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GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000054111.5

Allele description [Variation Report for GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1]

GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1

Genes:
  • LOC108228209:7q11.23 distal recombination region [Gene]
  • LOC108228208:7q11.23 proximal recombination region [Gene]
  • ABHD11-AS1:ABHD11 antisense RNA 1 (tail to tail) [Gene - OMIM - HGNC]
  • 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]
  • LOC129998669:ATAC-STARR-seq lymphoblastoid active region 26177 [Gene]
  • LOC129998672:ATAC-STARR-seq lymphoblastoid active region 26178 [Gene]
  • LOC129998673:ATAC-STARR-seq lymphoblastoid active region 26179 [Gene]
  • LOC129998675:ATAC-STARR-seq lymphoblastoid active region 26180 [Gene]
  • LOC129998677:ATAC-STARR-seq lymphoblastoid active region 26181 [Gene]
  • LOC129998678:ATAC-STARR-seq lymphoblastoid active region 26182 [Gene]
  • LOC129998679:ATAC-STARR-seq lymphoblastoid active region 26183 [Gene]
  • LOC129998681:ATAC-STARR-seq lymphoblastoid active region 26184 [Gene]
  • LOC129998682:ATAC-STARR-seq lymphoblastoid active region 26185 [Gene]
  • LOC129998683:ATAC-STARR-seq lymphoblastoid active region 26186 [Gene]
  • LOC129998684:ATAC-STARR-seq lymphoblastoid active region 26187 [Gene]
  • LOC129998687:ATAC-STARR-seq lymphoblastoid active region 26188 [Gene]
  • LOC129998688:ATAC-STARR-seq lymphoblastoid active region 26191 [Gene]
  • LOC129998689:ATAC-STARR-seq lymphoblastoid active region 26192 [Gene]
  • LOC129998691:ATAC-STARR-seq lymphoblastoid active region 26193 [Gene]
  • LOC129998694:ATAC-STARR-seq lymphoblastoid active region 26194 [Gene]
  • LOC129998695:ATAC-STARR-seq lymphoblastoid active region 26195 [Gene]
  • LOC129998697:ATAC-STARR-seq lymphoblastoid active region 26197 [Gene]
  • LOC129998700:ATAC-STARR-seq lymphoblastoid active region 26200 [Gene]
  • LOC129998701:ATAC-STARR-seq lymphoblastoid active region 26202 [Gene]
  • LOC129998702:ATAC-STARR-seq lymphoblastoid active region 26203 [Gene]
  • LOC129998704:ATAC-STARR-seq lymphoblastoid active region 26204 [Gene]
  • LOC129998710:ATAC-STARR-seq lymphoblastoid active region 26205 [Gene]
  • LOC129998711:ATAC-STARR-seq lymphoblastoid active region 26206 [Gene]
  • LOC129998716:ATAC-STARR-seq lymphoblastoid active region 26208 [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]
  • LOC129929028:ATAC-STARR-seq lymphoblastoid silent region 18294 [Gene]
  • LOC129998670:ATAC-STARR-seq lymphoblastoid silent region 18295 [Gene]
  • LOC129998671:ATAC-STARR-seq lymphoblastoid silent region 18297 [Gene]
  • LOC129998674:ATAC-STARR-seq lymphoblastoid silent region 18298 [Gene]
  • LOC129998676:ATAC-STARR-seq lymphoblastoid silent region 18299 [Gene]
  • LOC129998680:ATAC-STARR-seq lymphoblastoid silent region 18302 [Gene]
  • LOC129998685:ATAC-STARR-seq lymphoblastoid silent region 18303 [Gene]
  • LOC129998686:ATAC-STARR-seq lymphoblastoid silent region 18304 [Gene]
  • LOC129998690:ATAC-STARR-seq lymphoblastoid silent region 18306 [Gene]
  • LOC129998692:ATAC-STARR-seq lymphoblastoid silent region 18307 [Gene]
  • LOC129998693:ATAC-STARR-seq lymphoblastoid silent region 18308 [Gene]
  • LOC129998696:ATAC-STARR-seq lymphoblastoid silent region 18310 [Gene]
  • LOC129998698:ATAC-STARR-seq lymphoblastoid silent region 18315 [Gene]
  • LOC129998699:ATAC-STARR-seq lymphoblastoid silent region 18316 [Gene]
  • LOC129998703:ATAC-STARR-seq lymphoblastoid silent region 18318 [Gene]
  • LOC129998705:ATAC-STARR-seq lymphoblastoid silent region 18319 [Gene]
  • LOC129998706:ATAC-STARR-seq lymphoblastoid silent region 18320 [Gene]
  • LOC129998707:ATAC-STARR-seq lymphoblastoid silent region 18321 [Gene]
  • LOC129998708:ATAC-STARR-seq lymphoblastoid silent region 18322 [Gene]
  • LOC129998709:ATAC-STARR-seq lymphoblastoid silent region 18323 [Gene]
  • LOC129998712:ATAC-STARR-seq lymphoblastoid silent region 18324 [Gene]
  • LOC129998713:ATAC-STARR-seq lymphoblastoid silent region 18325 [Gene]
  • LOC129998714:ATAC-STARR-seq lymphoblastoid silent region 18326 [Gene]
  • LOC129998715:ATAC-STARR-seq lymphoblastoid silent region 18329 [Gene]
  • LOC129998717:ATAC-STARR-seq lymphoblastoid silent region 18330 [Gene]
  • APTR:Alu-mediated CDKN1A/p21 transcriptional regulator [Gene - OMIM - HGNC]
  • BCL7B:BAF chromatin remodeling complex subunit BCL7B [Gene - OMIM - HGNC]
  • LOC126860071:BRD4-independent group 4 enhancer GRCh37_chr7:72396775-72397974 [Gene]
  • BUD23:BUD23 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • CCL24:C-C motif chemokine ligand 24 [Gene - OMIM - HGNC]
  • CCL26:C-C motif chemokine ligand 26 [Gene - OMIM - HGNC]
  • LOC108254673:CAGE-defined high expression enhancer upstream of GTF2IRD1 [Gene]
  • CLIP2:CAP-Gly domain containing linker protein 2 [Gene - OMIM - HGNC]
  • LOC126860068:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:69969942-69971141 [Gene]
  • LOC126860074:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:73417073-73418272 [Gene]
  • LOC126860075:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:75612087-75613286 [Gene]
  • LOC126860076:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:76357185-76358384 [Gene]
  • LOC116183091:CRISPRi-validated cis-regulatory element chr7.2946 [Gene]
  • DNAJC30:DnaJ heat shock protein family (Hsp40) member C30 [Gene - OMIM - HGNC]
  • ELN-AS1:ELN antisense RNA 1 [Gene - HGNC]
  • 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]
  • 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]
  • LOC129389811:MPRA-validated peak6564 silencer [Gene]
  • LOC129389812:MPRA-validated peak6577 silencer [Gene]
  • LOC129389813:MPRA-validated peak6582 silencer [Gene]
  • LOC129389814:MPRA-validated peak6604 silencer [Gene]
  • LOC129389815:MPRA-validated peak6610 silencer [Gene]
  • LOC129389816:MPRA-validated peak6611 silencer [Gene]
  • LOC129389817:MPRA-validated peak6614 silencer [Gene]
  • LOC129389818:MPRA-validated peak6615 silencer [Gene]
  • LOC111413044:NFE2L2 motif-containing MPRA enhancer 193 [Gene]
  • NSUN5:NOP2/Sun RNA methyltransferase 5 [Gene - OMIM - HGNC]
  • LOC132089554:Neanderthal introgressed variant-containing enhancer experimental_99892 [Gene]
  • LOC132089555:Neanderthal introgressed variant-containing enhancer experimental_99965 [Gene]
  • LOC126860072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:73156848-73158047 [Gene]
  • LOC126860077:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:77021860-77023059 [Gene]
  • POMZP3:POM121 and ZP3 fusion [Gene - OMIM - HGNC]
  • POM121C:POM121 transmembrane nucleoporin C [Gene - OMIM - HGNC]
  • POM121:POM121 transmembrane nucleoporin [Gene - OMIM - HGNC]
  • RCC1L:RCC1 like [Gene - HGNC]
  • LOC123956159:Sharpr-MPRA regulatory region 10074 [Gene]
  • LOC121740687:Sharpr-MPRA regulatory region 1050 [Gene]
  • LOC121740688:Sharpr-MPRA regulatory region 10512 [Gene]
  • LOC123956162:Sharpr-MPRA regulatory region 1083 [Gene]
  • LOC123956170:Sharpr-MPRA regulatory region 11180 [Gene]
  • LOC123956169:Sharpr-MPRA regulatory region 1121 [Gene]
  • LOC123956163:Sharpr-MPRA regulatory region 11240 [Gene]
  • LOC121175345:Sharpr-MPRA regulatory region 11638 [Gene]
  • LOC113748411:Sharpr-MPRA regulatory region 11846 [Gene]
  • LOC123956166:Sharpr-MPRA regulatory region 12151 [Gene]
  • LOC123956165:Sharpr-MPRA regulatory region 13243 [Gene]
  • LOC123956157:Sharpr-MPRA regulatory region 1350 [Gene]
  • LOC121175347:Sharpr-MPRA regulatory region 14050 [Gene]
  • LOC113748409:Sharpr-MPRA regulatory region 14121 [Gene]
  • LOC123956164:Sharpr-MPRA regulatory region 2459 [Gene]
  • LOC123956167:Sharpr-MPRA regulatory region 2709 [Gene]
  • LOC123956172:Sharpr-MPRA regulatory region 3059 [Gene]
  • LOC123956168:Sharpr-MPRA regulatory region 3792 [Gene]
  • LOC113748406:Sharpr-MPRA regulatory region 3958 [Gene]
  • LOC113748413:Sharpr-MPRA regulatory region 5015 [Gene]
  • LOC123956160:Sharpr-MPRA regulatory region 5103 [Gene]
  • LOC113748412:Sharpr-MPRA regulatory region 5953 [Gene]
  • LOC113748410:Sharpr-MPRA regulatory region 6518 [Gene]
  • LOC113748414:Sharpr-MPRA regulatory region 7220 [Gene]
  • LOC121740686:Sharpr-MPRA regulatory region 8209 [Gene]
  • LOC113748408:Sharpr-MPRA regulatory region 8580 [Gene]
  • LOC123956171:Sharpr-MPRA regulatory region 8731 [Gene]
  • LOC123956161:Sharpr-MPRA regulatory region 8848 [Gene]
  • LOC123956158:Sharpr-MPRA regulatory region 8911 [Gene]
  • LOC113748407:Sharpr-MPRA regulatory region 8994 [Gene]
  • LOC121175346:Sharpr-MPRA regulatory region 9451 [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]
  • 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]
  • CLDN3:claudin 3 [Gene - OMIM - HGNC]
  • CLDN4:claudin 4 [Gene - OMIM - HGNC]
  • CCDC146:coiled-coil domain containing 146 [Gene - OMIM - HGNC]
  • POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
  • CASTOR2:cytosolic arginine sensor for mTORC1 subunit 2 [Gene - OMIM - HGNC]
  • DTX2:deltex E3 ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • ELN:elastin [Gene - OMIM - HGNC]
  • EIF4H:eukaryotic translation initiation factor 4H [Gene - OMIM - HGNC]
  • FGL2:fibrinogen like 2 [Gene - OMIM - HGNC]
  • FPASL:fibroblast proliferation associated lncRNA [Gene - HGNC]
  • FZD9:frizzled class receptor 9 [Gene - OMIM - HGNC]
  • GSAP:gamma-secretase activating protein [Gene - OMIM - HGNC]
  • GTF2I:general transcription factor IIi [Gene - OMIM - HGNC]
  • LOC108004522:heart enhancer 21 [Gene]
  • HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
  • HIP1:huntingtin interacting protein 1 [Gene - OMIM - HGNC]
  • LAT2:linker for activation of T cells family member 2 [Gene - OMIM - HGNC]
  • LINC03009:long intergenic non-protein coding RNA 3009 [Gene - HGNC]
  • MDH2:malate dehydrogenase 2 [Gene - OMIM - 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]
  • MIR4284:microRNA 4284 [Gene - HGNC]
  • MIR4650-2:microRNA 4650-2 [Gene - HGNC]
  • MIR4651:microRNA 4651 [Gene - HGNC]
  • MIR590:microRNA 590 [Gene - OMIM - HGNC]
  • NCF1:neutrophil cytosolic factor 1 [Gene - OMIM - HGNC]
  • GALNT17:polypeptide N-acetylgalactosaminyltransferase 17 [Gene - OMIM - HGNC]
  • PTPN12:protein tyrosine phosphatase non-receptor type 12 [Gene - OMIM - HGNC]
  • PHTF2:putative homeodomain transcription factor 2 [Gene - OMIM - HGNC]
  • RFC2:replication factor C subunit 2 [Gene - OMIM - HGNC]
  • RHBDD2:rhomboid domain containing 2 [Gene - OMIM - HGNC]
  • RSBN1L:round spermatid basic protein 1 like [Gene - HGNC]
  • SSC4D:scavenger receptor cysteine rich family member with 4 domains [Gene - OMIM - HGNC]
  • SRRM3:serine/arginine repetitive matrix 3 [Gene - HGNC]
  • STYXL1:serine/threonine/tyrosine interacting like 1 [Gene - OMIM - HGNC]
  • SNORA14A:small nucleolar RNA, H/ACA box 14A [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]
  • SPDYE16:speedy/RINGO cell cycle regulator family member E16 [Gene - HGNC]
  • SPDYE17:speedy/RINGO cell cycle regulator family member E17 [Gene - HGNC]
  • SPDYE18:speedy/RINGO cell cycle regulator family member E18 [Gene - HGNC]
  • SPDYE5:speedy/RINGO cell cycle regulator family member E5 [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]
  • TBL2:transducin beta like 2 [Gene - OMIM - HGNC]
  • TMEM120A:transmembrane protein 120A [Gene - OMIM - HGNC]
  • TMEM270:transmembrane protein 270 [Gene - OMIM - HGNC]
  • TMEM60:transmembrane protein 60 [Gene - 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]
  • YWHAG:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Gene - OMIM - HGNC]
  • LOC101927243:uncharacterized LOC101927243 [Gene]
  • UPK3B:uroplakin 3B [Gene - OMIM - HGNC]
  • ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q11.22-11.23
Genomic location:
Preferred name:
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1
HGVS:
  • NC_000007.14:g.(?_69382353)_(77823832_?)del
  • NC_000007.12:g.(?_68485275)_(77291085_?)del
  • NC_000007.13:g.(?_68847339)_(77453149_?)del
Links:
dbVar: nssv578190; dbVar: nsv532780
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
SCV000081475GeneDx
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, SCV000081475.5

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

Last Updated: Oct 14, 2023