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GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000135535.9

Allele description [Variation Report for GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3]

GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3

Genes:
  • ADGRD1-AS1:ADGRD1 antisense RNA 1 [Gene - HGNC]
  • LOC130009112:ATAC-STARR-seq lymphoblastoid active region 7271 [Gene]
  • LOC130009114:ATAC-STARR-seq lymphoblastoid active region 7272 [Gene]
  • LOC130009115:ATAC-STARR-seq lymphoblastoid active region 7273 [Gene]
  • LOC130009116:ATAC-STARR-seq lymphoblastoid active region 7274 [Gene]
  • LOC130009119:ATAC-STARR-seq lymphoblastoid active region 7275 [Gene]
  • LOC130009123:ATAC-STARR-seq lymphoblastoid active region 7276 [Gene]
  • LOC130009125:ATAC-STARR-seq lymphoblastoid active region 7277 [Gene]
  • LOC130009126:ATAC-STARR-seq lymphoblastoid active region 7278 [Gene]
  • LOC130009127:ATAC-STARR-seq lymphoblastoid active region 7279 [Gene]
  • LOC130009128:ATAC-STARR-seq lymphoblastoid active region 7280 [Gene]
  • LOC130009129:ATAC-STARR-seq lymphoblastoid active region 7281 [Gene]
  • LOC130009130:ATAC-STARR-seq lymphoblastoid active region 7282 [Gene]
  • LOC130009131:ATAC-STARR-seq lymphoblastoid active region 7283 [Gene]
  • LOC130009133:ATAC-STARR-seq lymphoblastoid active region 7284 [Gene]
  • LOC130009134:ATAC-STARR-seq lymphoblastoid active region 7285 [Gene]
  • LOC130009137:ATAC-STARR-seq lymphoblastoid active region 7287 [Gene]
  • LOC130009139:ATAC-STARR-seq lymphoblastoid active region 7288 [Gene]
  • LOC130009140:ATAC-STARR-seq lymphoblastoid active region 7289 [Gene]
  • LOC130009141:ATAC-STARR-seq lymphoblastoid active region 7292 [Gene]
  • LOC130009147:ATAC-STARR-seq lymphoblastoid active region 7293 [Gene]
  • LOC130009148:ATAC-STARR-seq lymphoblastoid active region 7294 [Gene]
  • LOC130009149:ATAC-STARR-seq lymphoblastoid active region 7296 [Gene]
  • LOC130009150:ATAC-STARR-seq lymphoblastoid active region 7297 [Gene]
  • LOC130009151:ATAC-STARR-seq lymphoblastoid active region 7298 [Gene]
  • LOC130009152:ATAC-STARR-seq lymphoblastoid active region 7300 [Gene]
  • LOC130009153:ATAC-STARR-seq lymphoblastoid active region 7302 [Gene]
  • LOC130009154:ATAC-STARR-seq lymphoblastoid active region 7303 [Gene]
  • LOC130009155:ATAC-STARR-seq lymphoblastoid active region 7304 [Gene]
  • LOC130009156:ATAC-STARR-seq lymphoblastoid active region 7305 [Gene]
  • LOC130009158:ATAC-STARR-seq lymphoblastoid active region 7306 [Gene]
  • LOC130009159:ATAC-STARR-seq lymphoblastoid active region 7308 [Gene]
  • LOC130009161:ATAC-STARR-seq lymphoblastoid active region 7311 [Gene]
  • LOC130009163:ATAC-STARR-seq lymphoblastoid active region 7314 [Gene]
  • LOC130009164:ATAC-STARR-seq lymphoblastoid active region 7318 [Gene]
  • LOC130009172:ATAC-STARR-seq lymphoblastoid active region 7319 [Gene]
  • LOC130009173:ATAC-STARR-seq lymphoblastoid active region 7320 [Gene]
  • LOC130009176:ATAC-STARR-seq lymphoblastoid active region 7321 [Gene]
  • LOC130009180:ATAC-STARR-seq lymphoblastoid active region 7322 [Gene]
  • LOC130009182:ATAC-STARR-seq lymphoblastoid active region 7324 [Gene]
  • LOC130009185:ATAC-STARR-seq lymphoblastoid active region 7326 [Gene]
  • LOC130009187:ATAC-STARR-seq lymphoblastoid active region 7327 [Gene]
  • LOC130009188:ATAC-STARR-seq lymphoblastoid active region 7328 [Gene]
  • LOC130009189:ATAC-STARR-seq lymphoblastoid active region 7329 [Gene]
  • LOC130009190:ATAC-STARR-seq lymphoblastoid active region 7331 [Gene]
  • LOC130009191:ATAC-STARR-seq lymphoblastoid active region 7333 [Gene]
  • LOC130009192:ATAC-STARR-seq lymphoblastoid active region 7334 [Gene]
  • LOC130009193:ATAC-STARR-seq lymphoblastoid active region 7335 [Gene]
  • LOC130009194:ATAC-STARR-seq lymphoblastoid active region 7336 [Gene]
  • LOC130009195:ATAC-STARR-seq lymphoblastoid active region 7337 [Gene]
  • LOC130009196:ATAC-STARR-seq lymphoblastoid active region 7338 [Gene]
  • LOC130009197:ATAC-STARR-seq lymphoblastoid active region 7339 [Gene]
  • LOC130009198:ATAC-STARR-seq lymphoblastoid active region 7340 [Gene]
  • LOC130009199:ATAC-STARR-seq lymphoblastoid active region 7341 [Gene]
  • LOC130009201:ATAC-STARR-seq lymphoblastoid active region 7342 [Gene]
  • LOC130009202:ATAC-STARR-seq lymphoblastoid active region 7343 [Gene]
  • LOC130009203:ATAC-STARR-seq lymphoblastoid active region 7345 [Gene]
  • LOC130009204:ATAC-STARR-seq lymphoblastoid active region 7346 [Gene]
  • LOC130009205:ATAC-STARR-seq lymphoblastoid active region 7347 [Gene]
  • LOC130009209:ATAC-STARR-seq lymphoblastoid active region 7349 [Gene]
  • LOC130009210:ATAC-STARR-seq lymphoblastoid active region 7350 [Gene]
  • LOC130009211:ATAC-STARR-seq lymphoblastoid active region 7351 [Gene]
  • LOC130009212:ATAC-STARR-seq lymphoblastoid active region 7352 [Gene]
  • LOC130009213:ATAC-STARR-seq lymphoblastoid active region 7353 [Gene]
  • LOC130009214:ATAC-STARR-seq lymphoblastoid active region 7354 [Gene]
  • LOC130009215:ATAC-STARR-seq lymphoblastoid active region 7355 [Gene]
  • LOC130009216:ATAC-STARR-seq lymphoblastoid active region 7356 [Gene]
  • LOC130009217:ATAC-STARR-seq lymphoblastoid active region 7357 [Gene]
  • LOC130009218:ATAC-STARR-seq lymphoblastoid active region 7358 [Gene]
  • LOC130009219:ATAC-STARR-seq lymphoblastoid active region 7359 [Gene]
  • LOC130009220:ATAC-STARR-seq lymphoblastoid active region 7360 [Gene]
  • LOC130009222:ATAC-STARR-seq lymphoblastoid active region 7361 [Gene]
  • LOC130009223:ATAC-STARR-seq lymphoblastoid active region 7362 [Gene]
  • LOC130009224:ATAC-STARR-seq lymphoblastoid active region 7363 [Gene]
  • LOC130009225:ATAC-STARR-seq lymphoblastoid active region 7364 [Gene]
  • LOC130009226:ATAC-STARR-seq lymphoblastoid active region 7365 [Gene]
  • LOC130009227:ATAC-STARR-seq lymphoblastoid active region 7366 [Gene]
  • LOC130009229:ATAC-STARR-seq lymphoblastoid active region 7367 [Gene]
  • LOC130009230:ATAC-STARR-seq lymphoblastoid active region 7368 [Gene]
  • LOC130009231:ATAC-STARR-seq lymphoblastoid active region 7369 [Gene]
  • LOC130009236:ATAC-STARR-seq lymphoblastoid active region 7371 [Gene]
  • LOC130009237:ATAC-STARR-seq lymphoblastoid active region 7372 [Gene]
  • LOC130009238:ATAC-STARR-seq lymphoblastoid active region 7373 [Gene]
  • LOC130009247:ATAC-STARR-seq lymphoblastoid active region 7375 [Gene]
  • LOC130009253:ATAC-STARR-seq lymphoblastoid active region 7376 [Gene]
  • LOC130009254:ATAC-STARR-seq lymphoblastoid active region 7378 [Gene]
  • LOC130009255:ATAC-STARR-seq lymphoblastoid active region 7379 [Gene]
  • LOC130009256:ATAC-STARR-seq lymphoblastoid active region 7380 [Gene]
  • LOC130009259:ATAC-STARR-seq lymphoblastoid active region 7381 [Gene]
  • LOC130009262:ATAC-STARR-seq lymphoblastoid active region 7382 [Gene]
  • LOC130009263:ATAC-STARR-seq lymphoblastoid active region 7383 [Gene]
  • LOC130009264:ATAC-STARR-seq lymphoblastoid active region 7384 [Gene]
  • LOC130009265:ATAC-STARR-seq lymphoblastoid active region 7385 [Gene]
  • LOC130009267:ATAC-STARR-seq lymphoblastoid active region 7386 [Gene]
  • LOC130009270:ATAC-STARR-seq lymphoblastoid active region 7387 [Gene]
  • LOC130009271:ATAC-STARR-seq lymphoblastoid active region 7388 [Gene]
  • LOC130009272:ATAC-STARR-seq lymphoblastoid active region 7389 [Gene]
  • LOC130009273:ATAC-STARR-seq lymphoblastoid active region 7390 [Gene]
  • LOC130009274:ATAC-STARR-seq lymphoblastoid active region 7391 [Gene]
  • LOC130009277:ATAC-STARR-seq lymphoblastoid active region 7392 [Gene]
  • LOC130009280:ATAC-STARR-seq lymphoblastoid active region 7393 [Gene]
  • LOC130009282:ATAC-STARR-seq lymphoblastoid active region 7395 [Gene]
  • LOC130009283:ATAC-STARR-seq lymphoblastoid active region 7397 [Gene]
  • LOC130009285:ATAC-STARR-seq lymphoblastoid active region 7398 [Gene]
  • LOC130009286:ATAC-STARR-seq lymphoblastoid active region 7399 [Gene]
  • LOC130009289:ATAC-STARR-seq lymphoblastoid active region 7400 [Gene]
  • LOC130009110:ATAC-STARR-seq lymphoblastoid silent region 5046 [Gene]
  • LOC130009111:ATAC-STARR-seq lymphoblastoid silent region 5047 [Gene]
  • LOC130009113:ATAC-STARR-seq lymphoblastoid silent region 5048 [Gene]
  • LOC130009117:ATAC-STARR-seq lymphoblastoid silent region 5049 [Gene]
  • LOC130009118:ATAC-STARR-seq lymphoblastoid silent region 5050 [Gene]
  • LOC130009120:ATAC-STARR-seq lymphoblastoid silent region 5053 [Gene]
  • LOC130009121:ATAC-STARR-seq lymphoblastoid silent region 5054 [Gene]
  • LOC130009122:ATAC-STARR-seq lymphoblastoid silent region 5055 [Gene]
  • LOC130009124:ATAC-STARR-seq lymphoblastoid silent region 5056 [Gene]
  • LOC130009132:ATAC-STARR-seq lymphoblastoid silent region 5057 [Gene]
  • LOC130009135:ATAC-STARR-seq lymphoblastoid silent region 5058 [Gene]
  • LOC130009136:ATAC-STARR-seq lymphoblastoid silent region 5059 [Gene]
  • LOC130009138:ATAC-STARR-seq lymphoblastoid silent region 5060 [Gene]
  • LOC130009142:ATAC-STARR-seq lymphoblastoid silent region 5061 [Gene]
  • LOC130009143:ATAC-STARR-seq lymphoblastoid silent region 5062 [Gene]
  • LOC130009144:ATAC-STARR-seq lymphoblastoid silent region 5063 [Gene]
  • LOC130009145:ATAC-STARR-seq lymphoblastoid silent region 5064 [Gene]
  • LOC130009146:ATAC-STARR-seq lymphoblastoid silent region 5065 [Gene]
  • LOC130009157:ATAC-STARR-seq lymphoblastoid silent region 5067 [Gene]
  • LOC130009160:ATAC-STARR-seq lymphoblastoid silent region 5068 [Gene]
  • LOC130009162:ATAC-STARR-seq lymphoblastoid silent region 5070 [Gene]
  • LOC130009165:ATAC-STARR-seq lymphoblastoid silent region 5072 [Gene]
  • LOC130009166:ATAC-STARR-seq lymphoblastoid silent region 5073 [Gene]
  • LOC130009167:ATAC-STARR-seq lymphoblastoid silent region 5074 [Gene]
  • LOC130009168:ATAC-STARR-seq lymphoblastoid silent region 5075 [Gene]
  • LOC130009169:ATAC-STARR-seq lymphoblastoid silent region 5076 [Gene]
  • LOC130009170:ATAC-STARR-seq lymphoblastoid silent region 5077 [Gene]
  • LOC130009171:ATAC-STARR-seq lymphoblastoid silent region 5078 [Gene]
  • LOC130009174:ATAC-STARR-seq lymphoblastoid silent region 5079 [Gene]
  • LOC130009175:ATAC-STARR-seq lymphoblastoid silent region 5080 [Gene]
  • LOC130009177:ATAC-STARR-seq lymphoblastoid silent region 5081 [Gene]
  • LOC130009178:ATAC-STARR-seq lymphoblastoid silent region 5082 [Gene]
  • LOC130009179:ATAC-STARR-seq lymphoblastoid silent region 5083 [Gene]
  • LOC130009181:ATAC-STARR-seq lymphoblastoid silent region 5084 [Gene]
  • LOC130009183:ATAC-STARR-seq lymphoblastoid silent region 5085 [Gene]
  • LOC130009184:ATAC-STARR-seq lymphoblastoid silent region 5086 [Gene]
  • LOC130009186:ATAC-STARR-seq lymphoblastoid silent region 5087 [Gene]
  • LOC130009200:ATAC-STARR-seq lymphoblastoid silent region 5088 [Gene]
  • LOC130009206:ATAC-STARR-seq lymphoblastoid silent region 5090 [Gene]
  • LOC130009207:ATAC-STARR-seq lymphoblastoid silent region 5091 [Gene]
  • LOC130009208:ATAC-STARR-seq lymphoblastoid silent region 5092 [Gene]
  • LOC130009221:ATAC-STARR-seq lymphoblastoid silent region 5096 [Gene]
  • LOC130009228:ATAC-STARR-seq lymphoblastoid silent region 5098 [Gene]
  • LOC130009232:ATAC-STARR-seq lymphoblastoid silent region 5099 [Gene]
  • LOC130009233:ATAC-STARR-seq lymphoblastoid silent region 5101 [Gene]
  • LOC130009234:ATAC-STARR-seq lymphoblastoid silent region 5102 [Gene]
  • LOC130009235:ATAC-STARR-seq lymphoblastoid silent region 5105 [Gene]
  • LOC130009239:ATAC-STARR-seq lymphoblastoid silent region 5106 [Gene]
  • LOC130009240:ATAC-STARR-seq lymphoblastoid silent region 5107 [Gene]
  • LOC130009241:ATAC-STARR-seq lymphoblastoid silent region 5108 [Gene]
  • LOC130009242:ATAC-STARR-seq lymphoblastoid silent region 5109 [Gene]
  • LOC130009243:ATAC-STARR-seq lymphoblastoid silent region 5110 [Gene]
  • LOC130009244:ATAC-STARR-seq lymphoblastoid silent region 5111 [Gene]
  • LOC130009245:ATAC-STARR-seq lymphoblastoid silent region 5112 [Gene]
  • LOC130009246:ATAC-STARR-seq lymphoblastoid silent region 5113 [Gene]
  • LOC130009248:ATAC-STARR-seq lymphoblastoid silent region 5114 [Gene]
  • LOC130009249:ATAC-STARR-seq lymphoblastoid silent region 5115 [Gene]
  • LOC130009250:ATAC-STARR-seq lymphoblastoid silent region 5116 [Gene]
  • LOC130009251:ATAC-STARR-seq lymphoblastoid silent region 5117 [Gene]
  • LOC130009252:ATAC-STARR-seq lymphoblastoid silent region 5118 [Gene]
  • LOC130009257:ATAC-STARR-seq lymphoblastoid silent region 5119 [Gene]
  • LOC130009258:ATAC-STARR-seq lymphoblastoid silent region 5120 [Gene]
  • LOC130009260:ATAC-STARR-seq lymphoblastoid silent region 5121 [Gene]
  • LOC130009261:ATAC-STARR-seq lymphoblastoid silent region 5122 [Gene]
  • LOC130009266:ATAC-STARR-seq lymphoblastoid silent region 5123 [Gene]
  • LOC130009268:ATAC-STARR-seq lymphoblastoid silent region 5124 [Gene]
  • LOC130009269:ATAC-STARR-seq lymphoblastoid silent region 5125 [Gene]
  • LOC130009275:ATAC-STARR-seq lymphoblastoid silent region 5128 [Gene]
  • LOC130009276:ATAC-STARR-seq lymphoblastoid silent region 5129 [Gene]
  • LOC130009278:ATAC-STARR-seq lymphoblastoid silent region 5130 [Gene]
  • LOC130009279:ATAC-STARR-seq lymphoblastoid silent region 5131 [Gene]
  • LOC130009281:ATAC-STARR-seq lymphoblastoid silent region 5132 [Gene]
  • LOC130009284:ATAC-STARR-seq lymphoblastoid silent region 5134 [Gene]
  • LOC130009287:ATAC-STARR-seq lymphoblastoid silent region 5135 [Gene]
  • LOC130009288:ATAC-STARR-seq lymphoblastoid silent region 5136 [Gene]
  • ATP6V0A2:ATPase H+ transporting V0 subunit a2 [Gene - OMIM - HGNC]
  • LOC126861670:BRD4-independent group 4 enhancer GRCh37_chr12:125351043-125352242 [Gene]
  • LOC126861673:BRD4-independent group 4 enhancer GRCh37_chr12:126022594-126023793 [Gene]
  • LOC126861675:BRD4-independent group 4 enhancer GRCh37_chr12:126932549-126933748 [Gene]
  • LOC126861678:BRD4-independent group 4 enhancer GRCh37_chr12:127386923-127388122 [Gene]
  • LOC126861681:BRD4-independent group 4 enhancer GRCh37_chr12:128107825-128109024 [Gene]
  • LOC126861683:BRD4-independent group 4 enhancer GRCh37_chr12:129141297-129142496 [Gene]
  • LOC112163542:BRD4-independent group 4 enhancer GRCh37_chr12:129281709-129282908 [Gene]
  • LOC126861685:BRD4-independent group 4 enhancer GRCh37_chr12:129441173-129442372 [Gene]
  • LOC126861686:BRD4-independent group 4 enhancer GRCh37_chr12:129694216-129695415 [Gene]
  • LOC126861689:BRD4-independent group 4 enhancer GRCh37_chr12:130876795-130877994 [Gene]
  • LOC126861693:BRD4-independent group 4 enhancer GRCh37_chr12:132221080-132222279 [Gene]
  • LOC126861696:BRD4-independent group 4 enhancer GRCh37_chr12:132508440-132509639 [Gene]
  • LOC126861700:BRD4-independent group 4 enhancer GRCh37_chr12:133412143-133413342 [Gene]
  • LOC126861701:BRD4-independent group 4 enhancer GRCh37_chr12:133433141-133434340 [Gene]
  • BRI3BP:BRI3 binding protein [Gene - OMIM - HGNC]
  • LOC126861664:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 [Gene]
  • LOC126861665:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124143885-124145084 [Gene]
  • LOC126861666:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124232793-124233992 [Gene]
  • LOC126861667:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124402328-124403527 [Gene]
  • LOC126861668:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124988989-124990188 [Gene]
  • LOC126861676:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:127226104-127227303 [Gene]
  • LOC126861682:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:128596315-128597514 [Gene]
  • LOC126861684:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:129238411-129239610 [Gene]
  • LOC126861687:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:130091629-130092828 [Gene]
  • LOC126861690:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:131047373-131048572 [Gene]
  • LOC126861691:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:131495017-131496216 [Gene]
  • LOC126861694:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132269252-132270451 [Gene]
  • LOC126861695:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132490339-132491538 [Gene]
  • LOC126861699:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132920815-132922014 [Gene]
  • CHFR-DT:CHFR divergent transcript [Gene - HGNC]
  • LOC116268452:CRISPRi-validated cis-regulatory element chr12.4732 [Gene]
  • LOC116268453:CRISPRi-validated cis-regulatory element chr12.4740 [Gene]
  • DDX51:DEAD-box helicase 51 [Gene - HGNC]
  • DDX55:DEAD-box helicase 55 [Gene - OMIM - HGNC]
  • DHX37:DEAH-box helicase 37 [Gene - OMIM - HGNC]
  • POLE:DNA polymerase epsilon, catalytic subunit [Gene - OMIM - HGNC]
  • EP400:E1A binding protein p400 [Gene - OMIM - HGNC]
  • FZD10-AS1:FZD10 antisense divergent transcript [Gene - HGNC]
  • GALNT9-AS1:GALNT9 antisense RNA 1 [Gene - HGNC]
  • LOC126861669:MED14-independent group 3 enhancer GRCh37_chr12:125117605-125118804 [Gene]
  • LOC126861672:MED14-independent group 3 enhancer GRCh37_chr12:125422569-125423768 [Gene]
  • LOC126861679:MED14-independent group 3 enhancer GRCh37_chr12:127610351-127611550 [Gene]
  • LOC126861688:MED14-independent group 3 enhancer GRCh37_chr12:130337885-130339084 [Gene]
  • LOC126861692:MED14-independent group 3 enhancer GRCh37_chr12:132204952-132206151 [Gene]
  • LOC129390585:MPRA-validated peak2030 silencer [Gene]
  • LOC129390586:MPRA-validated peak2031 silencer [Gene]
  • LOC129390587:MPRA-validated peak2032 silencer [Gene]
  • LOC129390588:MPRA-validated peak2033 silencer [Gene]
  • LOC129390589:MPRA-validated peak2034 silencer [Gene]
  • LOC129390590:MPRA-validated peak2036 silencer [Gene]
  • LOC129390591:MPRA-validated peak2041 silencer [Gene]
  • LOC129390592:MPRA-validated peak2042 silencer [Gene]
  • LOC129390593:MPRA-validated peak2046 silencer [Gene]
  • LOC129390594:MPRA-validated peak2052 silencer [Gene]
  • LOC129390595:MPRA-validated peak2056 silencer [Gene]
  • LOC110599568:MS43a minisatellite repeat instability region [Gene]
  • LOC132090035:Neanderthal introgressed variant-containing enhancer experimental_25120 [Gene]
  • LOC132090036:Neanderthal introgressed variant-containing enhancer experimental_25196 [Gene]
  • LOC132090037:Neanderthal introgressed variant-containing enhancer experimental_25236 [Gene]
  • LOC132090039:Neanderthal introgressed variant-containing enhancer experimental_25284 [Gene]
  • LOC132090040:Neanderthal introgressed variant-containing enhancer experimental_25393 [Gene]
  • LOC132090041:Neanderthal introgressed variant-containing enhancer experimental_25513 [Gene]
  • LOC132090042:Neanderthal introgressed variant-containing enhancer experimental_25552 [Gene]
  • LOC132090043:Neanderthal introgressed variant-containing enhancer experimental_25563 [Gene]
  • LOC132090044:Neanderthal introgressed variant-containing enhancer experimental_25699 [Gene]
  • LOC132090045:Neanderthal introgressed variant-containing enhancer experimental_25704 [Gene]
  • LOC132090046:Neanderthal introgressed variant-containing enhancer experimental_25722 [Gene]
  • LOC132090047:Neanderthal introgressed variant-containing enhancer experimental_25764 [Gene]
  • LOC132090048:Neanderthal introgressed variant-containing enhancer experimental_25789 [Gene]
  • LOC132090049:Neanderthal introgressed variant-containing enhancer experimental_25816 [Gene]
  • LOC132090050:Neanderthal introgressed variant-containing enhancer experimental_25825 [Gene]
  • LOC132090051:Neanderthal introgressed variant-containing enhancer experimental_25828 [Gene]
  • LOC132090052:Neanderthal introgressed variant-containing enhancer experimental_25829 [Gene]
  • LOC132090053:Neanderthal introgressed variant-containing enhancer experimental_25830 [Gene]
  • LOC132090054:Neanderthal introgressed variant-containing enhancer experimental_25849 [Gene]
  • LOC132090055:Neanderthal introgressed variant-containing enhancer experimental_25887 [Gene]
  • LOC132090056:Neanderthal introgressed variant-containing enhancer experimental_25901 [Gene]
  • LOC132090057:Neanderthal introgressed variant-containing enhancer experimental_25923 [Gene]
  • LOC132090058:Neanderthal introgressed variant-containing enhancer experimental_25928 [Gene]
  • LOC132090861:Neanderthal introgressed variant-containing enhancer experimental_25936 [Gene]
  • LOC132090059:Neanderthal introgressed variant-containing enhancer experimental_25941 [Gene]
  • LOC132090060:Neanderthal introgressed variant-containing enhancer experimental_26027 [Gene]
  • LOC132090862:Neanderthal introgressed variant-containing enhancer experimental_26051 [Gene]
  • LOC132090061:Neanderthal introgressed variant-containing enhancer experimental_26074 [Gene]
  • LOC132090863:Neanderthal introgressed variant-containing enhancer experimental_26180 [Gene]
  • LOC132090062:Neanderthal introgressed variant-containing enhancer experimental_26217 [Gene]
  • LOC132090063:Neanderthal introgressed variant-containing enhancer experimental_26228 [Gene]
  • LOC132090064:Neanderthal introgressed variant-containing enhancer experimental_26242 [Gene]
  • LOC132211108:Neanderthal introgressed variant-containing enhancers experimental_25486 and experimental_25487 [Gene]
  • LOC112163540:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:125400549-125401748 [Gene]
  • LOC126861671:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:125412388-125413587 [Gene]
  • LOC126861674:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:126535879-126537078 [Gene]
  • LOC126861677:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:127256382-127257581 [Gene]
  • LOC126861680:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:128043830-128045029 [Gene]
  • LOC126861697:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:132863043-132864242 [Gene]
  • LOC126861698:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:132903614-132904813 [Gene]
  • LOC126861702:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:133731795-133732994 [Gene]
  • PGAM5:PGAM family member 5, mitochondrial serine/threonine protein phosphatase [Gene - OMIM - HGNC]
  • RAN:RAN, member RAS oncogene family [Gene - OMIM - HGNC]
  • RIMBP2:RIMS binding protein 2 [Gene - OMIM - HGNC]
  • RILPL1:Rab interacting lysosomal protein like 1 [Gene - OMIM - HGNC]
  • LOC124849283:Sharpr-MPRA regulatory region 11699 [Gene]
  • LOC112163537:Sharpr-MPRA regulatory region 11802 [Gene]
  • LOC124849277:Sharpr-MPRA regulatory region 1212 [Gene]
  • LOC112163538:Sharpr-MPRA regulatory region 12812 [Gene]
  • LOC124849274:Sharpr-MPRA regulatory region 13038 [Gene]
  • LOC112163541:Sharpr-MPRA regulatory region 13079 [Gene]
  • LOC124849281:Sharpr-MPRA regulatory region 13155 [Gene]
  • LOC124849273:Sharpr-MPRA regulatory region 13563 [Gene]
  • LOC124849290:Sharpr-MPRA regulatory region 13568 [Gene]
  • LOC124849284:Sharpr-MPRA regulatory region 14372 [Gene]
  • LOC121466726:Sharpr-MPRA regulatory region 1535 [Gene]
  • LOC124849287:Sharpr-MPRA regulatory region 1775 [Gene]
  • LOC124849278:Sharpr-MPRA regulatory region 2215 [Gene]
  • LOC124849275:Sharpr-MPRA regulatory region 3491 [Gene]
  • LOC112163539:Sharpr-MPRA regulatory region 4504 [Gene]
  • LOC121466727:Sharpr-MPRA regulatory region 458 [Gene]
  • LOC112163546:Sharpr-MPRA regulatory region 4789 [Gene]
  • LOC112163535:Sharpr-MPRA regulatory region 5794 [Gene]
  • LOC121838569:Sharpr-MPRA regulatory region 612 [Gene]
  • LOC112163547:Sharpr-MPRA regulatory region 713 [Gene]
  • LOC124849280:Sharpr-MPRA regulatory region 7999 [Gene]
  • LOC124849288:Sharpr-MPRA regulatory region 8404 [Gene]
  • LOC124849286:Sharpr-MPRA regulatory region 8535 [Gene]
  • LOC124849282:Sharpr-MPRA regulatory region 9233 [Gene]
  • LOC113939934:Sharpr-MPRA regulatory region 9406 [Gene]
  • LOC124849291:Sharpr-MPRA regulatory region 9648 [Gene]
  • LOC124849289:Sharpr-MPRA regulatory region 9670 [Gene]
  • LOC121838570:Sharpr-MPRA regulatory region 967 [Gene]
  • LOC124849279:Sharpr-MPRA regulatory region 9680 [Gene]
  • LOC121466725:Sharpr-MPRA regulatory region 979 [Gene]
  • LOC121838571:Sharpr-MPRA regulatory region 9872 [Gene]
  • TMED2-DT:TMED2 divergent transcript [Gene - HGNC]
  • TMEM132D-AS1:TMEM132D antisense RNA 1 [Gene - HGNC]
  • TMEM132D-AS2:TMEM132D antisense RNA 2 [Gene - HGNC]
  • THRIL:TNF and HNRNPL related immunoregulatory long non-coding RNA [Gene - OMIM - HGNC]
  • ZNF664-RFLNA:ZNF664-RFLNA readthrough [Gene]
  • ZNF84-DT:ZNF84 divergent transcript [Gene - HGNC]
  • AACS:acetoacetyl-CoA synthetase [Gene - OMIM - HGNC]
  • ADGRD1:adhesion G protein-coupled receptor D1 [Gene - OMIM - HGNC]
  • ANKLE2:ankyrin repeat and LEM domain containing 2 [Gene - OMIM - HGNC]
  • CHFR:checkpoint with forkhead and ring finger domains [Gene - OMIM - HGNC]
  • CCDC92:coiled-coil domain containing 92 [Gene - HGNC]
  • LOC106783497:conserved acetylation island sequence 32 enhancer [Gene]
  • DNAH10OS:dynein axonemal heavy chain 10 opposite strand [Gene - HGNC]
  • DNAH10:dynein axonemal heavy chain 10 [Gene - OMIM - HGNC]
  • EIF2B1:eukaryotic translation initiation factor 2B subunit alpha [Gene - OMIM - HGNC]
  • FBRSL1:fibrosin like 1 [Gene - OMIM - HGNC]
  • FZD10:frizzled class receptor 10 [Gene - OMIM - HGNC]
  • GTF2H3:general transcription factor IIH subunit 3 [Gene - OMIM - HGNC]
  • GLT1D1:glycosyltransferase 1 domain containing 1 [Gene - HGNC]
  • GOLGA3:golgin A3 [Gene - OMIM - HGNC]
  • LRCOL1:leucine rich colipase like 1 [Gene - HGNC]
  • LINC01257:long intergenic non-protein coding RNA 1257 [Gene - HGNC]
  • LINC02347:long intergenic non-protein coding RNA 2347 [Gene - HGNC]
  • LINC02350:long intergenic non-protein coding RNA 2350 [Gene - HGNC]
  • LINC02359:long intergenic non-protein coding RNA 2359 [Gene - HGNC]
  • LINC02361:long intergenic non-protein coding RNA 2361 [Gene - HGNC]
  • LINC02368:long intergenic non-protein coding RNA 2368 [Gene - HGNC]
  • LINC02369:long intergenic non-protein coding RNA 2369 [Gene - HGNC]
  • LINC02370:long intergenic non-protein coding RNA 2370 [Gene - HGNC]
  • LINC02372:long intergenic non-protein coding RNA 2372 [Gene - HGNC]
  • LINC02375:long intergenic non-protein coding RNA 2375 [Gene - HGNC]
  • LINC02376:long intergenic non-protein coding RNA 2376 [Gene - HGNC]
  • LINC02393:long intergenic non-protein coding RNA 2393 [Gene - HGNC]
  • LINC02405:long intergenic non-protein coding RNA 2405 [Gene - HGNC]
  • LINC02411:long intergenic non-protein coding RNA 2411 [Gene - HGNC]
  • LINC02414:long intergenic non-protein coding RNA 2414 [Gene - HGNC]
  • LINC02415:long intergenic non-protein coding RNA 2415 [Gene - HGNC]
  • LINC02418:long intergenic non-protein coding RNA 2418 [Gene - HGNC]
  • LINC02419:long intergenic non-protein coding RNA 2419 [Gene - HGNC]
  • LINC02441:long intergenic non-protein coding RNA 2441 [Gene - HGNC]
  • LINC02824:long intergenic non-protein coding RNA 2824 [Gene - HGNC]
  • LINC02825:long intergenic non-protein coding RNA 2825 [Gene - HGNC]
  • LINC02826:long intergenic non-protein coding RNA 2826 [Gene - HGNC]
  • LINC00507:long intergenic non-protein coding RNA 507 [Gene - HGNC]
  • LINC00508:long intergenic non-protein coding RNA 508 [Gene - HGNC]
  • LINC00939:long intergenic non-protein coding RNA 939 [Gene - HGNC]
  • LINC00943:long intergenic non-protein coding RNA 943 [Gene - HGNC]
  • LINC00944:long intergenic non-protein coding RNA 944 [Gene - HGNC]
  • MMP17:matrix metallopeptidase 17 [Gene - OMIM - HGNC]
  • MIR3612:microRNA 3612 [Gene - HGNC]
  • MIR3908:microRNA 3908 [Gene - HGNC]
  • MIR5188:microRNA 5188 [Gene - HGNC]
  • MIR6763:microRNA 6763 [Gene - HGNC]
  • MIR6880:microRNA 6880 [Gene - HGNC]
  • MUC8:mucin 8 [Gene - OMIM - HGNC]
  • NCOR2:nuclear receptor corepressor 2 [Gene - OMIM - HGNC]
  • NOC4L:nucleolar complex associated 4 homolog [Gene - OMIM - HGNC]
  • PXMP2:peroxisomal membrane protein 2 [Gene - OMIM - HGNC]
  • PIWIL1:piwi like RNA-mediated gene silencing 1 [Gene - OMIM - HGNC]
  • GALNT9:polypeptide N-acetylgalactosaminyltransferase 9 [Gene - OMIM - HGNC]
  • PUS1:pseudouridine synthase 1 [Gene - OMIM - HGNC]
  • P2RX2:purinergic receptor P2X 2 [Gene - OMIM - HGNC]
  • RFLNA:refilin A [Gene - OMIM - HGNC]
  • SCARB1:scavenger receptor class B member 1 [Gene - OMIM - HGNC]
  • SNORA49:small nucleolar RNA, H/ACA box 49 [Gene - HGNC]
  • SNORA9B:small nucleolar RNA, H/ACA box 9B [Gene - HGNC]
  • SLC15A4:solute carrier family 15 member 4 [Gene - OMIM - HGNC]
  • SFSWAP:splicing factor SWAP [Gene - OMIM - HGNC]
  • STX2:syntaxin 2 [Gene - OMIM - HGNC]
  • TRA-TGC3-2:tRNA-Ala (anticodon TGC) 3-2 [Gene - HGNC]
  • TRA-TGC4-1:tRNA-Ala (anticodon TGC) 4-1 [Gene - HGNC]
  • TRD-GTC2-10:tRNA-Asp (anticodon GTC) 2-10 [Gene - HGNC]
  • TRD-GTC2-9:tRNA-Asp (anticodon GTC) 2-9 [Gene - HGNC]
  • TRF-GAA1-4:tRNA-Phe (anticodon GAA) 1-4 [Gene - HGNC]
  • TCTN2:tectonic family member 2 [Gene - OMIM - HGNC]
  • TMED2:transmembrane p24 trafficking protein 2 [Gene - OMIM - HGNC]
  • TMEM132B:transmembrane protein 132B [Gene - OMIM - HGNC]
  • TMEM132C:transmembrane protein 132C [Gene - HGNC]
  • TMEM132D:transmembrane protein 132D [Gene - OMIM - HGNC]
  • UBC:ubiquitin C [Gene - OMIM - HGNC]
  • ULK1:unc-51 like autophagy activating kinase 1 [Gene - OMIM - HGNC]
  • LOC100128276:uncharacterized LOC100128276 [Gene]
  • LOC100996671:uncharacterized LOC100996671 [Gene]
  • LOC101927531:uncharacterized LOC101927531 [Gene]
  • LOC101928416:uncharacterized LOC101928416 [Gene]
  • LOC101929974:uncharacterized LOC101929974 [Gene]
  • LOC105370047:uncharacterized LOC105370047 [Gene]
  • LOC105370068:uncharacterized LOC105370068 [Gene]
  • ZNF10:zinc finger protein 10 [Gene - OMIM - HGNC]
  • ZNF140:zinc finger protein 140 [Gene - OMIM - HGNC]
  • ZNF268:zinc finger protein 268 [Gene - OMIM - HGNC]
  • ZNF26:zinc finger protein 26 [Gene - OMIM - HGNC]
  • ZNF605:zinc finger protein 605 [Gene - HGNC]
  • ZNF664:zinc finger protein 664 [Gene - OMIM - HGNC]
  • ZNF84:zinc finger protein 84 [Gene - OMIM - HGNC]
  • ZNF891:zinc finger protein 891 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12q24.31-24.33
Genomic location:
Preferred name:
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3
HGVS:
  • NC_000012.12:g.(?_123509825)_(133191400_?)dup
  • NC_000012.10:g.(?_122560325)_(132278059_?)dup
  • NC_000012.11:g.(?_123994372)_(133767986_?)dup
Links:
dbVar: nssv706208; dbVar: nsv530367
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
SCV000175409ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanmaternalyes1not 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, SCV000175409.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024