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GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 20, 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:
RCV000137787.6

Allele description [Variation Report for GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1]

GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1

Genes:
  • LOC130002594:ATAC-STARR-seq lymphoblastoid active region 29000 [Gene]
  • LOC130002595:ATAC-STARR-seq lymphoblastoid active region 29002 [Gene]
  • LOC130002596:ATAC-STARR-seq lymphoblastoid active region 29004 [Gene]
  • LOC130002597:ATAC-STARR-seq lymphoblastoid active region 29005 [Gene]
  • LOC130002598:ATAC-STARR-seq lymphoblastoid active region 29006 [Gene]
  • LOC130002599:ATAC-STARR-seq lymphoblastoid active region 29007 [Gene]
  • LOC130002600:ATAC-STARR-seq lymphoblastoid active region 29008 [Gene]
  • LOC130002601:ATAC-STARR-seq lymphoblastoid active region 29009 [Gene]
  • LOC130002602:ATAC-STARR-seq lymphoblastoid active region 29012 [Gene]
  • LOC130002603:ATAC-STARR-seq lymphoblastoid active region 29013 [Gene]
  • LOC130002605:ATAC-STARR-seq lymphoblastoid active region 29014 [Gene]
  • LOC130002610:ATAC-STARR-seq lymphoblastoid active region 29015 [Gene]
  • LOC130002616:ATAC-STARR-seq lymphoblastoid active region 29016 [Gene]
  • LOC130002618:ATAC-STARR-seq lymphoblastoid active region 29018 [Gene]
  • LOC130002622:ATAC-STARR-seq lymphoblastoid active region 29019 [Gene]
  • LOC130002623:ATAC-STARR-seq lymphoblastoid active region 29020 [Gene]
  • LOC130002624:ATAC-STARR-seq lymphoblastoid active region 29021 [Gene]
  • LOC130002625:ATAC-STARR-seq lymphoblastoid active region 29022 [Gene]
  • LOC130002626:ATAC-STARR-seq lymphoblastoid active region 29023 [Gene]
  • LOC130002630:ATAC-STARR-seq lymphoblastoid active region 29024 [Gene]
  • LOC130002631:ATAC-STARR-seq lymphoblastoid active region 29025 [Gene]
  • LOC130002632:ATAC-STARR-seq lymphoblastoid active region 29026 [Gene]
  • LOC130002633:ATAC-STARR-seq lymphoblastoid active region 29027 [Gene]
  • LOC130002634:ATAC-STARR-seq lymphoblastoid active region 29028 [Gene]
  • LOC130002635:ATAC-STARR-seq lymphoblastoid active region 29029 [Gene]
  • LOC130002636:ATAC-STARR-seq lymphoblastoid active region 29030 [Gene]
  • LOC130002637:ATAC-STARR-seq lymphoblastoid active region 29031 [Gene]
  • LOC130002638:ATAC-STARR-seq lymphoblastoid active region 29032 [Gene]
  • LOC130002639:ATAC-STARR-seq lymphoblastoid active region 29034 [Gene]
  • LOC130002640:ATAC-STARR-seq lymphoblastoid active region 29035 [Gene]
  • LOC130002643:ATAC-STARR-seq lymphoblastoid active region 29037 [Gene]
  • LOC130002647:ATAC-STARR-seq lymphoblastoid active region 29040 [Gene]
  • LOC130002648:ATAC-STARR-seq lymphoblastoid active region 29041 [Gene]
  • LOC130002649:ATAC-STARR-seq lymphoblastoid active region 29042 [Gene]
  • LOC130002652:ATAC-STARR-seq lymphoblastoid active region 29044 [Gene]
  • LOC130002653:ATAC-STARR-seq lymphoblastoid active region 29045 [Gene]
  • LOC130002654:ATAC-STARR-seq lymphoblastoid active region 29046 [Gene]
  • LOC130002655:ATAC-STARR-seq lymphoblastoid active region 29047 [Gene]
  • LOC130002658:ATAC-STARR-seq lymphoblastoid active region 29049 [Gene]
  • LOC130002659:ATAC-STARR-seq lymphoblastoid active region 29050 [Gene]
  • LOC130002660:ATAC-STARR-seq lymphoblastoid active region 29052 [Gene]
  • LOC130002662:ATAC-STARR-seq lymphoblastoid active region 29053 [Gene]
  • LOC130002664:ATAC-STARR-seq lymphoblastoid active region 29056 [Gene]
  • LOC130002668:ATAC-STARR-seq lymphoblastoid active region 29057 [Gene]
  • LOC130002669:ATAC-STARR-seq lymphoblastoid active region 29058 [Gene]
  • LOC130002670:ATAC-STARR-seq lymphoblastoid active region 29059 [Gene]
  • LOC130002671:ATAC-STARR-seq lymphoblastoid active region 29060 [Gene]
  • LOC130002672:ATAC-STARR-seq lymphoblastoid active region 29061 [Gene]
  • LOC130002675:ATAC-STARR-seq lymphoblastoid active region 29062 [Gene]
  • LOC130002676:ATAC-STARR-seq lymphoblastoid active region 29063 [Gene]
  • LOC130002678:ATAC-STARR-seq lymphoblastoid active region 29064 [Gene]
  • LOC130002679:ATAC-STARR-seq lymphoblastoid active region 29065 [Gene]
  • LOC130002680:ATAC-STARR-seq lymphoblastoid active region 29066 [Gene]
  • LOC130002681:ATAC-STARR-seq lymphoblastoid active region 29067 [Gene]
  • LOC130002684:ATAC-STARR-seq lymphoblastoid active region 29068 [Gene]
  • LOC130002685:ATAC-STARR-seq lymphoblastoid active region 29069 [Gene]
  • LOC130002687:ATAC-STARR-seq lymphoblastoid active region 29070 [Gene]
  • LOC130002688:ATAC-STARR-seq lymphoblastoid active region 29071 [Gene]
  • LOC130002689:ATAC-STARR-seq lymphoblastoid active region 29072 [Gene]
  • LOC130002691:ATAC-STARR-seq lymphoblastoid active region 29073 [Gene]
  • LOC130002695:ATAC-STARR-seq lymphoblastoid active region 29074 [Gene]
  • LOC130002697:ATAC-STARR-seq lymphoblastoid active region 29075 [Gene]
  • LOC130002700:ATAC-STARR-seq lymphoblastoid active region 29076 [Gene]
  • LOC130002702:ATAC-STARR-seq lymphoblastoid active region 29077 [Gene]
  • LOC130002703:ATAC-STARR-seq lymphoblastoid active region 29078 [Gene]
  • LOC130002706:ATAC-STARR-seq lymphoblastoid active region 29079 [Gene]
  • LOC130002707:ATAC-STARR-seq lymphoblastoid active region 29080 [Gene]
  • LOC130002709:ATAC-STARR-seq lymphoblastoid active region 29081 [Gene]
  • LOC130002711:ATAC-STARR-seq lymphoblastoid active region 29084 [Gene]
  • LOC130002713:ATAC-STARR-seq lymphoblastoid active region 29085 [Gene]
  • LOC130002592:ATAC-STARR-seq lymphoblastoid silent region 20274 [Gene]
  • LOC130002593:ATAC-STARR-seq lymphoblastoid silent region 20275 [Gene]
  • LOC130002604:ATAC-STARR-seq lymphoblastoid silent region 20278 [Gene]
  • LOC130002606:ATAC-STARR-seq lymphoblastoid silent region 20280 [Gene]
  • LOC130002607:ATAC-STARR-seq lymphoblastoid silent region 20281 [Gene]
  • LOC130002608:ATAC-STARR-seq lymphoblastoid silent region 20282 [Gene]
  • LOC130002609:ATAC-STARR-seq lymphoblastoid silent region 20283 [Gene]
  • LOC130002611:ATAC-STARR-seq lymphoblastoid silent region 20284 [Gene]
  • LOC130002612:ATAC-STARR-seq lymphoblastoid silent region 20285 [Gene]
  • LOC130002613:ATAC-STARR-seq lymphoblastoid silent region 20286 [Gene]
  • LOC130002614:ATAC-STARR-seq lymphoblastoid silent region 20287 [Gene]
  • LOC130002615:ATAC-STARR-seq lymphoblastoid silent region 20288 [Gene]
  • LOC130002617:ATAC-STARR-seq lymphoblastoid silent region 20289 [Gene]
  • LOC130002619:ATAC-STARR-seq lymphoblastoid silent region 20290 [Gene]
  • LOC130002620:ATAC-STARR-seq lymphoblastoid silent region 20291 [Gene]
  • LOC130002621:ATAC-STARR-seq lymphoblastoid silent region 20292 [Gene]
  • LOC130002627:ATAC-STARR-seq lymphoblastoid silent region 20293 [Gene]
  • LOC130002628:ATAC-STARR-seq lymphoblastoid silent region 20294 [Gene]
  • LOC130002629:ATAC-STARR-seq lymphoblastoid silent region 20297 [Gene]
  • LOC130002641:ATAC-STARR-seq lymphoblastoid silent region 20299 [Gene]
  • LOC130002642:ATAC-STARR-seq lymphoblastoid silent region 20300 [Gene]
  • LOC130002644:ATAC-STARR-seq lymphoblastoid silent region 20301 [Gene]
  • LOC130002645:ATAC-STARR-seq lymphoblastoid silent region 20302 [Gene]
  • LOC130002646:ATAC-STARR-seq lymphoblastoid silent region 20303 [Gene]
  • LOC130002650:ATAC-STARR-seq lymphoblastoid silent region 20304 [Gene]
  • LOC130002651:ATAC-STARR-seq lymphoblastoid silent region 20307 [Gene]
  • LOC130002656:ATAC-STARR-seq lymphoblastoid silent region 20308 [Gene]
  • LOC130002657:ATAC-STARR-seq lymphoblastoid silent region 20309 [Gene]
  • LOC130002661:ATAC-STARR-seq lymphoblastoid silent region 20310 [Gene]
  • LOC130002663:ATAC-STARR-seq lymphoblastoid silent region 20313 [Gene]
  • LOC130002665:ATAC-STARR-seq lymphoblastoid silent region 20314 [Gene]
  • LOC130002666:ATAC-STARR-seq lymphoblastoid silent region 20315 [Gene]
  • LOC130002667:ATAC-STARR-seq lymphoblastoid silent region 20316 [Gene]
  • LOC130002673:ATAC-STARR-seq lymphoblastoid silent region 20317 [Gene]
  • LOC130002674:ATAC-STARR-seq lymphoblastoid silent region 20318 [Gene]
  • LOC130002677:ATAC-STARR-seq lymphoblastoid silent region 20319 [Gene]
  • LOC130002682:ATAC-STARR-seq lymphoblastoid silent region 20320 [Gene]
  • LOC130002683:ATAC-STARR-seq lymphoblastoid silent region 20321 [Gene]
  • LOC130002686:ATAC-STARR-seq lymphoblastoid silent region 20323 [Gene]
  • LOC130002690:ATAC-STARR-seq lymphoblastoid silent region 20324 [Gene]
  • LOC130002692:ATAC-STARR-seq lymphoblastoid silent region 20325 [Gene]
  • LOC130002693:ATAC-STARR-seq lymphoblastoid silent region 20326 [Gene]
  • LOC130002694:ATAC-STARR-seq lymphoblastoid silent region 20327 [Gene]
  • LOC130002696:ATAC-STARR-seq lymphoblastoid silent region 20331 [Gene]
  • LOC130002698:ATAC-STARR-seq lymphoblastoid silent region 20332 [Gene]
  • LOC130002699:ATAC-STARR-seq lymphoblastoid silent region 20333 [Gene]
  • LOC130002701:ATAC-STARR-seq lymphoblastoid silent region 20334 [Gene]
  • LOC130002704:ATAC-STARR-seq lymphoblastoid silent region 20335 [Gene]
  • LOC130002705:ATAC-STARR-seq lymphoblastoid silent region 20337 [Gene]
  • LOC130002708:ATAC-STARR-seq lymphoblastoid silent region 20339 [Gene]
  • LOC130002710:ATAC-STARR-seq lymphoblastoid silent region 20344 [Gene]
  • LOC130002712:ATAC-STARR-seq lymphoblastoid silent region 20345 [Gene]
  • LOC126860768:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:129928436-129929635 [Gene]
  • LOC126860771:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:130685680-130686879 [Gene]
  • LOC126860772:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:131396972-131398171 [Gene]
  • CIZ1:CDKN1A interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • LOC116216099:CRISPRi-validated cis-regulatory element chr9.2869 [Gene]
  • LOC116216100:CRISPRi-validated cis-regulatory element chr9.2942 [Gene]
  • LOC108281127:FAM129B intron CAGE-defined low expression enhancer [Gene]
  • GLE1:GLE1 RNA export mediator [Gene - OMIM - HGNC]
  • GARNL3:GTPase activating Rap/RanGAP domain like 3 [Gene - HGNC]
  • GAPVD1:GTPase activating protein and VPS9 domains 1 [Gene - OMIM - HGNC]
  • HSPA5-DT:HSPA5 divergent transcript [Gene - HGNC]
  • LMX1B:LIM homeobox transcription factor 1 beta [Gene - OMIM - HGNC]
  • LMX1B-DT:LMX1B divergent transcript [Gene - HGNC]
  • MAPKAP1:MAPK associated protein 1 [Gene - OMIM - HGNC]
  • LOC126860769:MED14-independent group 3 enhancer GRCh37_chr9:130094714-130095913 [Gene]
  • LOC126860770:MED14-independent group 3 enhancer GRCh37_chr9:130098321-130099520 [Gene]
  • MIR219A2HG:MIR219A2 host gene [Gene - HGNC]
  • LOC129390114:MPRA-validated peak7335 silencer [Gene]
  • LOC132089664:Neanderthal introgressed variant-containing enhancer experimental_106628 [Gene]
  • LOC132089665:Neanderthal introgressed variant-containing enhancer experimental_106693 [Gene]
  • LOC132089666:Neanderthal introgressed variant-containing enhancer experimental_106710 [Gene]
  • ODF2-AS1:ODF2 antisense RNA 1 [Gene - HGNC]
  • LOC126860765:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:128411544-128412743 [Gene]
  • LOC126860766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:129236685-129237884 [Gene]
  • LOC126860767:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:129920824-129922023 [Gene]
  • PBX3:PBX homeobox 3 [Gene - OMIM - HGNC]
  • PBX3-DT:PBX3 divergent transcript [Gene - HGNC]
  • PTGES2-AS1:PTGES2 antisense RNA 1 (head to head) [Gene - HGNC]
  • RABEPK:Rab9 effector protein with kelch motifs [Gene - OMIM - HGNC]
  • RALGPS1:Ral GEF with PH domain and SH3 binding motif 1 [Gene - OMIM - HGNC]
  • SH2D3C:SH2 domain containing 3C [Gene - OMIM - HGNC]
  • SLC25A25-AS1:SLC25A25 antisense RNA 1 [Gene - HGNC]
  • ST6GALNAC4:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 [Gene - OMIM - HGNC]
  • ST6GALNAC6:ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST6GALNAC4-ST6GALNAC6-AK1:ST6GALNAC4-ST6GALNAC6-AK1 readthrough [Gene]
  • SWI5:SWI5 homologous recombination repair protein [Gene - OMIM - HGNC]
  • LOC113839509:Sharpr-MPRA regulatory region 10550 [Gene]
  • LOC121366025:Sharpr-MPRA regulatory region 12295 [Gene]
  • LOC124310653:Sharpr-MPRA regulatory region 12606 [Gene]
  • LOC124310642:Sharpr-MPRA regulatory region 1305 [Gene]
  • LOC121811718:Sharpr-MPRA regulatory region 13338 [Gene]
  • LOC113839507:Sharpr-MPRA regulatory region 13831 [Gene]
  • LOC113839517:Sharpr-MPRA regulatory region 14380 [Gene]
  • LOC113839508:Sharpr-MPRA regulatory region 14561 [Gene]
  • LOC121811719:Sharpr-MPRA regulatory region 1494 [Gene]
  • LOC124310648:Sharpr-MPRA regulatory region 1510 [Gene]
  • LOC124310643:Sharpr-MPRA regulatory region 15662 [Gene]
  • LOC113839512:Sharpr-MPRA regulatory region 2041 [Gene]
  • LOC124310654:Sharpr-MPRA regulatory region 290 [Gene]
  • LOC121366026:Sharpr-MPRA regulatory region 3640 [Gene]
  • LOC124310645:Sharpr-MPRA regulatory region 3753 [Gene]
  • LOC113839510:Sharpr-MPRA regulatory region 4083 [Gene]
  • LOC124310649:Sharpr-MPRA regulatory region 4407 [Gene]
  • LOC113839515:Sharpr-MPRA regulatory region 4689 [Gene]
  • LOC124310651:Sharpr-MPRA regulatory region 4771 [Gene]
  • LOC113839514:Sharpr-MPRA regulatory region 5179 [Gene]
  • LOC121366027:Sharpr-MPRA regulatory region 532 [Gene]
  • LOC124310646:Sharpr-MPRA regulatory region 6068 [Gene]
  • LOC124310650:Sharpr-MPRA regulatory region 6524 [Gene]
  • LOC113839513:Sharpr-MPRA regulatory region 6856 [Gene]
  • LOC124310644:Sharpr-MPRA regulatory region 7128 [Gene]
  • LOC113839511:Sharpr-MPRA regulatory region 7866 [Gene]
  • LOC113839506:Sharpr-MPRA regulatory region 7891 [Gene]
  • LOC124310647:Sharpr-MPRA regulatory region 8141 [Gene]
  • LOC113839516:Sharpr-MPRA regulatory region 8497 [Gene]
  • LOC113839524:Sharpr-MPRA regulatory region 9551 [Gene]
  • LOC124310652:Sharpr-MPRA regulatory region 9989 [Gene]
  • TRUB2:TruB pseudouridine synthase family member 2 [Gene - OMIM - HGNC]
  • LOC110120962:VISTA enhancer hs1015 [Gene]
  • LOC110120963:VISTA enhancer hs1017 [Gene]
  • LOC110120968:VISTA enhancer hs1030 [Gene]
  • LOC110120989:VISTA enhancer hs1102 [Gene]
  • LOC110120603:VISTA enhancer hs186 [Gene]
  • LOC114827831:VISTA enhancer hs2342 [Gene]
  • LOC110120779:VISTA enhancer hs818 [Gene]
  • LOC110120820:VISTA enhancer hs987 [Gene]
  • AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
  • ANGPTL2:angiopoietin like 2 [Gene - OMIM - HGNC]
  • BBLN:bublin coiled coil protein [Gene - HGNC]
  • CERCAM:cerebral endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • CFAP157:cilia and flagella associated protein 157 [Gene - HGNC]
  • COQ4:coenzyme Q4 [Gene - OMIM - HGNC]
  • LOC106783495:conserved acetylation island sequence 15 enhancer [Gene]
  • CDK9:cyclin dependent kinase 9 [Gene - OMIM - HGNC]
  • DPM2:dolichyl-phosphate mannosyltransferase subunit 2, regulatory [Gene - OMIM - HGNC]
  • DNM1:dynamin 1 [Gene - OMIM - HGNC]
  • DYNC2I2:dynein 2 intermediate chain 2 [Gene - OMIM - HGNC]
  • ENG:endoglin [Gene - OMIM - HGNC]
  • EEIG1:estrogen-induced osteoclastogenesis regulator 1 [Gene - OMIM - HGNC]
  • FPGS:folylpolyglutamate synthase [Gene - OMIM - HGNC]
  • GOLGA2:golgin A2 [Gene - OMIM - HGNC]
  • HSPA5:heat shock protein family A (Hsp70) member 5 [Gene - OMIM - HGNC]
  • LRSAM1:leucine rich repeat and sterile alpha motif containing 1 [Gene - OMIM - HGNC]
  • LCN2:lipocalin 2 [Gene - OMIM - HGNC]
  • MIR199B:microRNA 199b [Gene - OMIM - HGNC]
  • MIR219A2:microRNA 219a-2 [Gene - HGNC]
  • MIR219B:microRNA 219b [Gene - HGNC]
  • MIR2861:microRNA 2861 [Gene - OMIM - HGNC]
  • MIR3154:microRNA 3154 [Gene - HGNC]
  • MIR3911:microRNA 3911 [Gene - HGNC]
  • MIR3960:microRNA 3960 [Gene - HGNC]
  • MIR4672:microRNA 4672 [Gene - HGNC]
  • MVB12B:multivesicular body subunit 12B [Gene - HGNC]
  • NIBAN2:niban apoptosis regulator 2 [Gene - OMIM - HGNC]
  • NRON:non-coding repressor of NFAT [Gene - OMIM - HGNC]
  • NAIF1:nuclear apoptosis inducing factor 1 [Gene - OMIM - HGNC]
  • ODF2:outer dense fiber of sperm tails 2 [Gene - OMIM - HGNC]
  • PTRH1:peptidyl-tRNA hydrolase 1 homolog [Gene - HGNC]
  • PIP5KL1:phosphatidylinositol-4-phosphate 5-kinase like 1 [Gene - OMIM - HGNC]
  • PTGES2:prostaglandin E synthase 2 [Gene - OMIM - HGNC]
  • PPP6C:protein phosphatase 6 catalytic subunit [Gene - OMIM - HGNC]
  • RPL12:ribosomal protein L12 [Gene - OMIM - HGNC]
  • SNORA65:small nucleolar RNA, H/ACA box 65 [Gene - HGNC]
  • SLC2A8:solute carrier family 2 member 8 [Gene - OMIM - HGNC]
  • SLC25A25:solute carrier family 25 member 25 [Gene - OMIM - HGNC]
  • SLC27A4:solute carrier family 27 member 4 [Gene - OMIM - HGNC]
  • SPTAN1:spectrin alpha, non-erythrocytic 1 [Gene - OMIM - HGNC]
  • SCAI:suppressor of cancer cell invasion [Gene - OMIM - HGNC]
  • STXBP1:syntaxin binding protein 1 [Gene - OMIM - HGNC]
  • TRR-TCT3-1:tRNA-Arg (anticodon TCT) 3-1 [Gene - HGNC]
  • TTC16:tetratricopeptide repeat domain 16 [Gene - HGNC]
  • TOR2A:torsin family 2 member A [Gene - OMIM - HGNC]
  • URM1:ubiquitin related modifier 1 [Gene - OMIM - HGNC]
  • LOC101929116:uncharacterized LOC101929116 [Gene]
  • LOC101929270:uncharacterized LOC101929270 [Gene]
  • LOC102723566:uncharacterized LOC102723566 [Gene]
  • LOC105376271:uncharacterized LOC105376271 [Gene]
  • ZBTB34:zinc finger and BTB domain containing 34 [Gene - OMIM - HGNC]
  • ZBTB43:zinc finger and BTB domain containing 43 [Gene - OMIM - HGNC]
  • ZNF79:zinc finger protein 79 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q33.3-34.11
Genomic location:
Preferred name:
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1
HGVS:
  • NC_000009.12:g.(?_125055865)_(128637946_?)del
  • NC_000009.10:g.(?_126857965)_(130440046_?)del
  • NC_000009.11:g.(?_127818144)_(131400225_?)del
Links:
dbVar: nssv1494928; dbVar: nsv868966
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
SCV000178038ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 20, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000178038.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024