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GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 2011
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:
RCV000142528.7

Allele description

GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1

Genes:
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • LOC129998503:ATAC-STARR-seq lymphoblastoid active region 26054 [Gene]
  • LOC129998504:ATAC-STARR-seq lymphoblastoid active region 26055 [Gene]
  • LOC129998505:ATAC-STARR-seq lymphoblastoid active region 26056 [Gene]
  • LOC129998506:ATAC-STARR-seq lymphoblastoid active region 26057 [Gene]
  • LOC129998507:ATAC-STARR-seq lymphoblastoid active region 26058 [Gene]
  • LOC129998509:ATAC-STARR-seq lymphoblastoid active region 26060 [Gene]
  • LOC129998510:ATAC-STARR-seq lymphoblastoid active region 26061 [Gene]
  • LOC129998511:ATAC-STARR-seq lymphoblastoid active region 26062 [Gene]
  • LOC129998512:ATAC-STARR-seq lymphoblastoid active region 26063 [Gene]
  • LOC129998513:ATAC-STARR-seq lymphoblastoid active region 26070 [Gene]
  • LOC129998516:ATAC-STARR-seq lymphoblastoid active region 26072 [Gene]
  • LOC129998517:ATAC-STARR-seq lymphoblastoid active region 26073 [Gene]
  • LOC129998519:ATAC-STARR-seq lymphoblastoid active region 26074 [Gene]
  • LOC129998520:ATAC-STARR-seq lymphoblastoid active region 26075 [Gene]
  • LOC129998523:ATAC-STARR-seq lymphoblastoid active region 26076 [Gene]
  • LOC129998524:ATAC-STARR-seq lymphoblastoid active region 26079 [Gene]
  • LOC129998526:ATAC-STARR-seq lymphoblastoid active region 26080 [Gene]
  • LOC129998527:ATAC-STARR-seq lymphoblastoid active region 26081 [Gene]
  • LOC129998530:ATAC-STARR-seq lymphoblastoid active region 26083 [Gene]
  • LOC129998534:ATAC-STARR-seq lymphoblastoid active region 26084 [Gene]
  • LOC129998535:ATAC-STARR-seq lymphoblastoid active region 26085 [Gene]
  • LOC129998536:ATAC-STARR-seq lymphoblastoid active region 26086 [Gene]
  • LOC129998537:ATAC-STARR-seq lymphoblastoid active region 26087 [Gene]
  • LOC129998538:ATAC-STARR-seq lymphoblastoid active region 26088 [Gene]
  • LOC129998540:ATAC-STARR-seq lymphoblastoid active region 26090 [Gene]
  • LOC129998542:ATAC-STARR-seq lymphoblastoid active region 26091 [Gene]
  • LOC129998544:ATAC-STARR-seq lymphoblastoid active region 26092 [Gene]
  • LOC129998546:ATAC-STARR-seq lymphoblastoid active region 26093 [Gene]
  • LOC129998549:ATAC-STARR-seq lymphoblastoid active region 26094 [Gene]
  • LOC129998551:ATAC-STARR-seq lymphoblastoid active region 26095 [Gene]
  • LOC129998552:ATAC-STARR-seq lymphoblastoid active region 26096 [Gene]
  • LOC129998553:ATAC-STARR-seq lymphoblastoid active region 26100 [Gene]
  • LOC129998554:ATAC-STARR-seq lymphoblastoid active region 26101 [Gene]
  • LOC129998555:ATAC-STARR-seq lymphoblastoid active region 26102 [Gene]
  • LOC129998556:ATAC-STARR-seq lymphoblastoid active region 26103 [Gene]
  • LOC129998557:ATAC-STARR-seq lymphoblastoid active region 26104 [Gene]
  • LOC129998558:ATAC-STARR-seq lymphoblastoid active region 26108 [Gene]
  • LOC129998559:ATAC-STARR-seq lymphoblastoid active region 26109 [Gene]
  • LOC129998560:ATAC-STARR-seq lymphoblastoid active region 26110 [Gene]
  • LOC129998567:ATAC-STARR-seq lymphoblastoid active region 26111 [Gene]
  • LOC129998570:ATAC-STARR-seq lymphoblastoid active region 26112 [Gene]
  • LOC129998573:ATAC-STARR-seq lymphoblastoid active region 26113 [Gene]
  • LOC129998574:ATAC-STARR-seq lymphoblastoid active region 26114 [Gene]
  • LOC129998575:ATAC-STARR-seq lymphoblastoid active region 26115 [Gene]
  • LOC129998576:ATAC-STARR-seq lymphoblastoid active region 26116 [Gene]
  • LOC129998579:ATAC-STARR-seq lymphoblastoid active region 26117 [Gene]
  • LOC129998580:ATAC-STARR-seq lymphoblastoid active region 26118 [Gene]
  • LOC129998581:ATAC-STARR-seq lymphoblastoid active region 26119 [Gene]
  • LOC129998582:ATAC-STARR-seq lymphoblastoid active region 26120 [Gene]
  • LOC129998584:ATAC-STARR-seq lymphoblastoid active region 26121 [Gene]
  • LOC129998585:ATAC-STARR-seq lymphoblastoid active region 26122 [Gene]
  • LOC129998588:ATAC-STARR-seq lymphoblastoid active region 26123 [Gene]
  • LOC129998590:ATAC-STARR-seq lymphoblastoid active region 26124 [Gene]
  • LOC129998596:ATAC-STARR-seq lymphoblastoid active region 26125 [Gene]
  • LOC129998602:ATAC-STARR-seq lymphoblastoid active region 26126 [Gene]
  • LOC129998603:ATAC-STARR-seq lymphoblastoid active region 26127 [Gene]
  • LOC129998609:ATAC-STARR-seq lymphoblastoid active region 26129 [Gene]
  • LOC129998611:ATAC-STARR-seq lymphoblastoid active region 26130 [Gene]
  • LOC129998613:ATAC-STARR-seq lymphoblastoid active region 26131 [Gene]
  • LOC129998615:ATAC-STARR-seq lymphoblastoid active region 26134 [Gene]
  • LOC129998618:ATAC-STARR-seq lymphoblastoid active region 26136 [Gene]
  • LOC129998619:ATAC-STARR-seq lymphoblastoid active region 26138 [Gene]
  • LOC129998620:ATAC-STARR-seq lymphoblastoid active region 26139 [Gene]
  • LOC129998621:ATAC-STARR-seq lymphoblastoid active region 26140 [Gene]
  • LOC129998622:ATAC-STARR-seq lymphoblastoid active region 26141 [Gene]
  • LOC129998624:ATAC-STARR-seq lymphoblastoid active region 26142 [Gene]
  • LOC129998626:ATAC-STARR-seq lymphoblastoid active region 26143 [Gene]
  • LOC129998627:ATAC-STARR-seq lymphoblastoid active region 26144 [Gene]
  • LOC129998628:ATAC-STARR-seq lymphoblastoid active region 26145 [Gene]
  • LOC129998629:ATAC-STARR-seq lymphoblastoid active region 26146 [Gene]
  • LOC129998630:ATAC-STARR-seq lymphoblastoid active region 26149 [Gene]
  • LOC129998631:ATAC-STARR-seq lymphoblastoid active region 26150 [Gene]
  • LOC129998632:ATAC-STARR-seq lymphoblastoid active region 26151 [Gene]
  • LOC129998633:ATAC-STARR-seq lymphoblastoid active region 26152 [Gene]
  • LOC129998634:ATAC-STARR-seq lymphoblastoid active region 26153 [Gene]
  • LOC129998635:ATAC-STARR-seq lymphoblastoid active region 26154 [Gene]
  • LOC129998636:ATAC-STARR-seq lymphoblastoid active region 26155 [Gene]
  • LOC129998637:ATAC-STARR-seq lymphoblastoid active region 26156 [Gene]
  • LOC129998638:ATAC-STARR-seq lymphoblastoid active region 26157 [Gene]
  • LOC129998639:ATAC-STARR-seq lymphoblastoid active region 26158 [Gene]
  • LOC129998644:ATAC-STARR-seq lymphoblastoid active region 26159 [Gene]
  • LOC129998645:ATAC-STARR-seq lymphoblastoid active region 26160 [Gene]
  • LOC129998646:ATAC-STARR-seq lymphoblastoid active region 26161 [Gene]
  • LOC129998647:ATAC-STARR-seq lymphoblastoid active region 26162 [Gene]
  • LOC129998648:ATAC-STARR-seq lymphoblastoid active region 26165 [Gene]
  • LOC129998652:ATAC-STARR-seq lymphoblastoid active region 26166 [Gene]
  • LOC129998654:ATAC-STARR-seq lymphoblastoid active region 26167 [Gene]
  • LOC129998655:ATAC-STARR-seq lymphoblastoid active region 26168 [Gene]
  • LOC129998659:ATAC-STARR-seq lymphoblastoid active region 26169 [Gene]
  • LOC129998660:ATAC-STARR-seq lymphoblastoid active region 26170 [Gene]
  • LOC129998661:ATAC-STARR-seq lymphoblastoid active region 26172 [Gene]
  • LOC129998662:ATAC-STARR-seq lymphoblastoid active region 26173 [Gene]
  • LOC129998663:ATAC-STARR-seq lymphoblastoid active region 26174 [Gene]
  • LOC129998664:ATAC-STARR-seq lymphoblastoid active region 26175 [Gene]
  • LOC129998667:ATAC-STARR-seq lymphoblastoid active region 26176 [Gene]
  • LOC129998508:ATAC-STARR-seq lymphoblastoid silent region 18196 [Gene]
  • LOC129998514:ATAC-STARR-seq lymphoblastoid silent region 18197 [Gene]
  • LOC129998515:ATAC-STARR-seq lymphoblastoid silent region 18198 [Gene]
  • LOC129998518:ATAC-STARR-seq lymphoblastoid silent region 18199 [Gene]
  • LOC129998521:ATAC-STARR-seq lymphoblastoid silent region 18200 [Gene]
  • LOC129998522:ATAC-STARR-seq lymphoblastoid silent region 18202 [Gene]
  • LOC129998525:ATAC-STARR-seq lymphoblastoid silent region 18203 [Gene]
  • LOC129998528:ATAC-STARR-seq lymphoblastoid silent region 18204 [Gene]
  • LOC129998529:ATAC-STARR-seq lymphoblastoid silent region 18205 [Gene]
  • LOC129998531:ATAC-STARR-seq lymphoblastoid silent region 18207 [Gene]
  • LOC129998532:ATAC-STARR-seq lymphoblastoid silent region 18209 [Gene]
  • LOC129998533:ATAC-STARR-seq lymphoblastoid silent region 18210 [Gene]
  • LOC129998539:ATAC-STARR-seq lymphoblastoid silent region 18216 [Gene]
  • LOC129998541:ATAC-STARR-seq lymphoblastoid silent region 18218 [Gene]
  • LOC129998543:ATAC-STARR-seq lymphoblastoid silent region 18219 [Gene]
  • LOC129998545:ATAC-STARR-seq lymphoblastoid silent region 18220 [Gene]
  • LOC129998547:ATAC-STARR-seq lymphoblastoid silent region 18222 [Gene]
  • LOC129998548:ATAC-STARR-seq lymphoblastoid silent region 18223 [Gene]
  • LOC129998550:ATAC-STARR-seq lymphoblastoid silent region 18224 [Gene]
  • LOC129998561:ATAC-STARR-seq lymphoblastoid silent region 18226 [Gene]
  • LOC129998562:ATAC-STARR-seq lymphoblastoid silent region 18227 [Gene]
  • LOC129998563:ATAC-STARR-seq lymphoblastoid silent region 18228 [Gene]
  • LOC129998564:ATAC-STARR-seq lymphoblastoid silent region 18229 [Gene]
  • LOC129998565:ATAC-STARR-seq lymphoblastoid silent region 18230 [Gene]
  • LOC129998566:ATAC-STARR-seq lymphoblastoid silent region 18231 [Gene]
  • LOC129998568:ATAC-STARR-seq lymphoblastoid silent region 18232 [Gene]
  • LOC129998569:ATAC-STARR-seq lymphoblastoid silent region 18233 [Gene]
  • LOC129998571:ATAC-STARR-seq lymphoblastoid silent region 18234 [Gene]
  • LOC129998572:ATAC-STARR-seq lymphoblastoid silent region 18235 [Gene]
  • LOC129998577:ATAC-STARR-seq lymphoblastoid silent region 18236 [Gene]
  • LOC129998578:ATAC-STARR-seq lymphoblastoid silent region 18237 [Gene]
  • LOC129998583:ATAC-STARR-seq lymphoblastoid silent region 18244 [Gene]
  • LOC129869689:ATAC-STARR-seq lymphoblastoid silent region 18245 [Gene]
  • LOC129998586:ATAC-STARR-seq lymphoblastoid silent region 18246 [Gene]
  • LOC129998587:ATAC-STARR-seq lymphoblastoid silent region 18248 [Gene]
  • LOC129998589:ATAC-STARR-seq lymphoblastoid silent region 18249 [Gene]
  • LOC129998591:ATAC-STARR-seq lymphoblastoid silent region 18250 [Gene]
  • LOC129998592:ATAC-STARR-seq lymphoblastoid silent region 18251 [Gene]
  • LOC129998593:ATAC-STARR-seq lymphoblastoid silent region 18252 [Gene]
  • LOC129998594:ATAC-STARR-seq lymphoblastoid silent region 18253 [Gene]
  • LOC129998595:ATAC-STARR-seq lymphoblastoid silent region 18254 [Gene]
  • LOC129998597:ATAC-STARR-seq lymphoblastoid silent region 18255 [Gene]
  • LOC129998598:ATAC-STARR-seq lymphoblastoid silent region 18256 [Gene]
  • LOC129998599:ATAC-STARR-seq lymphoblastoid silent region 18257 [Gene]
  • LOC129998600:ATAC-STARR-seq lymphoblastoid silent region 18258 [Gene]
  • LOC129998601:ATAC-STARR-seq lymphoblastoid silent region 18259 [Gene]
  • LOC129998604:ATAC-STARR-seq lymphoblastoid silent region 18260 [Gene]
  • LOC129998605:ATAC-STARR-seq lymphoblastoid silent region 18261 [Gene]
  • LOC129998606:ATAC-STARR-seq lymphoblastoid silent region 18262 [Gene]
  • LOC129998607:ATAC-STARR-seq lymphoblastoid silent region 18263 [Gene]
  • LOC129998608:ATAC-STARR-seq lymphoblastoid silent region 18264 [Gene]
  • LOC129998610:ATAC-STARR-seq lymphoblastoid silent region 18267 [Gene]
  • LOC129998612:ATAC-STARR-seq lymphoblastoid silent region 18268 [Gene]
  • LOC129998614:ATAC-STARR-seq lymphoblastoid silent region 18269 [Gene]
  • LOC129998616:ATAC-STARR-seq lymphoblastoid silent region 18271 [Gene]
  • LOC129998617:ATAC-STARR-seq lymphoblastoid silent region 18272 [Gene]
  • LOC129998623:ATAC-STARR-seq lymphoblastoid silent region 18274 [Gene]
  • LOC129998625:ATAC-STARR-seq lymphoblastoid silent region 18275 [Gene]
  • LOC129998640:ATAC-STARR-seq lymphoblastoid silent region 18277 [Gene]
  • LOC129998641:ATAC-STARR-seq lymphoblastoid silent region 18279 [Gene]
  • LOC129998642:ATAC-STARR-seq lymphoblastoid silent region 18280 [Gene]
  • LOC129998643:ATAC-STARR-seq lymphoblastoid silent region 18281 [Gene]
  • LOC129998649:ATAC-STARR-seq lymphoblastoid silent region 18282 [Gene]
  • LOC129998650:ATAC-STARR-seq lymphoblastoid silent region 18283 [Gene]
  • LOC129998651:ATAC-STARR-seq lymphoblastoid silent region 18284 [Gene]
  • LOC129998653:ATAC-STARR-seq lymphoblastoid silent region 18285 [Gene]
  • LOC129998656:ATAC-STARR-seq lymphoblastoid silent region 18286 [Gene]
  • LOC129998657:ATAC-STARR-seq lymphoblastoid silent region 18287 [Gene]
  • LOC129998658:ATAC-STARR-seq lymphoblastoid silent region 18288 [Gene]
  • LOC129998665:ATAC-STARR-seq lymphoblastoid silent region 18289 [Gene]
  • LOC129998666:ATAC-STARR-seq lymphoblastoid silent region 18290 [Gene]
  • LOC129998668:ATAC-STARR-seq lymphoblastoid silent region 18293 [Gene]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • LOC126860063:BRD4-independent group 4 enhancer GRCh37_chr7:68428181-68429380 [Gene]
  • LOC126860067:BRD4-independent group 4 enhancer GRCh37_chr7:68652106-68653305 [Gene]
  • LOC126860071:BRD4-independent group 4 enhancer GRCh37_chr7:72396775-72397974 [Gene]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC108254673:CAGE-defined high expression enhancer upstream of GTF2IRD1 [Gene]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • LOC126860057:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:66415389-66416588 [Gene]
  • LOC126860059:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:67378113-67379312 [Gene]
  • LOC126860060:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:67583393-67584592 [Gene]
  • LOC126860066:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:68569663-68570862 [Gene]
  • LOC126860068:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:69969942-69971141 [Gene]
  • LOC126860074:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 [Gene]
  • CRCP:CGRP receptor component [Gene - OMIM - HGNC]
  • LOC116183090:CRISPRi-validated cis-regulatory element chr7.2319 [Gene]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
  • ERV3-1-ZNF117:ERV3-1-ZNF117 readthrough [Gene]
  • FKBP6:FKBP prolyl isomerase family member 6 (inactive) [Gene - OMIM - HGNC]
  • GTF2I-AS1:GTF2I antisense RNA 1 [Gene - HGNC]
  • GTF2IRD1:GTF2I repeat domain containing 1 [Gene - OMIM - HGNC]
  • GTF2IRD2:GTF2I repeat domain containing 2 [Gene - OMIM - HGNC]
  • GTF2IRD2B:GTF2I repeat domain containing 2B [Gene - OMIM - HGNC]
  • LIMK1:LIM domain kinase 1 [Gene - OMIM - HGNC]
  • LOC126860054:MED14-independent group 3 enhancer GRCh37_chr7:63244112-63245311 [Gene]
  • LOC126860055:MED14-independent group 3 enhancer GRCh37_chr7:65432190-65433389 [Gene]
  • LOC126860056:MED14-independent group 3 enhancer GRCh37_chr7:65612993-65614192 [Gene]
  • LOC126860058:MED14-independent group 3 enhancer GRCh37_chr7:66809463-66810662 [Gene]
  • LOC126860061:MED14-independent group 3 enhancer GRCh37_chr7:67710694-67711893 [Gene]
  • LOC126860064:MED14-independent group 3 enhancer GRCh37_chr7:68445097-68446296 [Gene]
  • LOC126860069:MED14-independent group 3 enhancer GRCh37_chr7:70300982-70302181 [Gene]
  • LOC126860070:MED14-independent group 3 enhancer GRCh37_chr7:71870231-71871430 [Gene]
  • LOC126860073:MED14-independent group 3 enhancer GRCh37_chr7:73236582-73237781 [Gene]
  • MLXIPL:MLX interacting protein like [Gene - OMIM - HGNC]
  • LOC129389798:MPRA-validated peak6529 silencer [Gene]
  • LOC129389799:MPRA-validated peak6531 silencer [Gene]
  • LOC129389800:MPRA-validated peak6534 silencer [Gene]
  • LOC129389801:MPRA-validated peak6535 silencer [Gene]
  • LOC129389802:MPRA-validated peak6536 silencer [Gene]
  • LOC129389803:MPRA-validated peak6540 silencer [Gene]
  • LOC129389804:MPRA-validated peak6545 silencer [Gene]
  • LOC129389805:MPRA-validated peak6547 silencer [Gene]
  • LOC129389806:MPRA-validated peak6548 silencer [Gene]
  • LOC129389807:MPRA-validated peak6549 silencer [Gene]
  • LOC129389808:MPRA-validated peak6550 silencer [Gene]
  • LOC129389809:MPRA-validated peak6551 silencer [Gene]
  • LOC129389810:MPRA-validated peak6556 silencer [Gene]
  • LOC129389811:MPRA-validated peak6564 silencer [Gene]
  • LOC129389812:MPRA-validated peak6577 silencer [Gene]
  • LOC129389813:MPRA-validated peak6582 silencer [Gene]
  • LOC111413044:NFE2L2 motif-containing MPRA enhancer 193 [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • LOC132089553:Neanderthal introgressed variant-containing enhancer experimental_99850 [Gene]
  • LOC132089554:Neanderthal introgressed variant-containing enhancer experimental_99892 [Gene]
  • LOC132089555:Neanderthal introgressed variant-containing enhancer experimental_99965 [Gene]
  • LOC126860062:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:67974239-67975438 [Gene]
  • LOC126860065:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:68466879-68468078 [Gene]
  • LOC126860072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 [Gene]
  • POM121C:POM121 transmembrane nucleoporin C [Gene - OMIM - HGNC]
  • POM121:POM121 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • RABGEF1:RAB guanine nucleotide exchange factor 1 [Gene - OMIM - HGNC]
  • RCC1L:RCC1 like [Gene - HGNC]
  • SBDS:SBDS ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC123956159:Sharpr-MPRA regulatory region 10074 [Gene]
  • LOC123956162:Sharpr-MPRA regulatory region 1083 [Gene]
  • LOC123956163:Sharpr-MPRA regulatory region 11240 [Gene]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC123956155:Sharpr-MPRA regulatory region 11837 [Gene]
  • LOC113748411:Sharpr-MPRA regulatory region 11846 [Gene]
  • LOC113748403:Sharpr-MPRA regulatory region 12132 [Gene]
  • LOC113748404:Sharpr-MPRA regulatory region 12375 [Gene]
  • LOC123956157:Sharpr-MPRA regulatory region 1350 [Gene]
  • LOC113748409:Sharpr-MPRA regulatory region 14121 [Gene]
  • LOC121740683:Sharpr-MPRA regulatory region 14266 [Gene]
  • LOC123956164:Sharpr-MPRA regulatory region 2459 [Gene]
  • LOC113748406:Sharpr-MPRA regulatory region 3958 [Gene]
  • LOC123956160:Sharpr-MPRA regulatory region 5103 [Gene]
  • LOC113748410:Sharpr-MPRA regulatory region 6518 [Gene]
  • LOC123956154:Sharpr-MPRA regulatory region 6763 [Gene]
  • LOC113748405:Sharpr-MPRA regulatory region 7945 [Gene]
  • LOC121740685:Sharpr-MPRA regulatory region 817 [Gene]
  • LOC121740686:Sharpr-MPRA regulatory region 8209 [Gene]
  • LOC113748408:Sharpr-MPRA regulatory region 8580 [Gene]
  • LOC123956161:Sharpr-MPRA regulatory region 8848 [Gene]
  • LOC123956158:Sharpr-MPRA regulatory region 8911 [Gene]
  • LOC113748407:Sharpr-MPRA regulatory region 8994 [Gene]
  • LOC123956156:Sharpr-MPRA regulatory region 9158 [Gene]
  • LOC121175346:Sharpr-MPRA regulatory region 9451 [Gene]
  • LOC121740684:Sharpr-MPRA regulatory region 9636 [Gene]
  • LOC110121097:VISTA enhancer hs1425 [Gene]
  • LOC110121181:VISTA enhancer hs1660 [Gene]
  • LOC110121297:VISTA enhancer hs2315 [Gene]
  • LOC110121298:VISTA enhancer hs2316 [Gene]
  • LOC110121299:VISTA enhancer hs2317 [Gene]
  • LOC110121300:VISTA enhancer hs2318 [Gene]
  • LOC110120735:VISTA enhancer hs658 [Gene]
  • LOC110120804:VISTA enhancer hs925 [Gene]
  • VPS37D:VPS37D subunit of ESCRT-I [Gene - OMIM - HGNC]
  • LOC106029311:Williams-Beuren syndrome centromeric block B recombination region [Gene]
  • LOC106029312:Williams-Beuren syndrome medial block B recombination region [Gene]
  • LOC106029313:Williams-Beuren syndrome telomeric block B recombination region [Gene]
  • ABHD11:abhydrolase domain containing 11 [Gene - HGNC]
  • AUTS2:activator of transcription and developmental regulator AUTS2 [Gene - OMIM - HGNC]
  • ASL:argininosuccinate lyase [Gene - OMIM - HGNC]
  • BAZ1B:bromodomain adjacent to zinc finger domain 1B [Gene - OMIM - HGNC]
  • CALN1:calneuron 1 [Gene - OMIM - HGNC]
  • CT66:cancer/testis associated transcript 66 [Gene - HGNC]
  • CICP24:capicua transcriptional repressor pseudogene 24 [Gene - HGNC]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • CASTOR2:cytosolic arginine sensor for mTORC1 subunit 2 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • ERV3-1:endogenous retrovirus group 3 member 1, envelope [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • GUSB:glucuronidase beta [Gene - OMIM - HGNC]
  • LOC108004522:heart enhancer 21 [Gene]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • LINC01005:long intergenic non-protein coding RNA 1005 [Gene - HGNC]
  • LINC01372:long intergenic non-protein coding RNA 1372 [Gene - HGNC]
  • LINC00174:long intergenic non-protein coding RNA 174 [Gene - HGNC]
  • LINC02604:long intergenic non-protein coding RNA 2604 [Gene - HGNC]
  • LINC02848:long intergenic non-protein coding RNA 2848 [Gene - HGNC]
  • LINC03006:long intergenic non-protein coding RNA 3006 [Gene - HGNC]
  • LINC03011:long intergenic non-protein coding RNA 3011 [Gene - HGNC]
  • METTL27:methyltransferase like 27 [Gene - OMIM - HGNC]
  • MIR10525:microRNA 10525 [Gene - HGNC]
  • MIR3914-1:microRNA 3914-1 [Gene - HGNC]
  • MIR3914-2:microRNA 3914-2 [Gene - HGNC]
  • MIR4283-2:microRNA 4283-2 [Gene - HGNC]
  • MIR4284:microRNA 4284 [Gene - HGNC]
  • MIR4650-1:microRNA 4650-1 [Gene - HGNC]
  • MIR4650-2:microRNA 4650-2 [Gene - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • MIR6839:microRNA 6839 [Gene - HGNC]
  • NCF1:neutrophil cytosolic factor 1 [Gene - OMIM - HGNC]
  • GALNT17:polypeptide N-acetylgalactosaminyltransferase 17 [Gene - OMIM - HGNC]
  • KCTD7:potassium channel tetramerization domain containing 7 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • SNORA15B-1:small nucleolar RNA, H/ACA box 15B-1 [Gene - HGNC]
  • SNORA15B-2:small nucleolar RNA, H/ACA box 15B-2 [Gene - HGNC]
  • SNORA22:small nucleolar RNA, H/ACA box 22 [Gene - HGNC]
  • SNORA22C:small nucleolar RNA, H/ACA box 22C [Gene - HGNC]
  • SPDYE10:speedy/RINGO cell cycle regulator family member E10 [Gene - HGNC]
  • SPDYE11:speedy/RINGO cell cycle regulator family member E11 [Gene - HGNC]
  • SPDYE12:speedy/RINGO cell cycle regulator family member E12 [Gene - HGNC]
  • SPDYE13:speedy/RINGO cell cycle regulator family member E13 [Gene - HGNC]
  • SPDYE14:speedy/RINGO cell cycle regulator family member E14 [Gene - HGNC]
  • SPDYE15:speedy/RINGO cell cycle regulator family member E15 [Gene - HGNC]
  • SPDYE21:speedy/RINGO cell cycle regulator family member E21 [Gene - HGNC]
  • SPDYE7P:speedy/RINGO cell cycle regulator family member E7, pseudogene [Gene - HGNC]
  • SPDYE8:speedy/RINGO cell cycle regulator family member E8 [Gene - HGNC]
  • SPDYE9:speedy/RINGO cell cycle regulator family member E9 [Gene - HGNC]
  • STX1A:syntaxin 1A [Gene - OMIM - HGNC]
  • TYW1B:tRNA-yW synthesizing protein 1 homolog B [Gene - HGNC]
  • TYW1:tRNA-yW synthesizing protein 1 homolog [Gene - OMIM - HGNC]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM248:transmembrane protein 248 [Gene - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TRIM50:tripartite motif containing 50 [Gene - OMIM - HGNC]
  • TRIM73:tripartite motif containing 73 [Gene - OMIM - HGNC]
  • TRIM74:tripartite motif containing 74 [Gene - OMIM - HGNC]
  • TPST1:tyrosylprotein sulfotransferase 1 [Gene - OMIM - HGNC]
  • LOC100128885:uncharacterized LOC100128885 [Gene]
  • LOC100287704:uncharacterized LOC100287704 [Gene]
  • LOC100287834:uncharacterized LOC100287834 [Gene]
  • LOC100996437:uncharacterized LOC100996437 [Gene]
  • LOC101929050:uncharacterized LOC101929050 [Gene]
  • LOC102723427:uncharacterized LOC102723427 [Gene]
  • LOC105375341:uncharacterized LOC105375341 [Gene]
  • LOC105375342:uncharacterized LOC105375342 [Gene]
  • VKORC1L1:vitamin K epoxide reductase complex subunit 1 like 1 [Gene - OMIM - HGNC]
  • ZNF107:zinc finger protein 107 [Gene - OMIM - HGNC]
  • ZNF117:zinc finger protein 117 [Gene - OMIM - HGNC]
  • ZNF138:zinc finger protein 138 [Gene - OMIM - HGNC]
  • ZNF273:zinc finger protein 273 [Gene - OMIM - HGNC]
  • ZNF679:zinc finger protein 679 [Gene - HGNC]
  • ZNF680:zinc finger protein 680 [Gene - HGNC]
  • ZNF722:zinc finger protein 722 [Gene - HGNC]
  • ZNF727:zinc finger protein 727 [Gene - HGNC]
  • ZNF735:zinc finger protein 735 [Gene - HGNC]
  • ZNF736:zinc finger protein 736 [Gene - HGNC]
  • ZNF92:zinc finger protein 92 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q11.21-11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1
HGVS:
  • NC_000007.14:g.(?_62736364)_(75432710_?)del
  • NC_000007.12:g.(?_61834177)_(74899922_?)del
  • NC_000007.13:g.(?_62196742)_(75061986_?)del
Links:
dbVar: nssv584436; dbVar: nsv498055
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
SCV000174571ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 5, 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

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, SCV000174571.4

#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