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GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)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:
RCV000051685.4

Allele description [Variation Report for GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3]

GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3

Genes:
  • APOBEC3B-AS1:APOBEC3B antisense RNA 1 [Gene - HGNC]
  • LOC130067396:ATAC-STARR-seq lymphoblastoid active region 18989 [Gene]
  • LOC130067397:ATAC-STARR-seq lymphoblastoid active region 18990 [Gene]
  • LOC130067399:ATAC-STARR-seq lymphoblastoid active region 18993 [Gene]
  • LOC130067400:ATAC-STARR-seq lymphoblastoid active region 18995 [Gene]
  • LOC130067401:ATAC-STARR-seq lymphoblastoid active region 18996 [Gene]
  • LOC130067402:ATAC-STARR-seq lymphoblastoid active region 18999 [Gene]
  • LOC130067410:ATAC-STARR-seq lymphoblastoid active region 19000 [Gene]
  • LOC130067411:ATAC-STARR-seq lymphoblastoid active region 19001 [Gene]
  • LOC130067412:ATAC-STARR-seq lymphoblastoid active region 19002 [Gene]
  • LOC130067414:ATAC-STARR-seq lymphoblastoid active region 19003 [Gene]
  • LOC130067415:ATAC-STARR-seq lymphoblastoid active region 19004 [Gene]
  • LOC130067416:ATAC-STARR-seq lymphoblastoid active region 19006 [Gene]
  • LOC130067417:ATAC-STARR-seq lymphoblastoid active region 19007 [Gene]
  • LOC130067418:ATAC-STARR-seq lymphoblastoid active region 19008 [Gene]
  • LOC130067419:ATAC-STARR-seq lymphoblastoid active region 19009 [Gene]
  • LOC130067421:ATAC-STARR-seq lymphoblastoid active region 19010 [Gene]
  • LOC130067428:ATAC-STARR-seq lymphoblastoid active region 19014 [Gene]
  • LOC130067430:ATAC-STARR-seq lymphoblastoid active region 19017 [Gene]
  • LOC130067431:ATAC-STARR-seq lymphoblastoid active region 19018 [Gene]
  • LOC130067432:ATAC-STARR-seq lymphoblastoid active region 19019 [Gene]
  • LOC130067435:ATAC-STARR-seq lymphoblastoid active region 19020 [Gene]
  • LOC130067436:ATAC-STARR-seq lymphoblastoid active region 19022 [Gene]
  • LOC130067443:ATAC-STARR-seq lymphoblastoid active region 19027 [Gene]
  • LOC130067447:ATAC-STARR-seq lymphoblastoid active region 19028 [Gene]
  • LOC130067448:ATAC-STARR-seq lymphoblastoid active region 19029 [Gene]
  • LOC130067449:ATAC-STARR-seq lymphoblastoid active region 19031 [Gene]
  • LOC130067450:ATAC-STARR-seq lymphoblastoid active region 19032 [Gene]
  • LOC130067453:ATAC-STARR-seq lymphoblastoid active region 19036 [Gene]
  • LOC130067456:ATAC-STARR-seq lymphoblastoid active region 19038 [Gene]
  • LOC130067457:ATAC-STARR-seq lymphoblastoid active region 19039 [Gene]
  • LOC130067459:ATAC-STARR-seq lymphoblastoid active region 19040 [Gene]
  • LOC130067461:ATAC-STARR-seq lymphoblastoid active region 19045 [Gene]
  • LOC130067462:ATAC-STARR-seq lymphoblastoid active region 19046 [Gene]
  • LOC130067464:ATAC-STARR-seq lymphoblastoid active region 19047 [Gene]
  • LOC130067465:ATAC-STARR-seq lymphoblastoid active region 19048 [Gene]
  • LOC130067466:ATAC-STARR-seq lymphoblastoid active region 19050 [Gene]
  • LOC130067470:ATAC-STARR-seq lymphoblastoid active region 19051 [Gene]
  • LOC130067471:ATAC-STARR-seq lymphoblastoid active region 19052 [Gene]
  • LOC130067472:ATAC-STARR-seq lymphoblastoid active region 19053 [Gene]
  • LOC130067473:ATAC-STARR-seq lymphoblastoid active region 19054 [Gene]
  • LOC130067474:ATAC-STARR-seq lymphoblastoid active region 19055 [Gene]
  • LOC130067478:ATAC-STARR-seq lymphoblastoid active region 19058 [Gene]
  • LOC130067479:ATAC-STARR-seq lymphoblastoid active region 19059 [Gene]
  • LOC130067480:ATAC-STARR-seq lymphoblastoid active region 19060 [Gene]
  • LOC130067481:ATAC-STARR-seq lymphoblastoid active region 19061 [Gene]
  • LOC130067482:ATAC-STARR-seq lymphoblastoid active region 19062 [Gene]
  • LOC130067483:ATAC-STARR-seq lymphoblastoid active region 19063 [Gene]
  • LOC130067484:ATAC-STARR-seq lymphoblastoid active region 19064 [Gene]
  • LOC130067485:ATAC-STARR-seq lymphoblastoid active region 19065 [Gene]
  • LOC130067486:ATAC-STARR-seq lymphoblastoid active region 19066 [Gene]
  • LOC130067487:ATAC-STARR-seq lymphoblastoid active region 19067 [Gene]
  • LOC130067488:ATAC-STARR-seq lymphoblastoid active region 19068 [Gene]
  • LOC130067489:ATAC-STARR-seq lymphoblastoid active region 19071 [Gene]
  • LOC130067490:ATAC-STARR-seq lymphoblastoid active region 19072 [Gene]
  • LOC130067492:ATAC-STARR-seq lymphoblastoid active region 19073 [Gene]
  • LOC130067493:ATAC-STARR-seq lymphoblastoid active region 19074 [Gene]
  • LOC130067494:ATAC-STARR-seq lymphoblastoid active region 19075 [Gene]
  • LOC130067495:ATAC-STARR-seq lymphoblastoid active region 19076 [Gene]
  • LOC130067496:ATAC-STARR-seq lymphoblastoid active region 19077 [Gene]
  • LOC130067498:ATAC-STARR-seq lymphoblastoid active region 19078 [Gene]
  • LOC130067499:ATAC-STARR-seq lymphoblastoid active region 19079 [Gene]
  • LOC130067500:ATAC-STARR-seq lymphoblastoid active region 19080 [Gene]
  • LOC130067501:ATAC-STARR-seq lymphoblastoid active region 19081 [Gene]
  • LOC130067504:ATAC-STARR-seq lymphoblastoid active region 19082 [Gene]
  • LOC130067505:ATAC-STARR-seq lymphoblastoid active region 19083 [Gene]
  • LOC130067506:ATAC-STARR-seq lymphoblastoid active region 19084 [Gene]
  • LOC130067509:ATAC-STARR-seq lymphoblastoid active region 19085 [Gene]
  • LOC130067510:ATAC-STARR-seq lymphoblastoid active region 19086 [Gene]
  • LOC130067512:ATAC-STARR-seq lymphoblastoid active region 19087 [Gene]
  • LOC130067513:ATAC-STARR-seq lymphoblastoid active region 19088 [Gene]
  • LOC130067514:ATAC-STARR-seq lymphoblastoid active region 19089 [Gene]
  • LOC130067515:ATAC-STARR-seq lymphoblastoid active region 19090 [Gene]
  • LOC130067516:ATAC-STARR-seq lymphoblastoid active region 19091 [Gene]
  • LOC130067517:ATAC-STARR-seq lymphoblastoid active region 19092 [Gene]
  • LOC130067518:ATAC-STARR-seq lymphoblastoid active region 19093 [Gene]
  • LOC130067519:ATAC-STARR-seq lymphoblastoid active region 19095 [Gene]
  • LOC130067521:ATAC-STARR-seq lymphoblastoid active region 19096 [Gene]
  • LOC130067523:ATAC-STARR-seq lymphoblastoid active region 19100 [Gene]
  • LOC130067388:ATAC-STARR-seq lymphoblastoid silent region 13695 [Gene]
  • LOC130067389:ATAC-STARR-seq lymphoblastoid silent region 13696 [Gene]
  • LOC130067390:ATAC-STARR-seq lymphoblastoid silent region 13697 [Gene]
  • LOC130067391:ATAC-STARR-seq lymphoblastoid silent region 13699 [Gene]
  • LOC130067392:ATAC-STARR-seq lymphoblastoid silent region 13700 [Gene]
  • LOC130067393:ATAC-STARR-seq lymphoblastoid silent region 13701 [Gene]
  • LOC130067394:ATAC-STARR-seq lymphoblastoid silent region 13702 [Gene]
  • LOC130067395:ATAC-STARR-seq lymphoblastoid silent region 13705 [Gene]
  • LOC130067398:ATAC-STARR-seq lymphoblastoid silent region 13706 [Gene]
  • LOC130067403:ATAC-STARR-seq lymphoblastoid silent region 13707 [Gene]
  • LOC130067404:ATAC-STARR-seq lymphoblastoid silent region 13708 [Gene]
  • LOC130067405:ATAC-STARR-seq lymphoblastoid silent region 13709 [Gene]
  • LOC130067406:ATAC-STARR-seq lymphoblastoid silent region 13710 [Gene]
  • LOC130067407:ATAC-STARR-seq lymphoblastoid silent region 13711 [Gene]
  • LOC130067408:ATAC-STARR-seq lymphoblastoid silent region 13712 [Gene]
  • LOC130067409:ATAC-STARR-seq lymphoblastoid silent region 13713 [Gene]
  • LOC130067413:ATAC-STARR-seq lymphoblastoid silent region 13714 [Gene]
  • LOC130067420:ATAC-STARR-seq lymphoblastoid silent region 13715 [Gene]
  • LOC130067422:ATAC-STARR-seq lymphoblastoid silent region 13716 [Gene]
  • LOC130067423:ATAC-STARR-seq lymphoblastoid silent region 13717 [Gene]
  • LOC130067424:ATAC-STARR-seq lymphoblastoid silent region 13718 [Gene]
  • LOC130067425:ATAC-STARR-seq lymphoblastoid silent region 13719 [Gene]
  • LOC130067426:ATAC-STARR-seq lymphoblastoid silent region 13720 [Gene]
  • LOC130067427:ATAC-STARR-seq lymphoblastoid silent region 13723 [Gene]
  • LOC130067429:ATAC-STARR-seq lymphoblastoid silent region 13726 [Gene]
  • LOC130067433:ATAC-STARR-seq lymphoblastoid silent region 13730 [Gene]
  • LOC130067434:ATAC-STARR-seq lymphoblastoid silent region 13731 [Gene]
  • LOC130067437:ATAC-STARR-seq lymphoblastoid silent region 13732 [Gene]
  • LOC130067438:ATAC-STARR-seq lymphoblastoid silent region 13733 [Gene]
  • LOC130067439:ATAC-STARR-seq lymphoblastoid silent region 13734 [Gene]
  • LOC130067440:ATAC-STARR-seq lymphoblastoid silent region 13735 [Gene]
  • LOC130067441:ATAC-STARR-seq lymphoblastoid silent region 13736 [Gene]
  • LOC130067442:ATAC-STARR-seq lymphoblastoid silent region 13737 [Gene]
  • LOC130067444:ATAC-STARR-seq lymphoblastoid silent region 13739 [Gene]
  • LOC130067445:ATAC-STARR-seq lymphoblastoid silent region 13740 [Gene]
  • LOC130067446:ATAC-STARR-seq lymphoblastoid silent region 13741 [Gene]
  • LOC130067451:ATAC-STARR-seq lymphoblastoid silent region 13742 [Gene]
  • LOC130067452:ATAC-STARR-seq lymphoblastoid silent region 13744 [Gene]
  • LOC130067454:ATAC-STARR-seq lymphoblastoid silent region 13747 [Gene]
  • LOC130067455:ATAC-STARR-seq lymphoblastoid silent region 13748 [Gene]
  • LOC130067458:ATAC-STARR-seq lymphoblastoid silent region 13749 [Gene]
  • LOC130067460:ATAC-STARR-seq lymphoblastoid silent region 13750 [Gene]
  • LOC130067463:ATAC-STARR-seq lymphoblastoid silent region 13751 [Gene]
  • LOC130067467:ATAC-STARR-seq lymphoblastoid silent region 13752 [Gene]
  • LOC130067468:ATAC-STARR-seq lymphoblastoid silent region 13753 [Gene]
  • LOC130067469:ATAC-STARR-seq lymphoblastoid silent region 13754 [Gene]
  • LOC130067475:ATAC-STARR-seq lymphoblastoid silent region 13755 [Gene]
  • LOC130067476:ATAC-STARR-seq lymphoblastoid silent region 13756 [Gene]
  • LOC130067477:ATAC-STARR-seq lymphoblastoid silent region 13758 [Gene]
  • LOC130067491:ATAC-STARR-seq lymphoblastoid silent region 13763 [Gene]
  • LOC130067497:ATAC-STARR-seq lymphoblastoid silent region 13764 [Gene]
  • LOC130067502:ATAC-STARR-seq lymphoblastoid silent region 13766 [Gene]
  • LOC130067503:ATAC-STARR-seq lymphoblastoid silent region 13767 [Gene]
  • LOC130067507:ATAC-STARR-seq lymphoblastoid silent region 13769 [Gene]
  • LOC130067508:ATAC-STARR-seq lymphoblastoid silent region 13770 [Gene]
  • LOC130067511:ATAC-STARR-seq lymphoblastoid silent region 13771 [Gene]
  • LOC130067520:ATAC-STARR-seq lymphoblastoid silent region 13772 [Gene]
  • LOC130067522:ATAC-STARR-seq lymphoblastoid silent region 13774 [Gene]
  • BAIAP2L2:BAR/IMD domain containing adaptor protein 2 like 2 [Gene - OMIM - HGNC]
  • LOC126863146:BRD4-independent group 4 enhancer GRCh37_chr22:38427029-38428228 [Gene]
  • LOC126863149:BRD4-independent group 4 enhancer GRCh37_chr22:39077750-39078949 [Gene]
  • LOC126863150:BRD4-independent group 4 enhancer GRCh37_chr22:39269364-39270563 [Gene]
  • LOC126863153:BRD4-independent group 4 enhancer GRCh37_chr22:39492371-39493570 [Gene]
  • LOC126863155:BRD4-independent group 4 enhancer GRCh37_chr22:39704579-39705778 [Gene]
  • LOC126863144:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38147547-38148746 [Gene]
  • LOC126863145:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 [Gene]
  • LOC126863148:CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38694325-38695524 [Gene]
  • LOC116309134:CRISPRi-validated cis-regulatory element chr22.1870 [Gene]
  • LOC116309135:CRISPRi-validated cis-regulatory element chr22.1887 [Gene]
  • LOC116309136:CRISPRi-validated cis-regulatory element chr22.2018 [Gene]
  • LOC116309137:CRISPRi-validated cis-regulatory element chr22.2152 [Gene]
  • DDX17:DEAD-box helicase 17 [Gene - OMIM - HGNC]
  • DMC1:DNA meiotic recombinase 1 [Gene - OMIM - HGNC]
  • DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
  • ENTHD1:ENTH domain containing 1 [Gene - HGNC]
  • GRAP2:GRB2 related adaptor protein 2 [Gene - OMIM - HGNC]
  • GTPBP1:GTP binding protein 1 [Gene - OMIM - HGNC]
  • H1-0:H1.0 linker histone [Gene - OMIM - HGNC]
  • JOSD1:Josephin domain containing 1 [Gene - OMIM - HGNC]
  • KDELR3:KDEL endoplasmic reticulum protein retention receptor 3 [Gene - OMIM - HGNC]
  • MAFF:MAF bZIP transcription factor F [Gene - OMIM - HGNC]
  • LOC126863154:MED14-independent group 3 enhancer GRCh37_chr22:39610322-39611521 [Gene]
  • MGAT3-AS1:MGAT3 antisense RNA 1 [Gene - HGNC]
  • MICALL1:MICAL like 1 [Gene - OMIM - HGNC]
  • LOC129391280:MPRA-validated peak4487 silencer [Gene]
  • LOC129391281:MPRA-validated peak4491 silencer [Gene]
  • LOC129391282:MPRA-validated peak4492 silencer [Gene]
  • LOC129391283:MPRA-validated peak4493 silencer [Gene]
  • LOC129391284:MPRA-validated peak4496 silencer [Gene]
  • MRTFA-AS1:MRTFA antisense RNA 1 [Gene - HGNC]
  • LOC132090650:Neanderthal introgressed variant-containing enhancer experimental_63270 [Gene]
  • LOC132090651:Neanderthal introgressed variant-containing enhancer experimental_63315 [Gene]
  • LOC132090922:Neanderthal introgressed variant-containing enhancer experimental_63367 [Gene]
  • LOC132211115:Neanderthal introgressed variant-containing enhancers experimental_63385 and experimental_63387 [Gene]
  • LOC126863147:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:38614213-38615412 [Gene]
  • LOC126863151:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:39380734-39381933 [Gene]
  • LOC126863152:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:39445317-39446516 [Gene]
  • LOC126863156:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41033797-41034996 [Gene]
  • LOC126863157:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:41047623-41048822 [Gene]
  • POLR2F:RNA polymerase II, I and III subunit F [Gene - OMIM - HGNC]
  • SOX10:SRY-box transcription factor 10 [Gene - OMIM - HGNC]
  • ST13:ST13 Hsp70 interacting protein [Gene - OMIM - HGNC]
  • SUN2:Sad1 and UNC84 domain containing 2 [Gene - OMIM - HGNC]
  • LOC121853043:Sharpr-MPRA regulatory region 10540 [Gene]
  • LOC125446237:Sharpr-MPRA regulatory region 11047 [Gene]
  • LOC125446238:Sharpr-MPRA regulatory region 12345 [Gene]
  • LOC121627944:Sharpr-MPRA regulatory region 12417 [Gene]
  • LOC112695096:Sharpr-MPRA regulatory region 1401 [Gene]
  • LOC125446236:Sharpr-MPRA regulatory region 14739 [Gene]
  • LOC125446235:Sharpr-MPRA regulatory region 1576 [Gene]
  • LOC121627943:Sharpr-MPRA regulatory region 2181 [Gene]
  • LOC125446234:Sharpr-MPRA regulatory region 3662 [Gene]
  • LOC112695093:Sharpr-MPRA regulatory region 533 [Gene]
  • LOC125446232:Sharpr-MPRA regulatory region 5684 [Gene]
  • LOC112695092:Sharpr-MPRA regulatory region 6169 [Gene]
  • LOC112695094:Sharpr-MPRA regulatory region 6675 [Gene]
  • LOC112695090:Sharpr-MPRA regulatory region 8034 [Gene]
  • LOC121627941:Sharpr-MPRA regulatory region 8537 [Gene]
  • LOC125446233:Sharpr-MPRA regulatory region 8587 [Gene]
  • LOC121627942:Sharpr-MPRA regulatory region 8665 [Gene]
  • LOC112695095:Sharpr-MPRA regulatory region 8945 [Gene]
  • LOC125446239:Sharpr-MPRA regulatory regions 5578 and 9058 [Gene]
  • TAB1:TGF-beta activated kinase 1 (MAP3K7) binding protein 1 [Gene - OMIM - HGNC]
  • TMEM184B-AS1:TMEM184B antisense RNA 1 [Gene - HGNC]
  • TNRC6B-DT:TNRC6B divergent transcript [Gene - HGNC]
  • TPTEP2-CSNK1E:TPTEP2-CSNK1E readthrough [Gene - HGNC]
  • TRIOBP:TRIO and F-actin binding protein [Gene - OMIM - HGNC]
  • LOC110120880:VISTA enhancer hs486 [Gene]
  • LOC110120882:VISTA enhancer hs491 [Gene]
  • LOC110120883:VISTA enhancer hs492 [Gene]
  • LOC110120893:VISTA enhancer hs564 [Gene]
  • XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
  • ATF4:activating transcription factor 4 [Gene - OMIM - HGNC]
  • ADSL:adenylosuccinate lyase [Gene - OMIM - HGNC]
  • ANKRD54:ankyrin repeat domain 54 [Gene - OMIM - HGNC]
  • APOBEC3A:apolipoprotein B mRNA editing enzyme catalytic subunit 3A [Gene - OMIM - HGNC]
  • APOBEC3B:apolipoprotein B mRNA editing enzyme catalytic subunit 3B [Gene - OMIM - HGNC]
  • APOBEC3C:apolipoprotein B mRNA editing enzyme catalytic subunit 3C [Gene - OMIM - HGNC]
  • APOBEC3D:apolipoprotein B mRNA editing enzyme catalytic subunit 3D [Gene - OMIM - HGNC]
  • APOBEC3F:apolipoprotein B mRNA editing enzyme catalytic subunit 3F [Gene - OMIM - HGNC]
  • APOBEC3G:apolipoprotein B mRNA editing enzyme catalytic subunit 3G [Gene - OMIM - HGNC]
  • APOBEC3H:apolipoprotein B mRNA editing enzyme catalytic subunit 3H [Gene - OMIM - HGNC]
  • MGAT3:beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • CACNA1I:calcium voltage-gated channel subunit alpha1 I [Gene - OMIM - HGNC]
  • CSNK1E:casein kinase 1 epsilon [Gene - OMIM - HGNC]
  • CBY1:chibby 1, beta catenin antagonist [Gene - OMIM - HGNC]
  • CBX6:chromobox 6 [Gene - OMIM - HGNC]
  • CBX7:chromobox 7 [Gene - OMIM - HGNC]
  • C22orf23:chromosome 22 open reading frame 23 [Gene - OMIM - HGNC]
  • DNAL4:dynein axonemal light chain 4 [Gene - OMIM - HGNC]
  • EIF3L:eukaryotic translation initiation factor 3 subunit L [Gene - OMIM - HGNC]
  • FAM227A:family with sequence similarity 227 member A [Gene - HGNC]
  • FAM83F:family with sequence similarity 83 member F [Gene - HGNC]
  • GALR3:galanin receptor 3 [Gene - OMIM - HGNC]
  • GCAT:glycine C-acetyltransferase [Gene - OMIM - HGNC]
  • MCHR1:melanin concentrating hormone receptor 1 [Gene - OMIM - HGNC]
  • LOC128772428:melanoma risk locus-associated MPRA allelic enhancer 22:38561911 [Gene]
  • LOC128772429:melanoma risk locus-associated MPRA allelic enhancer 22:38570189 [Gene]
  • LOC128706667:melanoma risk locus-associated MPRA allelic enhancer 22:38572440 [Gene]
  • LOC128772430:melanoma risk locus-associated MPRA allelic enhancer 22:38580917 [Gene]
  • LOC128772431:melanoma risk locus-associated MPRA allelic enhancer 22:38600595 [Gene]
  • LOC128772432:melanoma risk locus-associated MPRA allelic enhancer 22:38603571 [Gene]
  • LOC128772433:melanoma risk locus-associated MPRA allelic enhancer 22:38607237 [Gene]
  • LOC128772434:melanoma risk locus-associated MPRA allelic enhancer 22:38607534 [Gene]
  • LOC128772435:melanoma risk locus-associated MPRA allelic enhancer 22:38608227 [Gene]
  • MIR4534:microRNA 4534 [Gene - HGNC]
  • MIR4766:microRNA 4766 [Gene - HGNC]
  • MIR658:microRNA 658 [Gene - HGNC]
  • MIR659:microRNA 659 [Gene - OMIM - HGNC]
  • MIR6820:microRNA 6820 [Gene - HGNC]
  • MIURF:mitochondrial elongation factor 1 upstream open reading frame [Gene]
  • MIEF1:mitochondrial elongation factor 1 [Gene - OMIM - HGNC]
  • MRTFA:myocardin related transcription factor A [Gene - OMIM - HGNC]
  • NPTXR:neuronal pentraxin receptor [Gene - OMIM - HGNC]
  • PLA2G6:phospholipase A2 group VI [Gene - OMIM - HGNC]
  • PDGFB:platelet derived growth factor subunit B [Gene - OMIM - HGNC]
  • KCNJ4:potassium inwardly rectifying channel subfamily J member 4 [Gene - OMIM - HGNC]
  • PICK1:protein interacting with PRKCA 1 [Gene - OMIM - HGNC]
  • RPL3:ribosomal protein L3 [Gene - OMIM - HGNC]
  • RPS19BP1:ribosomal protein S19 binding protein 1 [Gene - OMIM - HGNC]
  • SGSM3:small G protein signaling modulator 3 [Gene - OMIM - HGNC]
  • SNORD139:small nucleolar RNA, C/D box 139 [Gene - OMIM - HGNC]
  • SNORD43:small nucleolar RNA, C/D box 43 [Gene - OMIM - HGNC]
  • SNORD83A:small nucleolar RNA, C/D box 83A [Gene - OMIM - HGNC]
  • SNORD83B:small nucleolar RNA, C/D box 83B [Gene - OMIM - HGNC]
  • SNORA92:small nucleolar RNA, H/ACA box 92 [Gene - HGNC]
  • SLC16A8:solute carrier family 16 member 8 [Gene - OMIM - HGNC]
  • SLC25A17:solute carrier family 25 member 17 [Gene - OMIM - HGNC]
  • SYNGR1:synaptogyrin 1 [Gene - OMIM - HGNC]
  • TMA7B:translation machinery associated 7 homolog B [Gene - HGNC]
  • TOMM22:translocase of outer mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • TMEM184B:transmembrane protein 184B [Gene - HGNC]
  • TNRC6B:trinucleotide repeat containing adaptor 6B [Gene - OMIM - HGNC]
  • LOC100506472:uncharacterized LOC100506472 [Gene]
  • LOC102724378:uncharacterized LOC102724378 [Gene]
  • LOC105373031:uncharacterized LOC105373031 [Gene]
Variant type:
copy number gain
Cytogenetic location:
22q13.1-13.2
Genomic location:
Preferred name:
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3
HGVS:
  • NC_000022.11:g.(?_37721797)_(40860953_?)dup
  • NC_000022.10:g.(?_38117804)_(41256957_?)dup
  • NC_000022.9:g.(?_36447750)_(39586903_?)dup
Links:
dbVar: nssv578929; dbVar: nsv530205
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079033GeneDx
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, SCV000079033.4

#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