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GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 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:
RCV000051804.4

Allele description [Variation Report for GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3]

GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3

Genes:
  • HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]
  • ADAM29:ADAM metallopeptidase domain 29 [Gene - OMIM - HGNC]
  • AGA-DT:AGA divergent transcript [Gene - HGNC]
  • LOC129993384:ATAC-STARR-seq lymphoblastoid active region 22153 [Gene]
  • LOC129993385:ATAC-STARR-seq lymphoblastoid active region 22154 [Gene]
  • LOC129993386:ATAC-STARR-seq lymphoblastoid active region 22155 [Gene]
  • LOC129993392:ATAC-STARR-seq lymphoblastoid active region 22156 [Gene]
  • LOC129993395:ATAC-STARR-seq lymphoblastoid active region 22157 [Gene]
  • LOC129993396:ATAC-STARR-seq lymphoblastoid active region 22158 [Gene]
  • LOC129993398:ATAC-STARR-seq lymphoblastoid active region 22160 [Gene]
  • LOC129993399:ATAC-STARR-seq lymphoblastoid active region 22161 [Gene]
  • LOC129993400:ATAC-STARR-seq lymphoblastoid active region 22163 [Gene]
  • LOC129993401:ATAC-STARR-seq lymphoblastoid active region 22164 [Gene]
  • LOC129993402:ATAC-STARR-seq lymphoblastoid active region 22165 [Gene]
  • LOC129993407:ATAC-STARR-seq lymphoblastoid active region 22166 [Gene]
  • LOC129993408:ATAC-STARR-seq lymphoblastoid active region 22168 [Gene]
  • LOC129993410:ATAC-STARR-seq lymphoblastoid active region 22169 [Gene]
  • LOC129993412:ATAC-STARR-seq lymphoblastoid active region 22170 [Gene]
  • LOC129993413:ATAC-STARR-seq lymphoblastoid active region 22171 [Gene]
  • LOC129993415:ATAC-STARR-seq lymphoblastoid active region 22172 [Gene]
  • LOC129993416:ATAC-STARR-seq lymphoblastoid active region 22173 [Gene]
  • LOC129993417:ATAC-STARR-seq lymphoblastoid active region 22174 [Gene]
  • LOC129993418:ATAC-STARR-seq lymphoblastoid active region 22175 [Gene]
  • LOC129993419:ATAC-STARR-seq lymphoblastoid active region 22176 [Gene]
  • LOC129993424:ATAC-STARR-seq lymphoblastoid active region 22177 [Gene]
  • LOC129993426:ATAC-STARR-seq lymphoblastoid active region 22178 [Gene]
  • LOC129993427:ATAC-STARR-seq lymphoblastoid active region 22179 [Gene]
  • LOC129993428:ATAC-STARR-seq lymphoblastoid active region 22180 [Gene]
  • LOC129993429:ATAC-STARR-seq lymphoblastoid active region 22181 [Gene]
  • LOC129993430:ATAC-STARR-seq lymphoblastoid active region 22182 [Gene]
  • LOC129993432:ATAC-STARR-seq lymphoblastoid active region 22183 [Gene]
  • LOC129993434:ATAC-STARR-seq lymphoblastoid active region 22184 [Gene]
  • LOC129993438:ATAC-STARR-seq lymphoblastoid active region 22185 [Gene]
  • LOC129993440:ATAC-STARR-seq lymphoblastoid active region 22188 [Gene]
  • LOC129993441:ATAC-STARR-seq lymphoblastoid active region 22189 [Gene]
  • LOC129993442:ATAC-STARR-seq lymphoblastoid active region 22190 [Gene]
  • LOC129993443:ATAC-STARR-seq lymphoblastoid active region 22191 [Gene]
  • LOC129993444:ATAC-STARR-seq lymphoblastoid active region 22193 [Gene]
  • LOC129993445:ATAC-STARR-seq lymphoblastoid active region 22194 [Gene]
  • LOC129993446:ATAC-STARR-seq lymphoblastoid active region 22195 [Gene]
  • LOC129993447:ATAC-STARR-seq lymphoblastoid active region 22196 [Gene]
  • LOC129993448:ATAC-STARR-seq lymphoblastoid active region 22197 [Gene]
  • LOC129993449:ATAC-STARR-seq lymphoblastoid active region 22198 [Gene]
  • LOC129993450:ATAC-STARR-seq lymphoblastoid active region 22199 [Gene]
  • LOC129993451:ATAC-STARR-seq lymphoblastoid active region 22200 [Gene]
  • LOC129993452:ATAC-STARR-seq lymphoblastoid active region 22201 [Gene]
  • LOC129993453:ATAC-STARR-seq lymphoblastoid active region 22202 [Gene]
  • LOC129993454:ATAC-STARR-seq lymphoblastoid active region 22203 [Gene]
  • LOC129993455:ATAC-STARR-seq lymphoblastoid active region 22204 [Gene]
  • LOC129993457:ATAC-STARR-seq lymphoblastoid active region 22205 [Gene]
  • LOC129993458:ATAC-STARR-seq lymphoblastoid active region 22206 [Gene]
  • LOC129993459:ATAC-STARR-seq lymphoblastoid active region 22208 [Gene]
  • LOC129993460:ATAC-STARR-seq lymphoblastoid active region 22209 [Gene]
  • LOC129993461:ATAC-STARR-seq lymphoblastoid active region 22210 [Gene]
  • LOC129993463:ATAC-STARR-seq lymphoblastoid active region 22213 [Gene]
  • LOC129993464:ATAC-STARR-seq lymphoblastoid active region 22214 [Gene]
  • LOC129993465:ATAC-STARR-seq lymphoblastoid active region 22215 [Gene]
  • LOC129993466:ATAC-STARR-seq lymphoblastoid active region 22216 [Gene]
  • LOC129993467:ATAC-STARR-seq lymphoblastoid active region 22218 [Gene]
  • LOC129993468:ATAC-STARR-seq lymphoblastoid active region 22219 [Gene]
  • LOC129993469:ATAC-STARR-seq lymphoblastoid active region 22220 [Gene]
  • LOC129993474:ATAC-STARR-seq lymphoblastoid active region 22221 [Gene]
  • LOC129993475:ATAC-STARR-seq lymphoblastoid active region 22222 [Gene]
  • LOC129993476:ATAC-STARR-seq lymphoblastoid active region 22225 [Gene]
  • LOC129993477:ATAC-STARR-seq lymphoblastoid active region 22226 [Gene]
  • LOC129993478:ATAC-STARR-seq lymphoblastoid active region 22227 [Gene]
  • LOC129993479:ATAC-STARR-seq lymphoblastoid active region 22228 [Gene]
  • LOC129993480:ATAC-STARR-seq lymphoblastoid active region 22229 [Gene]
  • LOC129993481:ATAC-STARR-seq lymphoblastoid active region 22230 [Gene]
  • LOC129993482:ATAC-STARR-seq lymphoblastoid active region 22231 [Gene]
  • LOC129993486:ATAC-STARR-seq lymphoblastoid active region 22233 [Gene]
  • LOC129993487:ATAC-STARR-seq lymphoblastoid active region 22234 [Gene]
  • LOC129993488:ATAC-STARR-seq lymphoblastoid active region 22235 [Gene]
  • LOC129993489:ATAC-STARR-seq lymphoblastoid active region 22236 [Gene]
  • LOC129993490:ATAC-STARR-seq lymphoblastoid active region 22237 [Gene]
  • LOC129993491:ATAC-STARR-seq lymphoblastoid active region 22238 [Gene]
  • LOC129993492:ATAC-STARR-seq lymphoblastoid active region 22239 [Gene]
  • LOC129993493:ATAC-STARR-seq lymphoblastoid active region 22240 [Gene]
  • LOC129993496:ATAC-STARR-seq lymphoblastoid active region 22243 [Gene]
  • LOC129993497:ATAC-STARR-seq lymphoblastoid active region 22244 [Gene]
  • LOC129993498:ATAC-STARR-seq lymphoblastoid active region 22245 [Gene]
  • LOC129993499:ATAC-STARR-seq lymphoblastoid active region 22246 [Gene]
  • LOC129993500:ATAC-STARR-seq lymphoblastoid active region 22247 [Gene]
  • LOC129993502:ATAC-STARR-seq lymphoblastoid active region 22248 [Gene]
  • LOC129993503:ATAC-STARR-seq lymphoblastoid active region 22249 [Gene]
  • LOC129993507:ATAC-STARR-seq lymphoblastoid active region 22250 [Gene]
  • LOC129993508:ATAC-STARR-seq lymphoblastoid active region 22251 [Gene]
  • LOC129993509:ATAC-STARR-seq lymphoblastoid active region 22252 [Gene]
  • LOC129993510:ATAC-STARR-seq lymphoblastoid active region 22253 [Gene]
  • LOC129993511:ATAC-STARR-seq lymphoblastoid active region 22254 [Gene]
  • LOC129993512:ATAC-STARR-seq lymphoblastoid active region 22255 [Gene]
  • LOC129993513:ATAC-STARR-seq lymphoblastoid active region 22256 [Gene]
  • LOC129993516:ATAC-STARR-seq lymphoblastoid active region 22257 [Gene]
  • LOC129993517:ATAC-STARR-seq lymphoblastoid active region 22258 [Gene]
  • LOC129993519:ATAC-STARR-seq lymphoblastoid active region 22259 [Gene]
  • LOC129993521:ATAC-STARR-seq lymphoblastoid active region 22260 [Gene]
  • LOC129993522:ATAC-STARR-seq lymphoblastoid active region 22261 [Gene]
  • LOC129993525:ATAC-STARR-seq lymphoblastoid active region 22266 [Gene]
  • LOC129993527:ATAC-STARR-seq lymphoblastoid active region 22267 [Gene]
  • LOC129993387:ATAC-STARR-seq lymphoblastoid silent region 15803 [Gene]
  • LOC129993388:ATAC-STARR-seq lymphoblastoid silent region 15804 [Gene]
  • LOC129993389:ATAC-STARR-seq lymphoblastoid silent region 15805 [Gene]
  • LOC129993390:ATAC-STARR-seq lymphoblastoid silent region 15806 [Gene]
  • LOC129993391:ATAC-STARR-seq lymphoblastoid silent region 15807 [Gene]
  • LOC129993393:ATAC-STARR-seq lymphoblastoid silent region 15808 [Gene]
  • LOC129993394:ATAC-STARR-seq lymphoblastoid silent region 15809 [Gene]
  • LOC129993397:ATAC-STARR-seq lymphoblastoid silent region 15812 [Gene]
  • LOC129993403:ATAC-STARR-seq lymphoblastoid silent region 15814 [Gene]
  • LOC129993404:ATAC-STARR-seq lymphoblastoid silent region 15815 [Gene]
  • LOC129993405:ATAC-STARR-seq lymphoblastoid silent region 15816 [Gene]
  • LOC129993406:ATAC-STARR-seq lymphoblastoid silent region 15817 [Gene]
  • LOC129993409:ATAC-STARR-seq lymphoblastoid silent region 15818 [Gene]
  • LOC129993411:ATAC-STARR-seq lymphoblastoid silent region 15819 [Gene]
  • LOC129993414:ATAC-STARR-seq lymphoblastoid silent region 15820 [Gene]
  • LOC129993420:ATAC-STARR-seq lymphoblastoid silent region 15821 [Gene]
  • LOC129993421:ATAC-STARR-seq lymphoblastoid silent region 15822 [Gene]
  • LOC129993422:ATAC-STARR-seq lymphoblastoid silent region 15823 [Gene]
  • LOC129993423:ATAC-STARR-seq lymphoblastoid silent region 15824 [Gene]
  • LOC129993425:ATAC-STARR-seq lymphoblastoid silent region 15825 [Gene]
  • LOC129993431:ATAC-STARR-seq lymphoblastoid silent region 15826 [Gene]
  • LOC129993433:ATAC-STARR-seq lymphoblastoid silent region 15827 [Gene]
  • LOC129993435:ATAC-STARR-seq lymphoblastoid silent region 15828 [Gene]
  • LOC129993436:ATAC-STARR-seq lymphoblastoid silent region 15829 [Gene]
  • LOC129993437:ATAC-STARR-seq lymphoblastoid silent region 15830 [Gene]
  • LOC129993439:ATAC-STARR-seq lymphoblastoid silent region 15833 [Gene]
  • LOC129993456:ATAC-STARR-seq lymphoblastoid silent region 15834 [Gene]
  • LOC129993462:ATAC-STARR-seq lymphoblastoid silent region 15835 [Gene]
  • LOC129993470:ATAC-STARR-seq lymphoblastoid silent region 15836 [Gene]
  • LOC129993471:ATAC-STARR-seq lymphoblastoid silent region 15837 [Gene]
  • LOC129993472:ATAC-STARR-seq lymphoblastoid silent region 15838 [Gene]
  • LOC129993473:ATAC-STARR-seq lymphoblastoid silent region 15839 [Gene]
  • LOC129993483:ATAC-STARR-seq lymphoblastoid silent region 15840 [Gene]
  • LOC129993484:ATAC-STARR-seq lymphoblastoid silent region 15841 [Gene]
  • LOC129993485:ATAC-STARR-seq lymphoblastoid silent region 15842 [Gene]
  • LOC129993494:ATAC-STARR-seq lymphoblastoid silent region 15844 [Gene]
  • LOC129993495:ATAC-STARR-seq lymphoblastoid silent region 15845 [Gene]
  • LOC129993501:ATAC-STARR-seq lymphoblastoid silent region 15847 [Gene]
  • LOC129993504:ATAC-STARR-seq lymphoblastoid silent region 15849 [Gene]
  • LOC129993505:ATAC-STARR-seq lymphoblastoid silent region 15850 [Gene]
  • LOC129993506:ATAC-STARR-seq lymphoblastoid silent region 15851 [Gene]
  • LOC129993514:ATAC-STARR-seq lymphoblastoid silent region 15852 [Gene]
  • LOC129993515:ATAC-STARR-seq lymphoblastoid silent region 15853 [Gene]
  • LOC129993518:ATAC-STARR-seq lymphoblastoid silent region 15854 [Gene]
  • LOC129993520:ATAC-STARR-seq lymphoblastoid silent region 15855 [Gene]
  • LOC129993523:ATAC-STARR-seq lymphoblastoid silent region 15856 [Gene]
  • LOC129993524:ATAC-STARR-seq lymphoblastoid silent region 15857 [Gene]
  • LOC129993526:ATAC-STARR-seq lymphoblastoid silent region 15858 [Gene]
  • LOC126807223:BRD4-independent group 4 enhancer GRCh37_chr4:177077413-177078612 [Gene]
  • LOC126807230:BRD4-independent group 4 enhancer GRCh37_chr4:182067954-182069153 [Gene]
  • LOC126807233:BRD4-independent group 4 enhancer GRCh37_chr4:182717259-182718458 [Gene]
  • LOC126807236:BRD4-independent group 4 enhancer GRCh37_chr4:184269461-184270660 [Gene]
  • LOC126807238:BRD4-independent group 4 enhancer GRCh37_chr4:184614366-184615565 [Gene]
  • LOC126807246:BRD4-independent group 4 enhancer GRCh37_chr4:186434842-186436041 [Gene]
  • LOC126807247:BRD4-independent group 4 enhancer GRCh37_chr4:186508176-186509375 [Gene]
  • LOC126807249:BRD4-independent group 4 enhancer GRCh37_chr4:186948264-186949463 [Gene]
  • LOC126807253:BRD4-independent group 4 enhancer GRCh37_chr4:187509297-187510496 [Gene]
  • LOC126807254:BRD4-independent group 4 enhancer GRCh37_chr4:187524269-187525468 [Gene]
  • LOC126807255:BRD4-independent group 4 enhancer GRCh37_chr4:187538202-187539401 [Gene]
  • LOC126807257:BRD4-independent group 4 enhancer GRCh37_chr4:187855925-187857124 [Gene]
  • LOC126807261:BRD4-independent group 4 enhancer GRCh37_chr4:188523188-188524387 [Gene]
  • LOC126807270:BRD4-independent group 4 enhancer GRCh37_chr4:189406194-189407393 [Gene]
  • LOC126807271:BRD4-independent group 4 enhancer GRCh37_chr4:189655173-189656372 [Gene]
  • LOC126807273:BRD4-independent group 4 enhancer GRCh37_chr4:189979694-189980893 [Gene]
  • LOC126807274:BRD4-independent group 4 enhancer GRCh37_chr4:190229364-190230563 [Gene]
  • LOC126807275:BRD4-independent group 4 enhancer GRCh37_chr4:190471799-190472998 [Gene]
  • LOC126807277:BRD4-independent group 4 enhancer GRCh37_chr4:190606699-190607898 [Gene]
  • LOC126807278:BRD4-independent group 4 enhancer GRCh37_chr4:190608412-190609611 [Gene]
  • LOC126088085:BRD4-independent group 4 enhancer GRCh37_chr4:190615457-190616656 [Gene]
  • LOC126807279:BRD4-independent group 4 enhancer GRCh37_chr4:190802184-190803383 [Gene]
  • LOC126807232:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:182544780-182545979 [Gene]
  • LOC126807239:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185189051-185190250 [Gene]
  • LOC126807241:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185304232-185305431 [Gene]
  • LOC126807243:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185424979-185426178 [Gene]
  • LOC126807245:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:185814744-185815943 [Gene]
  • LOC126807248:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:186760070-186761269 [Gene]
  • LOC126807252:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:187292262-187293461 [Gene]
  • LOC126807258:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:187880187-187881386 [Gene]
  • LOC126807262:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:188592460-188593659 [Gene]
  • LOC126807276:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:190523074-190524273 [Gene]
  • CDKN2AIP:CDKN2A interacting protein [Gene - OMIM - HGNC]
  • LOC116158510:CRISPRi-validated cis-regulatory element chr4.3423 [Gene]
  • FBXO8:F-box protein 8 [Gene - OMIM - HGNC]
  • F11-AS1:F11 antisense RNA 1 [Gene - HGNC]
  • FAT1:FAT atypical cadherin 1 [Gene - OMIM - HGNC]
  • FRG1-DT:FRG1 divergent transcript [Gene - HGNC]
  • FRG1:FSHD region gene 1 [Gene - OMIM - HGNC]
  • GALNT7-DT:GALNT7 divergent transcript [Gene - HGNC]
  • GALNTL6-AS1:GALNTL6 antisense RNA 1 [Gene - HGNC]
  • GPM6A-DT:GPM6A divergent transcript [Gene - HGNC]
  • HAND2-AS1:HAND2 antisense RNA 1 [Gene - OMIM - HGNC]
  • HAFML:HuR (ELAVL1) associated fibroblast migratory lncRNA [Gene - HGNC]
  • ING2-DT:ING2 divergent transcript [Gene - HGNC]
  • IRF2-DT:IRF2 divergent transcript [Gene - HGNC]
  • LRP2BP:LRP2 binding protein [Gene - OMIM - HGNC]
  • LOC126807221:MED14-independent group 3 enhancer GRCh37_chr4:174439311-174440510 [Gene]
  • LOC126807222:MED14-independent group 3 enhancer GRCh37_chr4:174617544-174618743 [Gene]
  • LOC126807224:MED14-independent group 3 enhancer GRCh37_chr4:178649038-178650237 [Gene]
  • LOC126807225:MED14-independent group 3 enhancer GRCh37_chr4:180385948-180387147 [Gene]
  • LOC126807227:MED14-independent group 3 enhancer GRCh37_chr4:181619618-181620817 [Gene]
  • LOC126807228:MED14-independent group 3 enhancer GRCh37_chr4:181748302-181749501 [Gene]
  • LOC126807234:MED14-independent group 3 enhancer GRCh37_chr4:183110451-183111650 [Gene]
  • LOC126807242:MED14-independent group 3 enhancer GRCh37_chr4:185339175-185340374 [Gene]
  • LOC126807250:MED14-independent group 3 enhancer GRCh37_chr4:187069874-187071073 [Gene]
  • LOC126807251:MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 [Gene]
  • LOC126807256:MED14-independent group 3 enhancer GRCh37_chr4:187841344-187842543 [Gene]
  • LOC126807259:MED14-independent group 3 enhancer GRCh37_chr4:187885109-187886308 [Gene]
  • LOC126807260:MED14-independent group 3 enhancer GRCh37_chr4:188049269-188050468 [Gene]
  • LOC126807264:MED14-independent group 3 enhancer GRCh37_chr4:188784615-188785814 [Gene]
  • LOC126807265:MED14-independent group 3 enhancer GRCh37_chr4:189047967-189049166 [Gene]
  • MIR3945HG:MIR3945 host gene [Gene - HGNC]
  • LOC129389249:MPRA-validated peak5150 silencer [Gene]
  • LOC129389250:MPRA-validated peak5154 silencer [Gene]
  • LOC129389251:MPRA-validated peak5156 silencer [Gene]
  • LOC129389252:MPRA-validated peak5157 silencer [Gene]
  • LOC129389253:MPRA-validated peak5158 silencer [Gene]
  • LOC132089092:Neanderthal introgressed variant-containing enhancer experimental_76272 [Gene]
  • LOC132089093:Neanderthal introgressed variant-containing enhancer experimental_76278 [Gene]
  • LOC132090717:Neanderthal introgressed variant-containing enhancer experimental_76283 [Gene]
  • LOC132089094:Neanderthal introgressed variant-containing enhancer experimental_76286 [Gene]
  • LOC132089095:Neanderthal introgressed variant-containing enhancer experimental_76293 [Gene]
  • LOC132089096:Neanderthal introgressed variant-containing enhancer experimental_76294 [Gene]
  • LOC132089097:Neanderthal introgressed variant-containing enhancer experimental_76370 [Gene]
  • LOC132089098:Neanderthal introgressed variant-containing enhancer experimental_76488 [Gene]
  • LOC132089099:Neanderthal introgressed variant-containing enhancer experimental_76514 [Gene]
  • LOC132089100:Neanderthal introgressed variant-containing enhancer experimental_76540 [Gene]
  • LOC132089101:Neanderthal introgressed variant-containing enhancer experimental_76597 [Gene]
  • LOC132089102:Neanderthal introgressed variant-containing enhancer experimental_76678 [Gene]
  • LOC132089103:Neanderthal introgressed variant-containing enhancer experimental_76710 [Gene]
  • LOC132089104:Neanderthal introgressed variant-containing enhancer experimental_76759 [Gene]
  • LOC132089105:Neanderthal introgressed variant-containing enhancer experimental_76785 [Gene]
  • LOC132090718:Neanderthal introgressed variant-containing enhancer experimental_76848 [Gene]
  • LOC132089106:Neanderthal introgressed variant-containing enhancer experimental_76856 [Gene]
  • LOC132089107:Neanderthal introgressed variant-containing enhancer experimental_76895 [Gene]
  • LOC132089108:Neanderthal introgressed variant-containing enhancer experimental_76925 [Gene]
  • LOC132089109:Neanderthal introgressed variant-containing enhancer experimental_77155 [Gene]
  • LOC132089110:Neanderthal introgressed variant-containing enhancer experimental_77214 [Gene]
  • LOC126807226:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:181301504-181302703 [Gene]
  • LOC126807229:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:181854290-181855489 [Gene]
  • LOC126807231:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:182470028-182471227 [Gene]
  • LOC126807235:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:184216060-184217259 [Gene]
  • LOC126807237:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:184359150-184360349 [Gene]
  • LOC126807240:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185196353-185197552 [Gene]
  • LOC126807244:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:185609328-185610527 [Gene]
  • LOC126807263:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:188665573-188666772 [Gene]
  • LOC126807266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189080404-189081603 [Gene]
  • LOC126807267:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189326005-189327204 [Gene]
  • LOC126807268:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189365717-189366916 [Gene]
  • LOC126807269:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189369247-189370446 [Gene]
  • LOC126807272:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:189862417-189863616 [Gene]
  • LOC108281192:PATRR4 recombination region [Gene]
  • PDLIM3:PDZ and LIM domain 3 [Gene - OMIM - HGNC]
  • RWDD4:RWD domain containing 4 [Gene - HGNC]
  • SAP30-DT:SAP30 divergent transcript [Gene - HGNC]
  • SORBS2-AS1:SORBS2 antisense RNA 1 [Gene - HGNC]
  • SPCS3-AS1:SPCS3 antisense RNA 1 [Gene - HGNC]
  • LOC123493243:Sharpr-MPRA regulatory region 10146 [Gene]
  • LOC121056752:Sharpr-MPRA regulatory region 11336 [Gene]
  • LOC123493245:Sharpr-MPRA regulatory region 12125 [Gene]
  • LOC121056754:Sharpr-MPRA regulatory region 12245 [Gene]
  • LOC123493252:Sharpr-MPRA regulatory region 123 [Gene]
  • LOC123493253:Sharpr-MPRA regulatory region 13116 [Gene]
  • LOC121725195:Sharpr-MPRA regulatory region 13144 [Gene]
  • LOC123493246:Sharpr-MPRA regulatory region 13226 [Gene]
  • LOC112939926:Sharpr-MPRA regulatory region 1546 [Gene]
  • LOC123493242:Sharpr-MPRA regulatory region 1660 [Gene]
  • LOC123493244:Sharpr-MPRA regulatory region 1728 [Gene]
  • LOC123493251:Sharpr-MPRA regulatory region 2405 [Gene]
  • LOC112939927:Sharpr-MPRA regulatory region 3150 [Gene]
  • LOC121725196:Sharpr-MPRA regulatory region 4557 [Gene]
  • LOC121056753:Sharpr-MPRA regulatory region 4736 [Gene]
  • LOC123493247:Sharpr-MPRA regulatory region 4878 [Gene]
  • LOC123493254:Sharpr-MPRA regulatory region 651 [Gene]
  • LOC123493249:Sharpr-MPRA regulatory region 683 [Gene]
  • LOC121056751:Sharpr-MPRA regulatory region 724 [Gene]
  • LOC121056755:Sharpr-MPRA regulatory region 7889 [Gene]
  • LOC121056750:Sharpr-MPRA regulatory region 7903 [Gene]
  • LOC123493250:Sharpr-MPRA regulatory region 8879 [Gene]
  • LOC121725194:Sharpr-MPRA regulatory region 9086 [Gene]
  • LOC114004384:Sharpr-MPRA regulatory region 9212 [Gene]
  • LOC123493248:Sharpr-MPRA regulatory region 940 [Gene]
  • LOC123493241:Sharpr-MPRA regulatory region 9800 [Gene]
  • SAP30:Sin3A associated protein 30 [Gene - OMIM - HGNC]
  • TENM3-AS1:TENM3 antisense RNA 1 [Gene - HGNC]
  • TENM3-AS2:TENM3 antisense transcript 2 [Gene - HGNC]
  • UFSP2:UFM1 specific peptidase 2 [Gene - OMIM - HGNC]
  • LOC114827833:VISTA enhancer hs2501 [Gene]
  • LOC114827834:VISTA enhancer hs2502 [Gene]
  • LOC110120796:VISTA enhancer hs886 [Gene]
  • WDR17:WD repeat domain 17 [Gene - OMIM - HGNC]
  • WWC2:WW and C2 domain containing 2 [Gene - OMIM - HGNC]
  • WWC2-AS1:WWC2 antisense RNA 1 [Gene - OMIM - HGNC]
  • WWC2-AS2:WWC2 antisense RNA 2 [Gene - HGNC]
  • ZFP42:ZFP42 zinc finger protein [Gene - OMIM - HGNC]
  • ACSL1:acyl-CoA synthetase long chain family member 1 [Gene - OMIM - HGNC]
  • ASB5:ankyrin repeat and SOCS box containing 5 [Gene - OMIM - HGNC]
  • ANKRD37:ankyrin repeat domain 37 [Gene - OMIM - HGNC]
  • AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
  • CASP3:caspase 3 [Gene - OMIM - HGNC]
  • CENPU:centromere protein U [Gene - OMIM - HGNC]
  • CEP44:centrosomal protein 44 [Gene - OMIM - HGNC]
  • LOC107992388:chr4 t(4;18)(q35;q18) HERV-H recombination region [Gene]
  • CFAP96:cilia and flagella associated protein 96 [Gene - HGNC]
  • CFAP97:cilia and flagella associated protein 97 [Gene - OMIM - HGNC]
  • CLDN22:claudin 22 [Gene - OMIM - HGNC]
  • CLDN24:claudin 24 [Gene - HGNC]
  • F11:coagulation factor XI [Gene - OMIM - HGNC]
  • CCDC110:coiled-coil domain containing 110 [Gene - OMIM - HGNC]
  • CYP4V2:cytochrome P450 family 4 subfamily V member 2 [Gene - OMIM - HGNC]
  • DCTD:dCMP deaminase [Gene - OMIM - HGNC]
  • ENPP6:ectonucleotide pyrophosphatase/phosphodiesterase 6 [Gene - OMIM - HGNC]
  • FAM149A:family with sequence similarity 149 member A [Gene - HGNC]
  • GLRA3:glycine receptor alpha 3 [Gene - OMIM - HGNC]
  • GPM6A:glycoprotein M6A [Gene - OMIM - HGNC]
  • HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
  • HELT:helt bHLH transcription factor [Gene - OMIM - HGNC]
  • HMGB2:high mobility group box 2 [Gene - OMIM - HGNC]
  • ING2:inhibitor of growth family member 2 [Gene - OMIM - HGNC]
  • IRF2:interferon regulatory factor 2 [Gene - OMIM - HGNC]
  • KLKB1:kallikrein B1 [Gene - OMIM - HGNC]
  • LINC01060:long intergenic non-protein coding RNA 1060 [Gene - HGNC]
  • LINC01093:long intergenic non-protein coding RNA 1093 [Gene - HGNC]
  • LINC01098:long intergenic non-protein coding RNA 1098 [Gene - HGNC]
  • LINC01099:long intergenic non-protein coding RNA 1099 [Gene - HGNC]
  • LINC01262:long intergenic non-protein coding RNA 1262 [Gene - HGNC]
  • LINC01596:long intergenic non-protein coding RNA 1596 [Gene - HGNC]
  • LINC02268:long intergenic non-protein coding RNA 2268 [Gene - HGNC]
  • LINC02269:long intergenic non-protein coding RNA 2269 [Gene - HGNC]
  • LINC02362:long intergenic non-protein coding RNA 2362 [Gene - HGNC]
  • LINC02363:long intergenic non-protein coding RNA 2363 [Gene - HGNC]
  • LINC02365:long intergenic non-protein coding RNA 2365 [Gene - HGNC]
  • LINC02374:long intergenic non-protein coding RNA 2374 [Gene - HGNC]
  • LINC02427:long intergenic non-protein coding RNA 2427 [Gene - HGNC]
  • LINC02434:long intergenic non-protein coding RNA 2434 [Gene - HGNC]
  • LINC02436:long intergenic non-protein coding RNA 2436 [Gene - HGNC]
  • LINC02492:long intergenic non-protein coding RNA 2492 [Gene - HGNC]
  • LINC02500:long intergenic non-protein coding RNA 2500 [Gene - HGNC]
  • LINC02508:long intergenic non-protein coding RNA 2508 [Gene - HGNC]
  • LINC02509:long intergenic non-protein coding RNA 2509 [Gene - HGNC]
  • LINC02514:long intergenic non-protein coding RNA 2514 [Gene - HGNC]
  • LINC02515:long intergenic non-protein coding RNA 2515 [Gene - HGNC]
  • LINC00290:long intergenic non-protein coding RNA 290 [Gene - HGNC]
  • MTNR1A:melatonin receptor 1A [Gene - OMIM - HGNC]
  • MIR1305:microRNA 1305 [Gene - HGNC]
  • MIR3945:microRNA 3945 [Gene - HGNC]
  • MIR4276:microRNA 4276 [Gene - OMIM - HGNC]
  • MIR4455:microRNA 4455 [Gene - HGNC]
  • MIR548T:microRNA 548t [Gene - HGNC]
  • NEIL3:nei like DNA glycosylase 3 [Gene - OMIM - HGNC]
  • GALNT7:polypeptide N-acetylgalactosaminyltransferase 7 [Gene - OMIM - HGNC]
  • GALNTL6:polypeptide N-acetylgalactosaminyltransferase like 6 [Gene - OMIM - HGNC]
  • PRIMPOL:primase and DNA directed polymerase [Gene - OMIM - HGNC]
  • SPCS3:signal peptidase complex subunit 3 [Gene - OMIM - HGNC]
  • SLC25A4:solute carrier family 25 member 4 [Gene - OMIM - HGNC]
  • SORBS2:sorbin and SH3 domain containing 2 [Gene - OMIM - HGNC]
  • SNX25:sorting nexin 25 [Gene - HGNC]
  • SPATA4:spermatogenesis associated 4 [Gene - OMIM - HGNC]
  • SCRG1:stimulator of chondrogenesis 1 [Gene - OMIM - HGNC]
  • STOX2:storkhead box 2 [Gene - OMIM - HGNC]
  • TENM3:teneurin transmembrane protein 3 [Gene - OMIM - HGNC]
  • TLR3:toll like receptor 3 [Gene - OMIM - HGNC]
  • TRAPPC11:trafficking protein particle complex subunit 11 [Gene - OMIM - HGNC]
  • TRIML1:tripartite motif family like 1 [Gene - HGNC]
  • TRIML2:tripartite motif family like 2 [Gene - OMIM - HGNC]
  • LOC101928551:uncharacterized LOC101928551 [Gene]
  • LOC101930028:uncharacterized LOC101930028 [Gene]
  • LOC105377543:uncharacterized LOC105377543 [Gene]
  • LOC105377590:uncharacterized LOC105377590 [Gene]
  • LOC105377603:uncharacterized LOC105377603 [Gene]
  • LOC339975:uncharacterized LOC339975 [Gene]
  • FLJ38576:uncharacterized LOC651430 [Gene]
  • VEGFC:vascular endothelial growth factor C [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
4q34.1-35.2
Genomic location:
Preferred name:
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3
HGVS:
  • NC_000004.12:g.(?_172200228)_(189975519_?)dup
  • NC_000004.10:g.(?_173357954)_(191133668_?)dup
  • NC_000004.11:g.(?_173121379)_(190828225_?)dup
Links:
dbVar: nssv578994; dbVar: nsv530325
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
SCV000079152GeneDx
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 GeneDx, SCV000079152.4

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

Last Updated: Sep 1, 2024