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GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)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:
RCV000053356.5

Allele description [Variation Report for GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1]

GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1

Genes:
  • LOC130059322:ATAC-STARR-seq lymphoblastoid active region 11048 [Gene]
  • LOC130059323:ATAC-STARR-seq lymphoblastoid active region 11049 [Gene]
  • LOC130059326:ATAC-STARR-seq lymphoblastoid active region 11050 [Gene]
  • LOC130059327:ATAC-STARR-seq lymphoblastoid active region 11051 [Gene]
  • LOC130059329:ATAC-STARR-seq lymphoblastoid active region 11054 [Gene]
  • LOC130059330:ATAC-STARR-seq lymphoblastoid active region 11055 [Gene]
  • LOC130059331:ATAC-STARR-seq lymphoblastoid active region 11056 [Gene]
  • LOC130059332:ATAC-STARR-seq lymphoblastoid active region 11057 [Gene]
  • LOC130059333:ATAC-STARR-seq lymphoblastoid active region 11058 [Gene]
  • LOC130059334:ATAC-STARR-seq lymphoblastoid active region 11059 [Gene]
  • LOC130059335:ATAC-STARR-seq lymphoblastoid active region 11061 [Gene]
  • LOC130059336:ATAC-STARR-seq lymphoblastoid active region 11063 [Gene]
  • LOC130059339:ATAC-STARR-seq lymphoblastoid active region 11064 [Gene]
  • LOC130059340:ATAC-STARR-seq lymphoblastoid active region 11065 [Gene]
  • LOC130059341:ATAC-STARR-seq lymphoblastoid active region 11066 [Gene]
  • LOC130059342:ATAC-STARR-seq lymphoblastoid active region 11067 [Gene]
  • LOC130059343:ATAC-STARR-seq lymphoblastoid active region 11068 [Gene]
  • LOC130059346:ATAC-STARR-seq lymphoblastoid active region 11071 [Gene]
  • LOC130059347:ATAC-STARR-seq lymphoblastoid active region 11072 [Gene]
  • LOC130059348:ATAC-STARR-seq lymphoblastoid active region 11073 [Gene]
  • LOC130059349:ATAC-STARR-seq lymphoblastoid active region 11074 [Gene]
  • LOC130059350:ATAC-STARR-seq lymphoblastoid active region 11075 [Gene]
  • LOC130059354:ATAC-STARR-seq lymphoblastoid active region 11076 [Gene]
  • LOC130059356:ATAC-STARR-seq lymphoblastoid active region 11078 [Gene]
  • LOC130059357:ATAC-STARR-seq lymphoblastoid active region 11079 [Gene]
  • LOC130059358:ATAC-STARR-seq lymphoblastoid active region 11080 [Gene]
  • LOC130059359:ATAC-STARR-seq lymphoblastoid active region 11083 [Gene]
  • LOC130059360:ATAC-STARR-seq lymphoblastoid active region 11084 [Gene]
  • LOC130059361:ATAC-STARR-seq lymphoblastoid active region 11085 [Gene]
  • LOC130059364:ATAC-STARR-seq lymphoblastoid active region 11088 [Gene]
  • LOC130059365:ATAC-STARR-seq lymphoblastoid active region 11089 [Gene]
  • LOC130059366:ATAC-STARR-seq lymphoblastoid active region 11090 [Gene]
  • LOC130059367:ATAC-STARR-seq lymphoblastoid active region 11091 [Gene]
  • LOC130059368:ATAC-STARR-seq lymphoblastoid active region 11092 [Gene]
  • LOC130059369:ATAC-STARR-seq lymphoblastoid active region 11093 [Gene]
  • LOC130059370:ATAC-STARR-seq lymphoblastoid active region 11094 [Gene]
  • LOC130059371:ATAC-STARR-seq lymphoblastoid active region 11095 [Gene]
  • LOC130059372:ATAC-STARR-seq lymphoblastoid active region 11096 [Gene]
  • LOC130059373:ATAC-STARR-seq lymphoblastoid active region 11097 [Gene]
  • LOC130059374:ATAC-STARR-seq lymphoblastoid active region 11098 [Gene]
  • LOC130059375:ATAC-STARR-seq lymphoblastoid active region 11099 [Gene]
  • LOC130059376:ATAC-STARR-seq lymphoblastoid active region 11100 [Gene]
  • LOC130059378:ATAC-STARR-seq lymphoblastoid active region 11101 [Gene]
  • LOC130059382:ATAC-STARR-seq lymphoblastoid active region 11103 [Gene]
  • LOC130059383:ATAC-STARR-seq lymphoblastoid active region 11104 [Gene]
  • LOC130059384:ATAC-STARR-seq lymphoblastoid active region 11105 [Gene]
  • LOC130059386:ATAC-STARR-seq lymphoblastoid active region 11107 [Gene]
  • LOC130059390:ATAC-STARR-seq lymphoblastoid active region 11108 [Gene]
  • LOC130059391:ATAC-STARR-seq lymphoblastoid active region 11109 [Gene]
  • LOC130059392:ATAC-STARR-seq lymphoblastoid active region 11110 [Gene]
  • LOC130059397:ATAC-STARR-seq lymphoblastoid active region 11111 [Gene]
  • LOC130059399:ATAC-STARR-seq lymphoblastoid active region 11112 [Gene]
  • LOC130059402:ATAC-STARR-seq lymphoblastoid active region 11113 [Gene]
  • LOC130059403:ATAC-STARR-seq lymphoblastoid active region 11114 [Gene]
  • LOC130059404:ATAC-STARR-seq lymphoblastoid active region 11115 [Gene]
  • LOC130059405:ATAC-STARR-seq lymphoblastoid active region 11116 [Gene]
  • LOC130059406:ATAC-STARR-seq lymphoblastoid active region 11117 [Gene]
  • LOC130059407:ATAC-STARR-seq lymphoblastoid active region 11119 [Gene]
  • LOC130059410:ATAC-STARR-seq lymphoblastoid active region 11120 [Gene]
  • LOC130059411:ATAC-STARR-seq lymphoblastoid active region 11121 [Gene]
  • LOC130059412:ATAC-STARR-seq lymphoblastoid active region 11122 [Gene]
  • LOC130059413:ATAC-STARR-seq lymphoblastoid active region 11123 [Gene]
  • LOC130059415:ATAC-STARR-seq lymphoblastoid active region 11124 [Gene]
  • LOC130059417:ATAC-STARR-seq lymphoblastoid active region 11125 [Gene]
  • LOC130059419:ATAC-STARR-seq lymphoblastoid active region 11126 [Gene]
  • LOC130059427:ATAC-STARR-seq lymphoblastoid active region 11127 [Gene]
  • LOC130059428:ATAC-STARR-seq lymphoblastoid active region 11128 [Gene]
  • LOC130059429:ATAC-STARR-seq lymphoblastoid active region 11129 [Gene]
  • LOC130059431:ATAC-STARR-seq lymphoblastoid active region 11131 [Gene]
  • LOC130059432:ATAC-STARR-seq lymphoblastoid active region 11132 [Gene]
  • LOC130059433:ATAC-STARR-seq lymphoblastoid active region 11133 [Gene]
  • LOC130059434:ATAC-STARR-seq lymphoblastoid active region 11134 [Gene]
  • LOC130059438:ATAC-STARR-seq lymphoblastoid active region 11135 [Gene]
  • LOC130059439:ATAC-STARR-seq lymphoblastoid active region 11136 [Gene]
  • LOC130059442:ATAC-STARR-seq lymphoblastoid active region 11137 [Gene]
  • LOC130059443:ATAC-STARR-seq lymphoblastoid active region 11138 [Gene]
  • LOC130059445:ATAC-STARR-seq lymphoblastoid active region 11139 [Gene]
  • LOC130059446:ATAC-STARR-seq lymphoblastoid active region 11140 [Gene]
  • LOC130059448:ATAC-STARR-seq lymphoblastoid active region 11141 [Gene]
  • LOC130059449:ATAC-STARR-seq lymphoblastoid active region 11142 [Gene]
  • LOC130059450:ATAC-STARR-seq lymphoblastoid active region 11144 [Gene]
  • LOC130059451:ATAC-STARR-seq lymphoblastoid active region 11146 [Gene]
  • LOC130059452:ATAC-STARR-seq lymphoblastoid active region 11147 [Gene]
  • LOC130059453:ATAC-STARR-seq lymphoblastoid active region 11148 [Gene]
  • LOC130059324:ATAC-STARR-seq lymphoblastoid silent region 7669 [Gene]
  • LOC130059325:ATAC-STARR-seq lymphoblastoid silent region 7670 [Gene]
  • LOC130059328:ATAC-STARR-seq lymphoblastoid silent region 7671 [Gene]
  • LOC130059337:ATAC-STARR-seq lymphoblastoid silent region 7672 [Gene]
  • LOC130059338:ATAC-STARR-seq lymphoblastoid silent region 7673 [Gene]
  • LOC130059344:ATAC-STARR-seq lymphoblastoid silent region 7675 [Gene]
  • LOC130059345:ATAC-STARR-seq lymphoblastoid silent region 7676 [Gene]
  • LOC130059351:ATAC-STARR-seq lymphoblastoid silent region 7679 [Gene]
  • LOC130059352:ATAC-STARR-seq lymphoblastoid silent region 7681 [Gene]
  • LOC130059353:ATAC-STARR-seq lymphoblastoid silent region 7682 [Gene]
  • LOC130059355:ATAC-STARR-seq lymphoblastoid silent region 7684 [Gene]
  • LOC130059362:ATAC-STARR-seq lymphoblastoid silent region 7686 [Gene]
  • LOC130059363:ATAC-STARR-seq lymphoblastoid silent region 7687 [Gene]
  • LOC130059377:ATAC-STARR-seq lymphoblastoid silent region 7689 [Gene]
  • LOC130059379:ATAC-STARR-seq lymphoblastoid silent region 7692 [Gene]
  • LOC130059380:ATAC-STARR-seq lymphoblastoid silent region 7693 [Gene]
  • LOC130059381:ATAC-STARR-seq lymphoblastoid silent region 7694 [Gene]
  • LOC130059385:ATAC-STARR-seq lymphoblastoid silent region 7695 [Gene]
  • LOC130059387:ATAC-STARR-seq lymphoblastoid silent region 7697 [Gene]
  • LOC130059388:ATAC-STARR-seq lymphoblastoid silent region 7698 [Gene]
  • LOC130059389:ATAC-STARR-seq lymphoblastoid silent region 7699 [Gene]
  • LOC130059393:ATAC-STARR-seq lymphoblastoid silent region 7700 [Gene]
  • LOC130059394:ATAC-STARR-seq lymphoblastoid silent region 7701 [Gene]
  • LOC130059395:ATAC-STARR-seq lymphoblastoid silent region 7702 [Gene]
  • LOC130059396:ATAC-STARR-seq lymphoblastoid silent region 7703 [Gene]
  • LOC130059398:ATAC-STARR-seq lymphoblastoid silent region 7704 [Gene]
  • LOC130059400:ATAC-STARR-seq lymphoblastoid silent region 7705 [Gene]
  • LOC130059401:ATAC-STARR-seq lymphoblastoid silent region 7706 [Gene]
  • LOC130059408:ATAC-STARR-seq lymphoblastoid silent region 7707 [Gene]
  • LOC130059409:ATAC-STARR-seq lymphoblastoid silent region 7708 [Gene]
  • LOC130059414:ATAC-STARR-seq lymphoblastoid silent region 7709 [Gene]
  • LOC130059416:ATAC-STARR-seq lymphoblastoid silent region 7710 [Gene]
  • LOC130059418:ATAC-STARR-seq lymphoblastoid silent region 7711 [Gene]
  • LOC130059420:ATAC-STARR-seq lymphoblastoid silent region 7712 [Gene]
  • LOC130059421:ATAC-STARR-seq lymphoblastoid silent region 7713 [Gene]
  • LOC130059422:ATAC-STARR-seq lymphoblastoid silent region 7714 [Gene]
  • LOC130059423:ATAC-STARR-seq lymphoblastoid silent region 7715 [Gene]
  • LOC130059424:ATAC-STARR-seq lymphoblastoid silent region 7716 [Gene]
  • LOC130059425:ATAC-STARR-seq lymphoblastoid silent region 7717 [Gene]
  • LOC130059426:ATAC-STARR-seq lymphoblastoid silent region 7718 [Gene]
  • LOC130059430:ATAC-STARR-seq lymphoblastoid silent region 7719 [Gene]
  • LOC130059435:ATAC-STARR-seq lymphoblastoid silent region 7721 [Gene]
  • LOC130059436:ATAC-STARR-seq lymphoblastoid silent region 7722 [Gene]
  • LOC130059437:ATAC-STARR-seq lymphoblastoid silent region 7723 [Gene]
  • LOC130059440:ATAC-STARR-seq lymphoblastoid silent region 7724 [Gene]
  • LOC130059441:ATAC-STARR-seq lymphoblastoid silent region 7725 [Gene]
  • LOC130059444:ATAC-STARR-seq lymphoblastoid silent region 7726 [Gene]
  • LOC130059447:ATAC-STARR-seq lymphoblastoid silent region 7727 [Gene]
  • LOC130059454:ATAC-STARR-seq lymphoblastoid silent region 7729 [Gene]
  • BCAR1:BCAR1 scaffold protein, Cas family member [Gene - OMIM - HGNC]
  • LOC126862387:BRD4-independent group 4 enhancer GRCh37_chr16:71113179-71114378 [Gene]
  • LOC126862389:BRD4-independent group 4 enhancer GRCh37_chr16:71507841-71509040 [Gene]
  • LOC111413029:BRD4-independent group 4 enhancer GRCh37_chr16:71605697-71606896 [Gene]
  • LOC126862394:BRD4-independent group 4 enhancer GRCh37_chr16:72804631-72805830 [Gene]
  • LOC126862396:BRD4-independent group 4 enhancer GRCh37_chr16:73266082-73267281 [Gene]
  • LOC126862399:BRD4-independent group 4 enhancer GRCh37_chr16:74793901-74795100 [Gene]
  • CLEC18A:C-type lectin domain family 18 member A [Gene - OMIM - HGNC]
  • CLEC18B:C-type lectin domain family 18 member B [Gene - OMIM - HGNC]
  • CLEC18C:C-type lectin domain family 18 member C [Gene - OMIM - HGNC]
  • LOC121587554:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71020999-71022198 [Gene]
  • LOC121587555:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:71042849-71044048 [Gene]
  • LOC126862391:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72141414-72142613 [Gene]
  • LOC126862393:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72324412-72325611 [Gene]
  • LOC126862395:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:72910943-72912142 [Gene]
  • LOC126862400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75095860-75097059 [Gene]
  • LOC126862402:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 [Gene]
  • LOC126862403:CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75854062-75855261 [Gene]
  • LOC108254672:CFDP1 intron CAGE-defined high expression enhancer [Gene]
  • DDX19A-DT:DDX19A divergent transcript [Gene - HGNC]
  • DDX19A:DEAD-box helicase 19A [Gene - HGNC]
  • DDX19B:DEAD-box helicase 19B [Gene - OMIM - HGNC]
  • DHX38:DEAH-box helicase 38 [Gene - OMIM - HGNC]
  • GABARAPL2:GABA type A receptor associated protein like 2 [Gene - OMIM - HGNC]
  • LOC108251797:HCCAT5-C16orf47 intergenic CAGE-defined high expression enhancer [Gene]
  • HYDIN:HYDIN axonemal central pair apparatus protein [Gene - OMIM - HGNC]
  • IST1:IST1 factor associated with ESCRT-III [Gene - OMIM - HGNC]
  • MARVELD3:MARVEL domain containing 3 [Gene - OMIM - HGNC]
  • LOC126862385:MED14-independent group 3 enhancer GRCh37_chr16:69950984-69952183 [Gene]
  • LOC126862386:MED14-independent group 3 enhancer GRCh37_chr16:70366483-70367682 [Gene]
  • LOC126862390:MED14-independent group 3 enhancer GRCh37_chr16:72057307-72058506 [Gene]
  • LOC126862392:MED14-independent group 3 enhancer GRCh37_chr16:72257113-72258312 [Gene]
  • LOC126862397:MED14-independent group 3 enhancer GRCh37_chr16:73951504-73952703 [Gene]
  • LOC126862398:MED14-independent group 3 enhancer GRCh37_chr16:74496013-74497212 [Gene]
  • LOC126862401:MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 [Gene]
  • LOC126862404:MED14-independent group 3 enhancer GRCh37_chr16:76749983-76751182 [Gene]
  • LOC129390808:MPRA-validated peak2633 silencer [Gene]
  • LOC129390809:MPRA-validated peak2636 silencer [Gene]
  • LOC129390810:MPRA-validated peak2638 silencer [Gene]
  • MTSS2:MTSS I-BAR domain containing 2 [Gene - OMIM - HGNC]
  • LOC132090391:Neanderthal introgressed variant-containing enhancer experimental_43990 [Gene]
  • LOC132090392:Neanderthal introgressed variant-containing enhancer experimental_44023 [Gene]
  • LOC132090393:Neanderthal introgressed variant-containing enhancer experimental_44041 [Gene]
  • LOC132090394:Neanderthal introgressed variant-containing enhancer experimental_44094 [Gene]
  • LOC132090395:Neanderthal introgressed variant-containing enhancer experimental_44118 [Gene]
  • LOC132090396:Neanderthal introgressed variant-containing enhancer experimental_44155 [Gene]
  • LOC132090397:Neanderthal introgressed variant-containing enhancer experimental_44255 [Gene]
  • LOC132090398:Neanderthal introgressed variant-containing enhancer experimental_44334 [Gene]
  • LOC132090400:Neanderthal introgressed variant-containing enhancer experimental_44395 [Gene]
  • LOC132090401:Neanderthal introgressed variant-containing enhancer experimental_44438 [Gene]
  • LOC132090402:Neanderthal introgressed variant-containing enhancer experimental_44671 [Gene]
  • LOC132090403:Neanderthal introgressed variant-containing enhancer experimental_44716 [Gene]
  • LOC126862388:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:71371582-71372781 [Gene]
  • PHLPP2:PH domain and leucine rich repeat protein phosphatase 2 [Gene - OMIM - HGNC]
  • PSMD7-DT:PSMD7 divergent transcript [Gene - HGNC]
  • ST3GAL2:ST3 beta-galactoside alpha-2,3-sialyltransferase 2 [Gene - OMIM - HGNC]
  • LOC112486207:Sharpr-MPRA regulatory region 10346 [Gene]
  • LOC125177350:Sharpr-MPRA regulatory region 11065 [Gene]
  • LOC112486205:Sharpr-MPRA regulatory region 11593 [Gene]
  • LOC125177346:Sharpr-MPRA regulatory region 1178 [Gene]
  • LOC121587553:Sharpr-MPRA regulatory region 12359 [Gene]
  • LOC125177352:Sharpr-MPRA regulatory region 12601 [Gene]
  • LOC121847991:Sharpr-MPRA regulatory region 12749 [Gene]
  • LOC121587561:Sharpr-MPRA regulatory region 14271 [Gene]
  • LOC125177347:Sharpr-MPRA regulatory region 1449 [Gene]
  • LOC125177353:Sharpr-MPRA regulatory region 14871 [Gene]
  • LOC121587556:Sharpr-MPRA regulatory region 14967 [Gene]
  • LOC125177349:Sharpr-MPRA regulatory region 15378 [Gene]
  • LOC121847992:Sharpr-MPRA regulatory region 2157 [Gene]
  • LOC121587559:Sharpr-MPRA regulatory region 2747 [Gene]
  • LOC121587560:Sharpr-MPRA regulatory region 2952 [Gene]
  • LOC125177354:Sharpr-MPRA regulatory region 3262 [Gene]
  • LOC125177348:Sharpr-MPRA regulatory region 3479 [Gene]
  • LOC121847990:Sharpr-MPRA regulatory region 4373 [Gene]
  • LOC121587557:Sharpr-MPRA regulatory region 5468 [Gene]
  • LOC112486204:Sharpr-MPRA regulatory region 7868 [Gene]
  • LOC121587558:Sharpr-MPRA regulatory region 8646 [Gene]
  • LOC125177351:Sharpr-MPRA regulatory region 8667 [Gene]
  • LOC125177345:Sharpr-MPRA regulatory region 8991 [Gene]
  • LOC112486206:Sharpr-MPRA regulatory region 9376 [Gene]
  • TAT-AS1:TAT antisense RNA 1 [Gene - HGNC]
  • TERF2IP:TERF2 interacting protein [Gene - OMIM - HGNC]
  • TLE7:TLE family member 7 [Gene - HGNC]
  • VAC14-AS1:VAC14 antisense RNA 1 [Gene - HGNC]
  • VAC14:VAC14 component of PIKFYVE complex [Gene - OMIM - HGNC]
  • LOC110120824:VISTA enhancer hs108 [Gene]
  • LOC110121410:VISTA enhancer hs1612 [Gene]
  • LOC110120571:VISTA enhancer hs16 [Gene]
  • LOC110121436:VISTA enhancer hs1724 [Gene]
  • LOC110120572:VISTA enhancer hs20 [Gene]
  • LOC110120573:VISTA enhancer hs22 [Gene]
  • WDR59:WD repeat domain 59 [Gene - OMIM - HGNC]
  • WWP2:WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • ZFHX3-AS1:ZFHX3 antisense RNA 1 [Gene - HGNC]
  • ZFP1:ZFP1 zinc finger protein [Gene - OMIM - HGNC]
  • AP1G1:adaptor related protein complex 1 subunit gamma 1 [Gene - OMIM - HGNC]
  • ADAT1:adenosine deaminase tRNA specific 1 [Gene - OMIM - HGNC]
  • AARS1:alanyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ATXN1L:ataxin 1 like [Gene - OMIM - HGNC]
  • CALB2:calbindin 2 [Gene - OMIM - HGNC]
  • CMTR2:cap methyltransferase 2 [Gene - OMIM - HGNC]
  • CHST4:carbohydrate sulfotransferase 4 [Gene - HGNC]
  • CHST5:carbohydrate sulfotransferase 5 [Gene - OMIM - HGNC]
  • CHST6:carbohydrate sulfotransferase 6 [Gene - OMIM - HGNC]
  • C16orf47:chromosome 16 open reading frame 47 [Gene - HGNC]
  • CTRB1:chymotrypsinogen B1 [Gene - OMIM - HGNC]
  • CTRB2:chymotrypsinogen B2 [Gene - OMIM - HGNC]
  • COG4:component of oligomeric golgi complex 4 [Gene - OMIM - HGNC]
  • CNTNAP4:contactin associated protein family member 4 [Gene - OMIM - HGNC]
  • CFDP1:craniofacial development protein 1 [Gene - OMIM - HGNC]
  • CPHXL2:cytoplasmic polyadenylated homeobox like 2 [Gene - HGNC]
  • CPHXL:cytoplasmic polyadenylated homeobox like [Gene - OMIM - HGNC]
  • DHODH:dihydroorotate dehydrogenase (quinone) [Gene - OMIM - HGNC]
  • DUXB:double homeobox B [Gene - OMIM - HGNC]
  • EXOSC6:exosome component 6 [Gene - OMIM - HGNC]
  • FA2H:fatty acid 2-hydroxylase [Gene - OMIM - HGNC]
  • FCSK:fucose kinase [Gene - OMIM - HGNC]
  • GLG1:golgi glycoprotein 1 [Gene - OMIM - HGNC]
  • HPR:haptoglobin-related protein [Gene - OMIM - HGNC]
  • HP:haptoglobin [Gene - OMIM - HGNC]
  • HCCAT5:hepatocellular carcinoma associated transcript 5 [Gene - OMIM - HGNC]
  • IL34:interleukin 34 [Gene - OMIM - HGNC]
  • LDHD:lactate dehydrogenase D [Gene - OMIM - HGNC]
  • LOHAN2:lncRNA oncogene in head and neck cancer 2 [Gene - HGNC]
  • LINC01572:long intergenic non-protein coding RNA 1572 [Gene - HGNC]
  • LINC02125:long intergenic non-protein coding RNA 2125 [Gene - HGNC]
  • LINC02136:long intergenic non-protein coding RNA 2136 [Gene - HGNC]
  • KARS1:lysyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • MIR140:microRNA 140 [Gene - OMIM - HGNC]
  • MIR1972-2:microRNA 1972-2 [Gene - HGNC]
  • MLKL:mixed lineage kinase domain like pseudokinase [Gene - OMIM - HGNC]
  • NPIPB15:nuclear pore complex interacting protein family member B15 [Gene - HGNC]
  • PMFBP1:polyamine modulated factor 1 binding protein 1 [Gene - OMIM - HGNC]
  • PKD1L3:polycystin 1 like 3, transient receptor potential channel interacting [Gene - OMIM - HGNC]
  • PCHILR:prostate cancer associated HIP1 interacting lncRNA [Gene - HGNC]
  • PSMD7:proteasome 26S subunit, non-ATPase 7 [Gene - OMIM - HGNC]
  • PDPR:pyruvate dehydrogenase phosphatase regulatory subunit [Gene - OMIM - HGNC]
  • RFWD3:ring finger and WD repeat domain 3 [Gene - OMIM - HGNC]
  • SNORD111:small nucleolar RNA, C/D box 111 [Gene - HGNC]
  • SNORD111B:small nucleolar RNA, C/D box 111B [Gene - HGNC]
  • SNORD71:small nucleolar RNA, C/D box 71 [Gene - HGNC]
  • SNORA70D:small nucleolar RNA, H/ACA box 70D [Gene - HGNC]
  • SF3B3:splicing factor 3b subunit 3 [Gene - OMIM - HGNC]
  • TRG-GCC2-4:tRNA-Gly (anticodon GCC) 2-4 [Gene - HGNC]
  • TRG-GCC2-5:tRNA-Gly (anticodon GCC) 2-5 [Gene - HGNC]
  • TRG-GCC3-1:tRNA-Gly (anticodon GCC) 3-1 [Gene - HGNC]
  • TRG-GCC5-1:tRNA-Gly (anticodon GCC) 5-1 [Gene - HGNC]
  • TRK-TTT1-1:tRNA-Lys (anticodon TTT) 1-1 [Gene - HGNC]
  • TRM-CAT2-1:tRNA-Met (anticodon CAT) 2-1 [Gene - HGNC]
  • TXNL4B:thioredoxin like 4B [Gene - OMIM - HGNC]
  • TMEM170A:transmembrane protein 170A [Gene - HGNC]
  • TMEM231:transmembrane protein 231 [Gene - OMIM - HGNC]
  • TAT:tyrosine aminotransferase [Gene - OMIM - HGNC]
  • LOC100506281:uncharacterized LOC100506281 [Gene]
  • LOC105371328:uncharacterized LOC105371328 [Gene]
  • LOC105371335:uncharacterized LOC105371335 [Gene]
  • LOC105371347:uncharacterized LOC105371347 [Gene]
  • LOC105376772:uncharacterized LOC105376772 [Gene]
  • LOC400541:uncharacterized LOC400541 [Gene]
  • ZNRF1:zinc and ring finger 1 [Gene - OMIM - HGNC]
  • ZFHX3:zinc finger homeobox 3 [Gene - OMIM - HGNC]
  • ZNF19:zinc finger protein 19 [Gene - OMIM - HGNC]
  • ZNF23:zinc finger protein 23 [Gene - OMIM - HGNC]
  • ZNF821:zinc finger protein 821 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
16q22.1-23.1
Genomic location:
Preferred name:
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1
HGVS:
  • NC_000016.10:g.(?_69918076)_(76723348_?)del
  • NC_000016.8:g.(?_68509480)_(75314746_?)del
  • NC_000016.9:g.(?_69951979)_(76757245_?)del
Links:
dbVar: nssv577564; dbVar: nsv532037
Observations:
1

Condition(s)

Name:
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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080714GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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, SCV000080714.4

#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