltage-gated channel modifier subfamily F member 1 [Gene - OMIM - HGNC]
  • PDIA6:protein disulfide isomerase family A member 6 [Gene - OMIM - HGNC]
  • RSAD2:radical S-adenosyl methionine domain containing 2 [Gene - OMIM - HGNC]
  • RRM2:ribonucleotide reductase regulatory subunit M2 [Gene - OMIM - HGNC]
  • RNF144A:ring finger protein 144A [Gene - OMIM - HGNC]
  • SNORA80B:small nucleolar RNA, H/ACA box 80B [Gene - HGNC]
  • SLC66A3:solute carrier family 66 member 3 [Gene - HGNC]
  • TRIB2:tribbles pseudokinase 2 [Gene - OMIM - HGNC]
  • YWHAQ:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta [Gene - OMIM - HGNC]
  • LOC100506274:uncharacterized LOC100506274 [Gene]
  • LOC100506405:uncharacterized LOC100506405 [Gene]
  • LOC100506474:uncharacterized LOC100506474 [Gene]
  • LOC101929452:uncharacterized LOC101929452 [Gene]
  • LOC101929551:uncharacterized LOC101929551 [Gene]
  • LOC101929752:uncharacterized LOC101929752 [Gene]
  • LOC105373414:uncharacterized LOC105373414 [Gene]
  • LOC105373418:uncharacterized LOC105373418 [Gene]
  • LOC105373438:uncharacterized LOC105373438 [Gene]
  • LOC653602:uncharacterized LOC653602 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2p25.2-24.3
Genomic location:
Preferred name:
GRCh38/hg38 2p25.2-24.3(chr2:6531172-16103799)x1
HGVS:
  • NC_000002.12:g.(?_6531172)_(16103799_?)del
  • NC_000002.10:g.(?_6588755)_(16161372_?)del
  • NC_000002.11:g.(?_6671304)_(16243921_?)del
Links:
dbVar: nssv577684; dbVar: nsv532646
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
SCV000081341ISCA site 17

See additional submitters

criteria provided, single submitter

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

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

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

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

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 17, SCV000081341.4

#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