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GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2012
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:
RCV000138143.7

Allele description [Variation Report for GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1]

GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1

Genes:
  • LOC107303339:3p25 BRK1 Alu-mediated recombination region [Gene]
  • LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
  • LOC107303341:3p25 IRAK2 Alu-mediated recombination region [Gene]
  • LOC107303337:3p25 PRRT3 Alu-mediated recombination region [Gene]
  • LOC107303342:3p25 TatD DNase domain containing 2 Alu-mediated recombination region [Gene]
  • LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
  • OGG1:8-oxoguanine DNA glycosylase [Gene - OMIM - HGNC]
  • ARL8B:ADP ribosylation factor like GTPase 8B [Gene - OMIM - HGNC]
  • ARPC4-TTLL3:ARPC4-TTLL3 readthrough [Gene - HGNC]
  • LOC129936036:ATAC-STARR-seq lymphoblastoid active region 19334 [Gene]
  • LOC129936037:ATAC-STARR-seq lymphoblastoid active region 19335 [Gene]
  • LOC129936038:ATAC-STARR-seq lymphoblastoid active region 19336 [Gene]
  • LOC129936039:ATAC-STARR-seq lymphoblastoid active region 19337 [Gene]
  • LOC129936040:ATAC-STARR-seq lymphoblastoid active region 19338 [Gene]
  • LOC129936041:ATAC-STARR-seq lymphoblastoid active region 19339 [Gene]
  • LOC129936042:ATAC-STARR-seq lymphoblastoid active region 19340 [Gene]
  • LOC129936043:ATAC-STARR-seq lymphoblastoid active region 19342 [Gene]
  • LOC129936046:ATAC-STARR-seq lymphoblastoid active region 19343 [Gene]
  • LOC129936049:ATAC-STARR-seq lymphoblastoid active region 19345 [Gene]
  • LOC129936053:ATAC-STARR-seq lymphoblastoid active region 19346 [Gene]
  • LOC129936055:ATAC-STARR-seq lymphoblastoid active region 19347 [Gene]
  • LOC129936057:ATAC-STARR-seq lymphoblastoid active region 19348 [Gene]
  • LOC129936060:ATAC-STARR-seq lymphoblastoid active region 19349 [Gene]
  • LOC129936061:ATAC-STARR-seq lymphoblastoid active region 19350 [Gene]
  • LOC129936062:ATAC-STARR-seq lymphoblastoid active region 19351 [Gene]
  • LOC129936063:ATAC-STARR-seq lymphoblastoid active region 19352 [Gene]
  • LOC129936064:ATAC-STARR-seq lymphoblastoid active region 19353 [Gene]
  • LOC129936065:ATAC-STARR-seq lymphoblastoid active region 19354 [Gene]
  • LOC129936066:ATAC-STARR-seq lymphoblastoid active region 19355 [Gene]
  • LOC129936067:ATAC-STARR-seq lymphoblastoid active region 19356 [Gene]
  • LOC129936068:ATAC-STARR-seq lymphoblastoid active region 19357 [Gene]
  • LOC129936069:ATAC-STARR-seq lymphoblastoid active region 19358 [Gene]
  • LOC129936070:ATAC-STARR-seq lymphoblastoid active region 19359 [Gene]
  • LOC129936071:ATAC-STARR-seq lymphoblastoid active region 19360 [Gene]
  • LOC129936073:ATAC-STARR-seq lymphoblastoid active region 19362 [Gene]
  • LOC129936074:ATAC-STARR-seq lymphoblastoid active region 19363 [Gene]
  • LOC129936075:ATAC-STARR-seq lymphoblastoid active region 19364 [Gene]
  • LOC129936076:ATAC-STARR-seq lymphoblastoid active region 19365 [Gene]
  • LOC129936079:ATAC-STARR-seq lymphoblastoid active region 19366 [Gene]
  • LOC129936080:ATAC-STARR-seq lymphoblastoid active region 19368 [Gene]
  • LOC129936081:ATAC-STARR-seq lymphoblastoid active region 19369 [Gene]
  • LOC129936082:ATAC-STARR-seq lymphoblastoid active region 19370 [Gene]
  • LOC129936083:ATAC-STARR-seq lymphoblastoid active region 19371 [Gene]
  • LOC129936084:ATAC-STARR-seq lymphoblastoid active region 19372 [Gene]
  • LOC129936086:ATAC-STARR-seq lymphoblastoid active region 19373 [Gene]
  • LOC129936087:ATAC-STARR-seq lymphoblastoid active region 19375 [Gene]
  • LOC129936089:ATAC-STARR-seq lymphoblastoid active region 19376 [Gene]
  • LOC129936090:ATAC-STARR-seq lymphoblastoid active region 19377 [Gene]
  • LOC129936091:ATAC-STARR-seq lymphoblastoid active region 19378 [Gene]
  • LOC129936092:ATAC-STARR-seq lymphoblastoid active region 19379 [Gene]
  • LOC129936096:ATAC-STARR-seq lymphoblastoid active region 19380 [Gene]
  • LOC129936098:ATAC-STARR-seq lymphoblastoid active region 19381 [Gene]
  • LOC129936099:ATAC-STARR-seq lymphoblastoid active region 19382 [Gene]
  • LOC129936100:ATAC-STARR-seq lymphoblastoid active region 19383 [Gene]
  • LOC129936101:ATAC-STARR-seq lymphoblastoid active region 19384 [Gene]
  • LOC129936102:ATAC-STARR-seq lymphoblastoid active region 19385 [Gene]
  • LOC129936103:ATAC-STARR-seq lymphoblastoid active region 19386 [Gene]
  • LOC129936104:ATAC-STARR-seq lymphoblastoid active region 19387 [Gene]
  • LOC129936105:ATAC-STARR-seq lymphoblastoid active region 19388 [Gene]
  • LOC129936106:ATAC-STARR-seq lymphoblastoid active region 19389 [Gene]
  • LOC129936107:ATAC-STARR-seq lymphoblastoid active region 19390 [Gene]
  • LOC129936108:ATAC-STARR-seq lymphoblastoid active region 19391 [Gene]
  • LOC129936109:ATAC-STARR-seq lymphoblastoid active region 19392 [Gene]
  • LOC129936110:ATAC-STARR-seq lymphoblastoid active region 19393 [Gene]
  • LOC129936113:ATAC-STARR-seq lymphoblastoid active region 19394 [Gene]
  • LOC129936114:ATAC-STARR-seq lymphoblastoid active region 19395 [Gene]
  • LOC129936115:ATAC-STARR-seq lymphoblastoid active region 19396 [Gene]
  • LOC129936118:ATAC-STARR-seq lymphoblastoid active region 19397 [Gene]
  • LOC129936119:ATAC-STARR-seq lymphoblastoid active region 19398 [Gene]
  • LOC129936121:ATAC-STARR-seq lymphoblastoid active region 19399 [Gene]
  • LOC129936122:ATAC-STARR-seq lymphoblastoid active region 19400 [Gene]
  • LOC129936123:ATAC-STARR-seq lymphoblastoid active region 19401 [Gene]
  • LOC129936124:ATAC-STARR-seq lymphoblastoid active region 19402 [Gene]
  • LOC129936126:ATAC-STARR-seq lymphoblastoid active region 19403 [Gene]
  • LOC129936128:ATAC-STARR-seq lymphoblastoid active region 19405 [Gene]
  • LOC129936131:ATAC-STARR-seq lymphoblastoid active region 19406 [Gene]
  • LOC129936132:ATAC-STARR-seq lymphoblastoid active region 19407 [Gene]
  • LOC129936136:ATAC-STARR-seq lymphoblastoid active region 19409 [Gene]
  • LOC129936137:ATAC-STARR-seq lymphoblastoid active region 19410 [Gene]
  • LOC129936139:ATAC-STARR-seq lymphoblastoid active region 19411 [Gene]
  • LOC129936145:ATAC-STARR-seq lymphoblastoid active region 19413 [Gene]
  • LOC129936148:ATAC-STARR-seq lymphoblastoid active region 19416 [Gene]
  • LOC129936149:ATAC-STARR-seq lymphoblastoid active region 19417 [Gene]
  • LOC129929023:ATAC-STARR-seq lymphoblastoid active region 19418 [Gene]
  • LOC129929024:ATAC-STARR-seq lymphoblastoid active region 19419 [Gene]
  • LOC129929025:ATAC-STARR-seq lymphoblastoid active region 19420 [Gene]
  • LOC129936150:ATAC-STARR-seq lymphoblastoid active region 19421 [Gene]
  • LOC129936153:ATAC-STARR-seq lymphoblastoid active region 19422 [Gene]
  • LOC129936154:ATAC-STARR-seq lymphoblastoid active region 19425 [Gene]
  • LOC129936155:ATAC-STARR-seq lymphoblastoid active region 19426 [Gene]
  • LOC129936157:ATAC-STARR-seq lymphoblastoid active region 19429 [Gene]
  • LOC129936158:ATAC-STARR-seq lymphoblastoid active region 19431 [Gene]
  • LOC129936159:ATAC-STARR-seq lymphoblastoid active region 19432 [Gene]
  • LOC129936160:ATAC-STARR-seq lymphoblastoid active region 19433 [Gene]
  • LOC129936163:ATAC-STARR-seq lymphoblastoid active region 19434 [Gene]
  • LOC129936164:ATAC-STARR-seq lymphoblastoid active region 19435 [Gene]
  • LOC129936166:ATAC-STARR-seq lymphoblastoid active region 19436 [Gene]
  • LOC129936167:ATAC-STARR-seq lymphoblastoid active region 19437 [Gene]
  • LOC129936168:ATAC-STARR-seq lymphoblastoid active region 19438 [Gene]
  • LOC129936169:ATAC-STARR-seq lymphoblastoid active region 19439 [Gene]
  • LOC129936170:ATAC-STARR-seq lymphoblastoid active region 19440 [Gene]
  • LOC129936171:ATAC-STARR-seq lymphoblastoid active region 19441 [Gene]
  • LOC129936172:ATAC-STARR-seq lymphoblastoid active region 19442 [Gene]
  • LOC129936173:ATAC-STARR-seq lymphoblastoid active region 19443 [Gene]
  • LOC129936175:ATAC-STARR-seq lymphoblastoid active region 19445 [Gene]
  • LOC129936176:ATAC-STARR-seq lymphoblastoid active region 19446 [Gene]
  • LOC129936177:ATAC-STARR-seq lymphoblastoid active region 19447 [Gene]
  • LOC129936178:ATAC-STARR-seq lymphoblastoid active region 19449 [Gene]
  • LOC129936035:ATAC-STARR-seq lymphoblastoid silent region 14006 [Gene]
  • LOC129936044:ATAC-STARR-seq lymphoblastoid silent region 14007 [Gene]
  • LOC129936045:ATAC-STARR-seq lymphoblastoid silent region 14008 [Gene]
  • LOC129936047:ATAC-STARR-seq lymphoblastoid silent region 14009 [Gene]
  • LOC129936048:ATAC-STARR-seq lymphoblastoid silent region 14010 [Gene]
  • LOC129936050:ATAC-STARR-seq lymphoblastoid silent region 14011 [Gene]
  • LOC129936051:ATAC-STARR-seq lymphoblastoid silent region 14012 [Gene]
  • LOC129936052:ATAC-STARR-seq lymphoblastoid silent region 14013 [Gene]
  • LOC129936054:ATAC-STARR-seq lymphoblastoid silent region 14015 [Gene]
  • LOC129936056:ATAC-STARR-seq lymphoblastoid silent region 14016 [Gene]
  • LOC129936058:ATAC-STARR-seq lymphoblastoid silent region 14017 [Gene]
  • LOC129936059:ATAC-STARR-seq lymphoblastoid silent region 14018 [Gene]
  • LOC129936072:ATAC-STARR-seq lymphoblastoid silent region 14019 [Gene]
  • LOC129936077:ATAC-STARR-seq lymphoblastoid silent region 14020 [Gene]
  • LOC129936078:ATAC-STARR-seq lymphoblastoid silent region 14021 [Gene]
  • LOC129936085:ATAC-STARR-seq lymphoblastoid silent region 14022 [Gene]
  • LOC129936088:ATAC-STARR-seq lymphoblastoid silent region 14023 [Gene]
  • LOC129936093:ATAC-STARR-seq lymphoblastoid silent region 14024 [Gene]
  • LOC129936094:ATAC-STARR-seq lymphoblastoid silent region 14025 [Gene]
  • LOC129936095:ATAC-STARR-seq lymphoblastoid silent region 14026 [Gene]
  • LOC129936097:ATAC-STARR-seq lymphoblastoid silent region 14027 [Gene]
  • LOC129936111:ATAC-STARR-seq lymphoblastoid silent region 14028 [Gene]
  • LOC129936112:ATAC-STARR-seq lymphoblastoid silent region 14029 [Gene]
  • LOC129936116:ATAC-STARR-seq lymphoblastoid silent region 14030 [Gene]
  • LOC129936117:ATAC-STARR-seq lymphoblastoid silent region 14031 [Gene]
  • LOC129936120:ATAC-STARR-seq lymphoblastoid silent region 14032 [Gene]
  • LOC129936125:ATAC-STARR-seq lymphoblastoid silent region 14033 [Gene]
  • LOC129936127:ATAC-STARR-seq lymphoblastoid silent region 14034 [Gene]
  • LOC129936129:ATAC-STARR-seq lymphoblastoid silent region 14038 [Gene]
  • LOC129936130:ATAC-STARR-seq lymphoblastoid silent region 14039 [Gene]
  • LOC129936133:ATAC-STARR-seq lymphoblastoid silent region 14040 [Gene]
  • LOC129936134:ATAC-STARR-seq lymphoblastoid silent region 14041 [Gene]
  • LOC129936135:ATAC-STARR-seq lymphoblastoid silent region 14042 [Gene]
  • LOC129936138:ATAC-STARR-seq lymphoblastoid silent region 14044 [Gene]
  • LOC129936140:ATAC-STARR-seq lymphoblastoid silent region 14047 [Gene]
  • LOC129936141:ATAC-STARR-seq lymphoblastoid silent region 14048 [Gene]
  • LOC129936142:ATAC-STARR-seq lymphoblastoid silent region 14049 [Gene]
  • LOC129936143:ATAC-STARR-seq lymphoblastoid silent region 14050 [Gene]
  • LOC129936144:ATAC-STARR-seq lymphoblastoid silent region 14051 [Gene]
  • LOC129936146:ATAC-STARR-seq lymphoblastoid silent region 14052 [Gene]
  • LOC129936147:ATAC-STARR-seq lymphoblastoid silent region 14053 [Gene]
  • LOC129929021:ATAC-STARR-seq lymphoblastoid silent region 14055 [Gene]
  • LOC129929022:ATAC-STARR-seq lymphoblastoid silent region 14056 [Gene]
  • LOC129936151:ATAC-STARR-seq lymphoblastoid silent region 14057 [Gene]
  • LOC129936152:ATAC-STARR-seq lymphoblastoid silent region 14058 [Gene]
  • LOC129929026:ATAC-STARR-seq lymphoblastoid silent region 14059 [Gene]
  • LOC129936156:ATAC-STARR-seq lymphoblastoid silent region 14061 [Gene]
  • LOC129936161:ATAC-STARR-seq lymphoblastoid silent region 14062 [Gene]
  • LOC129936162:ATAC-STARR-seq lymphoblastoid silent region 14063 [Gene]
  • LOC129936165:ATAC-STARR-seq lymphoblastoid silent region 14064 [Gene]
  • LOC129936174:ATAC-STARR-seq lymphoblastoid silent region 14065 [Gene]
  • ATP2B2-IT1:ATP2B2 intronic transcript 1 [Gene - HGNC]
  • ATP2B2-IT2:ATP2B2 intronic transcript 2 [Gene - HGNC]
  • ATP2B2:ATPase plasma membrane Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BHLHE40-AS1:BHLHE40 antisense RNA 1 [Gene - HGNC]
  • LOC126806602:BRD4-independent group 4 enhancer GRCh37_chr3:11330264-11331463 [Gene]
  • LOC126806604:BRD4-independent group 4 enhancer GRCh37_chr3:12219651-12220850 [Gene]
  • LOC126806587:BRD4-independent group 4 enhancer GRCh37_chr3:1277185-1278384 [Gene]
  • LOC126806588:BRD4-independent group 4 enhancer GRCh37_chr3:3079797-3080996 [Gene]
  • LOC126806594:BRD4-independent group 4 enhancer GRCh37_chr3:5605144-5606343 [Gene]
  • BRK1:BRICK1 subunit of SCAR/WAVE actin nucleating complex [Gene - OMIM - HGNC]
  • LOC126806603:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:11405755-11406954 [Gene]
  • LOC126806585:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:118683-119882 [Gene]
  • LOC126806595:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:5740332-5741531 [Gene]
  • LOC126806596:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:6531900-6533099 [Gene]
  • LOC126806598:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:8361398-8362597 [Gene]
  • CHL1-AS1:CHL1 antisense RNA 1 [Gene - HGNC]
  • CHL1-AS2:CHL1 antisense RNA 2 [Gene - HGNC]
  • CNTN4-AS1:CNTN4 antisense RNA 1 [Gene - HGNC]
  • CNTN4-AS2:CNTN4 antisense RNA 2 [Gene - HGNC]
  • LOC115995504:CRISPRi-validated cis-regulatory element chr3.91 [Gene]
  • EMC3-AS1:EMC3 antisense RNA 1 [Gene - HGNC]
  • EDEM1:ER degradation enhancing alpha-mannosidase like protein 1 [Gene - OMIM - HGNC]
  • EMC3:ER membrane protein complex subunit 3 [Gene - OMIM - HGNC]
  • FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
  • FANCD2OS:FANCD2 opposite strand [Gene - HGNC]
  • LOC111429626:FOXA motif-containing MPRA enhancer 226 [Gene]
  • GRM7-AS1:GRM7 antisense RNA 1 [Gene - HGNC]
  • GRM7-AS2:GRM7 antisense RNA 2 [Gene - HGNC]
  • GRM7-AS3:GRM7 antisense RNA 3 [Gene - HGNC]
  • ITPR1-DT:ITPR1 divergent transcript [Gene - HGNC]
  • LHFPL4:LHFPL tetraspan subfamily member 4 [Gene - OMIM - HGNC]
  • LMCD1:LIM and cysteine rich domains 1 [Gene - OMIM - HGNC]
  • LMCD1-AS1:LMCD1 antisense RNA 1 [Gene - HGNC]
  • LOC126806600:MED14-independent group 3 enhancer GRCh37_chr3:10018113-10019312 [Gene]
  • LOC126806586:MED14-independent group 3 enhancer GRCh37_chr3:152955-154154 [Gene]
  • LOC126806589:MED14-independent group 3 enhancer GRCh37_chr3:3600748-3601947 [Gene]
  • LOC126806590:MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 [Gene]
  • LOC111501788:MED14-independent group 3 enhancer GRCh37_chr3:5390480-5391679 [Gene]
  • LOC126806597:MED14-independent group 3 enhancer GRCh37_chr3:8082288-8083487 [Gene]
  • MKRN2OS:MKRN2 opposite strand [Gene - HGNC]
  • LOC129389017:MPRA-validated peak4526 silencer [Gene]
  • LOC129389018:MPRA-validated peak4528 silencer [Gene]
  • LOC129389019:MPRA-validated peak4531 silencer [Gene]
  • LOC129389020:MPRA-validated peak4533 silencer [Gene]
  • LOC129389021:MPRA-validated peak4536 silencer [Gene]
  • LOC129389022:MPRA-validated peak4540 silencer [Gene]
  • LOC129389023:MPRA-validated peak4541 silencer [Gene]
  • LOC129389024:MPRA-validated peak4543 silencer [Gene]
  • LOC132088859:Neanderthal introgressed variant-containing enhancer experimental_64297 [Gene]
  • LOC132088944:Neanderthal introgressed variant-containing enhancer experimental_68491 [Gene]
  • LOC132088949:Neanderthal introgressed variant-containing enhancer experimental_68954 [Gene]
  • LOC132088954:Neanderthal introgressed variant-containing enhancer experimental_69430 [Gene]
  • LOC132088963:Neanderthal introgressed variant-containing enhancer experimental_69928 [Gene]
  • LOC132088964:Neanderthal introgressed variant-containing enhancer experimental_69934 [Gene]
  • LOC132088965:Neanderthal introgressed variant-containing enhancer experimental_69968 [Gene]
  • LOC132088977:Neanderthal introgressed variant-containing enhancer experimental_70950 [Gene]
  • LOC132088979:Neanderthal introgressed variant-containing enhancer experimental_71090 [Gene]
  • LOC132088980:Neanderthal introgressed variant-containing enhancer experimental_71094 [Gene]
  • LOC126806601:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:11178289-11179488 [Gene]
  • LOC126806605:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:12386163-12387362 [Gene]
  • LOC126806606:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:12486052-12487251 [Gene]
  • LOC126806591:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:5036716-5037915 [Gene]
  • LOC126806592:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:5064405-5065604 [Gene]
  • LOC126806593:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:5371861-5373060 [Gene]
  • LOC126806599:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:8911034-8912233 [Gene]
  • LOC114803475:PPARG eExon liver enhancer [Gene]
  • PRRT3-AS1:PRRT3 antisense RNA 1 [Gene - OMIM - HGNC]
  • RAD18:RAD18 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • RPUSD3:RNA pseudouridine synthase D3 [Gene - OMIM - HGNC]
  • RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • SEC13:SEC13 homolog, nuclear pore and COPII coat complex component [Gene - OMIM - HGNC]
  • SETMAR:SET domain and mariner transposase fusion gene [Gene - OMIM - HGNC]
  • SETD5:SET domain containing 5 [Gene - OMIM - HGNC]
  • SLC6A1-AS1:SLC6A1 antisense RNA 1 [Gene - HGNC]
  • SRGAP3:SLIT-ROBO Rho GTPase activating protein 3 [Gene - OMIM - HGNC]
  • SRGAP3-AS2:SRGAP3 antisense RNA 2 [Gene - HGNC]
  • SRGAP3-AS3:SRGAP3 antisense RNA 3 [Gene - HGNC]
  • SRGAP3-AS4:SRGAP3 antisense RNA 4 [Gene - HGNC]
  • LOC122889024:Sharpr-MPRA regulatory region 1018 [Gene]
  • LOC122889018:Sharpr-MPRA regulatory region 107 [Gene]
  • LOC122889027:Sharpr-MPRA regulatory region 11896 [Gene]
  • LOC121009636:Sharpr-MPRA regulatory region 12048 [Gene]
  • LOC122889020:Sharpr-MPRA regulatory region 12228 [Gene]
  • LOC121725128:Sharpr-MPRA regulatory region 12699 [Gene]
  • LOC112848342:Sharpr-MPRA regulatory region 13806 [Gene]
  • LOC122889029:Sharpr-MPRA regulatory region 13942 [Gene]
  • LOC122889019:Sharpr-MPRA regulatory region 14120 [Gene]
  • LOC112935963:Sharpr-MPRA regulatory region 14744 [Gene]
  • LOC112935932:Sharpr-MPRA regulatory region 14798 [Gene]
  • LOC114004374:Sharpr-MPRA regulatory region 15222 [Gene]
  • LOC122889028:Sharpr-MPRA regulatory region 15302 [Gene]
  • LOC122889037:Sharpr-MPRA regulatory region 15359 [Gene]
  • LOC112841609:Sharpr-MPRA regulatory region 1605 [Gene]
  • LOC122889033:Sharpr-MPRA regulatory region 1670 [Gene]
  • LOC121009637:Sharpr-MPRA regulatory region 2381 [Gene]
  • LOC122889026:Sharpr-MPRA regulatory region 3594 [Gene]
  • LOC121009639:Sharpr-MPRA regulatory region 4342 [Gene]
  • LOC122889025:Sharpr-MPRA regulatory region 4351 [Gene]
  • LOC112935931:Sharpr-MPRA regulatory region 4455 [Gene]
  • LOC121009638:Sharpr-MPRA regulatory region 4794 [Gene]
  • LOC121009640:Sharpr-MPRA regulatory region 5418 [Gene]
  • LOC122889023:Sharpr-MPRA regulatory region 5493 [Gene]
  • LOC122889022:Sharpr-MPRA regulatory region 5688 [Gene]
  • LOC121725127:Sharpr-MPRA regulatory region 6601 [Gene]
  • LOC121725129:Sharpr-MPRA regulatory region 7129 [Gene]
  • LOC122889021:Sharpr-MPRA regulatory region 7157 [Gene]
  • LOC122889036:Sharpr-MPRA regulatory region 7614 [Gene]
  • LOC122889032:Sharpr-MPRA regulatory region 781 [Gene]
  • LOC122889034:Sharpr-MPRA regulatory region 8254 [Gene]
  • LOC122889031:Sharpr-MPRA regulatory region 8698 [Gene]
  • LOC122889035:Sharpr-MPRA regulatory region 9131 [Gene]
  • LOC122889017:Sharpr-MPRA regulatory region 9777 [Gene]
  • LOC122889030:Sharpr-MPRA regulatory region 9891 [Gene]
  • TAMM41:TAM41 mitochondrial translocator assembly and maintenance homolog [Gene - OMIM - HGNC]
  • THUMPD3:THUMP domain containing 3 [Gene - HGNC]
  • THUMPD3-AS1:THUMPD3 antisense RNA 1 [Gene - HGNC]
  • TIMP4:TIMP metallopeptidase inhibitor 4 [Gene - OMIM - HGNC]
  • TATDN2:TatD DNase domain containing 2 [Gene - OMIM - HGNC]
  • ARPC4:actin related protein 2/3 complex subunit 4 [Gene - OMIM - HGNC]
  • ATG7:autophagy related 7 [Gene - OMIM - HGNC]
  • BHLHE40:basic helix-loop-helix family member e40 [Gene - OMIM - HGNC]
  • BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
  • CAMK1:calcium/calmodulin dependent protein kinase I [Gene - OMIM - HGNC]
  • CAV3:caveolin 3 [Gene - OMIM - HGNC]
  • CHL1:cell adhesion molecule L1 like [Gene - OMIM - HGNC]
  • CIDEC:cell death inducing DFFA like effector c [Gene - OMIM - HGNC]
  • CRBN:cereblon [Gene - OMIM - HGNC]
  • CNTN4:contactin 4 [Gene - OMIM - HGNC]
  • CNTN6:contactin 6 [Gene - OMIM - HGNC]
  • CPNE9:copine family member 9 [Gene - HGNC]
  • CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]
  • EGOT:eosinophil granule ontogeny transcript [Gene - OMIM - HGNC]
  • GHRL:ghrelin and obestatin prepropeptide [Gene - OMIM - HGNC]
  • GHRLOS:ghrelin opposite strand/antisense RNA [Gene - OMIM - HGNC]
  • GRM7:glutamate metabotropic receptor 7 [Gene - OMIM - HGNC]
  • HRH1:histamine receptor H1 [Gene - OMIM - HGNC]
  • ITPR1:inositol 1,4,5-trisphosphate receptor type 1 [Gene - OMIM - HGNC]
  • IRAK2:interleukin 1 receptor associated kinase 2 [Gene - OMIM - HGNC]
  • IL17RC:interleukin 17 receptor C [Gene - OMIM - HGNC]
  • IL17RE:interleukin 17 receptor E [Gene - OMIM - HGNC]
  • IL5RA:interleukin 5 receptor subunit alpha [Gene - OMIM - HGNC]
  • JAGN1:jagunal homolog 1 [Gene - OMIM - HGNC]
  • LRRN1:leucine rich repeat neuronal 1 [Gene - OMIM - HGNC]
  • LINC01266:long intergenic non-protein coding RNA 1266 [Gene - HGNC]
  • LINC00312:long intergenic non-protein coding RNA 312 [Gene - OMIM - HGNC]
  • LINC00606:long intergenic non-protein coding RNA 606 [Gene - HGNC]
  • LINC00852:long intergenic non-protein coding RNA 852 [Gene - HGNC]
  • MKRN2:makorin ring finger protein 2 [Gene - OMIM - HGNC]
  • LOC107522035:meiotic recombination hotspot S [Gene]
  • LOC107522028:meiotic recombination hotspot T [Gene]
  • MIR12127:microRNA 12127 [Gene - HGNC]
  • MIR378B:microRNA 378b [Gene - HGNC]
  • MIR4790:microRNA 4790 [Gene - HGNC]
  • MIR885:microRNA 885 [Gene - HGNC]
  • MTMR14:myotubularin related protein 14 [Gene - OMIM - HGNC]
  • OXTR:oxytocin receptor [Gene - OMIM - HGNC]
  • PPARG:peroxisome proliferator activated receptor gamma [Gene - OMIM - HGNC]
  • PRRT3:proline rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • SLC6A11:solute carrier family 6 member 11 [Gene - OMIM - HGNC]
  • SLC6A1:solute carrier family 6 member 1 [Gene - OMIM - HGNC]
  • SSUH2:ssu-2 homolog [Gene - OMIM - HGNC]
  • SUMF1:sulfatase modifying factor 1 [Gene - OMIM - HGNC]
  • SYN2:synapsin II [Gene - OMIM - HGNC]
  • TRNT1:tRNA nucleotidyl transferase 1 [Gene - OMIM - HGNC]
  • TSEN2:tRNA splicing endonuclease subunit 2 [Gene - OMIM - HGNC]
  • TADA3:transcriptional adaptor 3 [Gene - OMIM - HGNC]
  • TTLL3:tubulin tyrosine ligase like 3 [Gene - OMIM - HGNC]
  • LOC100130207:uncharacterized LOC100130207 [Gene]
  • LOC101927394:uncharacterized LOC101927394 [Gene]
  • LOC101927467:uncharacterized LOC101927467 [Gene]
  • LOC105376944:uncharacterized LOC105376944 [Gene]
  • LOC401052:uncharacterized LOC401052 [Gene]
  • VGLL4:vestigial like family member 4 [Gene - OMIM - HGNC]
  • VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3p26.3-25.2
Genomic location:
Preferred name:
GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1
HGVS:
  • NC_000003.12:g.(?_32241)_(12681483_?)del
  • NC_000003.10:g.(?_48914)_(12697982_?)del
  • NC_000003.11:g.(?_73914)_(12722982_?)del
Links:
dbVar: nssv1494863; dbVar: nsv869341
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
SCV000178409ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 10, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178409.4

#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