GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)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:: RCV000052916.7

Allele description [Variation Report for GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1]

GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1

Genes:

LOC130002064:ATAC-STARR-seq lymphoblastoid active region 28589 [Gene]
LOC130002066:ATAC-STARR-seq lymphoblastoid active region 28592 [Gene]
LOC130002067:ATAC-STARR-seq lymphoblastoid active region 28593 [Gene]
LOC130002068:ATAC-STARR-seq lymphoblastoid active region 28596 [Gene]
LOC130002070:ATAC-STARR-seq lymphoblastoid active region 28597 [Gene]
LOC130002071:ATAC-STARR-seq lymphoblastoid active region 28598 [Gene]
LOC130002072:ATAC-STARR-seq lymphoblastoid active region 28599 [Gene]
LOC130002073:ATAC-STARR-seq lymphoblastoid active region 28601 [Gene]
LOC130002074:ATAC-STARR-seq lymphoblastoid active region 28602 [Gene]
LOC130002075:ATAC-STARR-seq lymphoblastoid active region 28603 [Gene]
LOC130002078:ATAC-STARR-seq lymphoblastoid active region 28604 [Gene]
LOC130002080:ATAC-STARR-seq lymphoblastoid active region 28606 [Gene]
LOC130002081:ATAC-STARR-seq lymphoblastoid active region 28607 [Gene]
LOC130002082:ATAC-STARR-seq lymphoblastoid active region 28608 [Gene]
LOC130002083:ATAC-STARR-seq lymphoblastoid active region 28609 [Gene]
LOC130002084:ATAC-STARR-seq lymphoblastoid active region 28610 [Gene]
LOC130002085:ATAC-STARR-seq lymphoblastoid active region 28611 [Gene]
LOC130002086:ATAC-STARR-seq lymphoblastoid active region 28612 [Gene]
LOC130002090:ATAC-STARR-seq lymphoblastoid active region 28613 [Gene]
LOC130002091:ATAC-STARR-seq lymphoblastoid active region 28614 [Gene]
LOC130002092:ATAC-STARR-seq lymphoblastoid active region 28616 [Gene]
LOC130002093:ATAC-STARR-seq lymphoblastoid active region 28617 [Gene]
LOC130002096:ATAC-STARR-seq lymphoblastoid active region 28619 [Gene]
LOC130002097:ATAC-STARR-seq lymphoblastoid active region 28620 [Gene]
LOC130002101:ATAC-STARR-seq lymphoblastoid active region 28621 [Gene]
LOC130002102:ATAC-STARR-seq lymphoblastoid active region 28622 [Gene]
LOC130002103:ATAC-STARR-seq lymphoblastoid active region 28623 [Gene]
LOC130002108:ATAC-STARR-seq lymphoblastoid active region 28625 [Gene]
LOC130002109:ATAC-STARR-seq lymphoblastoid active region 28626 [Gene]
LOC130002110:ATAC-STARR-seq lymphoblastoid active region 28627 [Gene]
LOC130002114:ATAC-STARR-seq lymphoblastoid active region 28628 [Gene]
LOC130002116:ATAC-STARR-seq lymphoblastoid active region 28631 [Gene]
LOC130002118:ATAC-STARR-seq lymphoblastoid active region 28632 [Gene]
LOC130002119:ATAC-STARR-seq lymphoblastoid active region 28635 [Gene]
LOC130002120:ATAC-STARR-seq lymphoblastoid active region 28636 [Gene]
LOC130002127:ATAC-STARR-seq lymphoblastoid active region 28637 [Gene]
LOC130002134:ATAC-STARR-seq lymphoblastoid active region 28641 [Gene]
LOC130002136:ATAC-STARR-seq lymphoblastoid active region 28642 [Gene]
LOC130002137:ATAC-STARR-seq lymphoblastoid active region 28643 [Gene]
LOC130002138:ATAC-STARR-seq lymphoblastoid active region 28644 [Gene]
LOC130002139:ATAC-STARR-seq lymphoblastoid active region 28645 [Gene]
LOC130002141:ATAC-STARR-seq lymphoblastoid active region 28648 [Gene]
LOC130002142:ATAC-STARR-seq lymphoblastoid active region 28649 [Gene]
LOC130002143:ATAC-STARR-seq lymphoblastoid active region 28650 [Gene]
LOC130002145:ATAC-STARR-seq lymphoblastoid active region 28651 [Gene]
LOC130002148:ATAC-STARR-seq lymphoblastoid active region 28652 [Gene]
LOC130002149:ATAC-STARR-seq lymphoblastoid active region 28653 [Gene]
LOC130002152:ATAC-STARR-seq lymphoblastoid active region 28654 [Gene]
LOC130002164:ATAC-STARR-seq lymphoblastoid active region 28655 [Gene]
LOC130002062:ATAC-STARR-seq lymphoblastoid silent region 20027 [Gene]
LOC130002063:ATAC-STARR-seq lymphoblastoid silent region 20028 [Gene]
LOC130002065:ATAC-STARR-seq lymphoblastoid silent region 20030 [Gene]
LOC130002069:ATAC-STARR-seq lymphoblastoid silent region 20031 [Gene]
LOC130002076:ATAC-STARR-seq lymphoblastoid silent region 20032 [Gene]
LOC130002077:ATAC-STARR-seq lymphoblastoid silent region 20033 [Gene]
LOC130002079:ATAC-STARR-seq lymphoblastoid silent region 20034 [Gene]
LOC130002087:ATAC-STARR-seq lymphoblastoid silent region 20037 [Gene]
LOC130002088:ATAC-STARR-seq lymphoblastoid silent region 20038 [Gene]
LOC130002089:ATAC-STARR-seq lymphoblastoid silent region 20039 [Gene]
LOC130002094:ATAC-STARR-seq lymphoblastoid silent region 20040 [Gene]
LOC130002095:ATAC-STARR-seq lymphoblastoid silent region 20041 [Gene]
LOC130002098:ATAC-STARR-seq lymphoblastoid silent region 20043 [Gene]
LOC130002099:ATAC-STARR-seq lymphoblastoid silent region 20045 [Gene]
LOC130002100:ATAC-STARR-seq lymphoblastoid silent region 20046 [Gene]
LOC130002104:ATAC-STARR-seq lymphoblastoid silent region 20047 [Gene]
LOC130002105:ATAC-STARR-seq lymphoblastoid silent region 20048 [Gene]
LOC130002106:ATAC-STARR-seq lymphoblastoid silent region 20049 [Gene]
LOC130002107:ATAC-STARR-seq lymphoblastoid silent region 20050 [Gene]
LOC130002111:ATAC-STARR-seq lymphoblastoid silent region 20051 [Gene]
LOC130002112:ATAC-STARR-seq lymphoblastoid silent region 20053 [Gene]
LOC130002113:ATAC-STARR-seq lymphoblastoid silent region 20054 [Gene]
LOC130002115:ATAC-STARR-seq lymphoblastoid silent region 20055 [Gene]
LOC130002117:ATAC-STARR-seq lymphoblastoid silent region 20057 [Gene]
LOC130002121:ATAC-STARR-seq lymphoblastoid silent region 20058 [Gene]
LOC130002122:ATAC-STARR-seq lymphoblastoid silent region 20059 [Gene]
LOC130002123:ATAC-STARR-seq lymphoblastoid silent region 20060 [Gene]
LOC130002124:ATAC-STARR-seq lymphoblastoid silent region 20061 [Gene]
LOC130002125:ATAC-STARR-seq lymphoblastoid silent region 20062 [Gene]
LOC130002126:ATAC-STARR-seq lymphoblastoid silent region 20063 [Gene]
LOC130002128:ATAC-STARR-seq lymphoblastoid silent region 20064 [Gene]
LOC130002129:ATAC-STARR-seq lymphoblastoid silent region 20065 [Gene]
LOC130002130:ATAC-STARR-seq lymphoblastoid silent region 20067 [Gene]
LOC130002131:ATAC-STARR-seq lymphoblastoid silent region 20068 [Gene]
LOC130002132:ATAC-STARR-seq lymphoblastoid silent region 20069 [Gene]
LOC130002133:ATAC-STARR-seq lymphoblastoid silent region 20071 [Gene]
LOC130002135:ATAC-STARR-seq lymphoblastoid silent region 20074 [Gene]
LOC130002140:ATAC-STARR-seq lymphoblastoid silent region 20075 [Gene]
LOC130002144:ATAC-STARR-seq lymphoblastoid silent region 20076 [Gene]
LOC130002146:ATAC-STARR-seq lymphoblastoid silent region 20077 [Gene]
LOC130002147:ATAC-STARR-seq lymphoblastoid silent region 20078 [Gene]
LOC130002150:ATAC-STARR-seq lymphoblastoid silent region 20079 [Gene]
LOC130002151:ATAC-STARR-seq lymphoblastoid silent region 20080 [Gene]
LOC130002153:ATAC-STARR-seq lymphoblastoid silent region 20083 [Gene]
LOC130002154:ATAC-STARR-seq lymphoblastoid silent region 20084 [Gene]
LOC130002155:ATAC-STARR-seq lymphoblastoid silent region 20085 [Gene]
LOC130002156:ATAC-STARR-seq lymphoblastoid silent region 20086 [Gene]
LOC130002157:ATAC-STARR-seq lymphoblastoid silent region 20087 [Gene]
LOC130002158:ATAC-STARR-seq lymphoblastoid silent region 20088 [Gene]
LOC130002159:ATAC-STARR-seq lymphoblastoid silent region 20089 [Gene]
LOC130002160:ATAC-STARR-seq lymphoblastoid silent region 20090 [Gene]
LOC130002161:ATAC-STARR-seq lymphoblastoid silent region 20091 [Gene]
LOC130002162:ATAC-STARR-seq lymphoblastoid silent region 20092 [Gene]
LOC130002163:ATAC-STARR-seq lymphoblastoid silent region 20093 [Gene]
LOC130002165:ATAC-STARR-seq lymphoblastoid silent region 20094 [Gene]
LOC130002166:ATAC-STARR-seq lymphoblastoid silent region 20095 [Gene]
LOC130002167:ATAC-STARR-seq lymphoblastoid silent region 20096 [Gene]
BARX1:BARX homeobox 1 [Gene - OMIM - HGNC]
BARX1-DT:BARX1 divergent transcript [Gene - HGNC]
BICD2:BICD cargo adaptor 2 [Gene - OMIM - HGNC]
LOC126860688:BRD4-independent group 4 enhancer GRCh37_chr9:98596601-98597800 [Gene]
LOC126860689:BRD4-independent group 4 enhancer GRCh37_chr9:98850190-98851389 [Gene]
LOC126860690:BRD4-independent group 4 enhancer GRCh37_chr9:99182517-99183716 [Gene]
LOC126860691:BRD4-independent group 4 enhancer GRCh37_chr9:99284685-99285884 [Gene]
LOC126860683:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:96748340-96749539 [Gene]
LOC126860684:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:96767229-96768428 [Gene]
LOC126860686:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97780096-97781295 [Gene]
LOC126860687:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:97785561-97786760 [Gene]
LOC113839574:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:98389397-98390596 [Gene]
LOC126860693:CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:99646252-99647451 [Gene]
ERCC6L2:ERCC excision repair 6 like 2 [Gene - OMIM - HGNC]
ERCC6L2-AS1:ERCC6L2 antisense RNA 1 [Gene - HGNC]
FANCC:FA complementation group C [Gene - OMIM - HGNC]
FGD3:FYVE, RhoGEF and PH domain containing 3 [Gene - OMIM - HGNC]
HSD17B3-AS1:HSD17B3 antisense RNA 1 [Gene - HGNC]
LOC113839570:MED14-independent group 3 enhancer GRCh37_chr9:94909356-94910555 [Gene]
LOC126860682:MED14-independent group 3 enhancer GRCh37_chr9:95320296-95321495 [Gene]
LOC129390094:MPRA-validated peak7293 silencer [Gene]
LOC129390095:MPRA-validated peak7296 silencer [Gene]
LOC129390096:MPRA-validated peak7297 silencer [Gene]
LOC129390097:MPRA-validated peak7299 silencer [Gene]
LOC129390098:MPRA-validated peak7301 silencer [Gene]
NUTM2F:NUT family member 2F [Gene - HGNC]
NUTM2G:NUT family member 2G [Gene - HGNC]
LOC132089710:Neanderthal introgressed variant-containing enhancer experimental_109450 [Gene]
LOC132090792:Neanderthal introgressed variant-containing enhancer experimental_109489 [Gene]
LOC132089711:Neanderthal introgressed variant-containing enhancer experimental_109628 [Gene]
LOC132089712:Neanderthal introgressed variant-containing enhancer experimental_109638 [Gene]
LOC132089713:Neanderthal introgressed variant-containing enhancer experimental_109781 [Gene]
LOC132089714:Neanderthal introgressed variant-containing enhancer experimental_109803 [Gene]
LOC132089715:Neanderthal introgressed variant-containing enhancer experimental_109806 [Gene]
LOC132090793:Neanderthal introgressed variant-containing enhancer experimental_109845 [Gene]
LOC132089716:Neanderthal introgressed variant-containing enhancer experimental_109877 [Gene]
LOC132089717:Neanderthal introgressed variant-containing enhancer experimental_109906 [Gene]
LOC132089718:Neanderthal introgressed variant-containing enhancer experimental_109914 [Gene]
LOC132089719:Neanderthal introgressed variant-containing enhancer experimental_109955 [Gene]
LOC132089720:Neanderthal introgressed variant-containing enhancer experimental_110021 [Gene]
LOC132089721:Neanderthal introgressed variant-containing enhancer experimental_110048 [Gene]
LOC132089722:Neanderthal introgressed variant-containing enhancer experimental_110072 [Gene]
LOC132089723:Neanderthal introgressed variant-containing enhancer experimental_110085 [Gene]
LOC132089724:Neanderthal introgressed variant-containing enhancer experimental_110230 [Gene]
LOC132089725:Neanderthal introgressed variant-containing enhancer experimental_110244 [Gene]
LOC132089726:Neanderthal introgressed variant-containing enhancer experimental_110264 [Gene]
LOC132089727:Neanderthal introgressed variant-containing enhancer experimental_110288 [Gene]
LOC132089728:Neanderthal introgressed variant-containing enhancer experimental_110294 [Gene]
LOC132090794:Neanderthal introgressed variant-containing enhancer experimental_110389 [Gene]
LOC132089729:Neanderthal introgressed variant-containing enhancer experimental_110405 [Gene]
LOC132089730:Neanderthal introgressed variant-containing enhancer experimental_110431 [Gene]
LOC132089731:Neanderthal introgressed variant-containing enhancer experimental_110513 [Gene]
LOC132089732:Neanderthal introgressed variant-containing enhancer experimental_110548 [Gene]
LOC132089733:Neanderthal introgressed variant-containing enhancer experimental_110630 [Gene]
LOC132089734:Neanderthal introgressed variant-containing enhancer experimental_110687 [Gene]
LOC132089735:Neanderthal introgressed variant-containing enhancer experimental_110694 [Gene]
LOC132089736:Neanderthal introgressed variant-containing enhancer experimental_110728 [Gene]
LOC132089737:Neanderthal introgressed variant-containing enhancer experimental_110786 [Gene]
LOC132089738:Neanderthal introgressed variant-containing enhancer experimental_110853 [Gene]
LOC132089739:Neanderthal introgressed variant-containing enhancer experimental_110866 [Gene]
LOC132089740:Neanderthal introgressed variant-containing enhancer experimental_110873 [Gene]
LOC126860685:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:97482699-97483898 [Gene]
LOC126860692:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:99636216-99637415 [Gene]
PHF2:PHD finger protein 2 [Gene - OMIM - HGNC]
LOC108228205:PTPDC1-MIRLET7DHG intergenic CAGE-defined high expression enhancer [Gene]
SLC35D2-HSD17B3:SLC35D2-HSD17B3 readthrough [Gene]
LOC124310603:Sharpr-MPRA regulatory region 10311 [Gene]
LOC113839568:Sharpr-MPRA regulatory region 1031 [Gene]
LOC124310592:Sharpr-MPRA regulatory region 10357 [Gene]
LOC124310589:Sharpr-MPRA regulatory region 10393 [Gene]
LOC124310599:Sharpr-MPRA regulatory region 1060 [Gene]
LOC124310595:Sharpr-MPRA regulatory region 10736 [Gene]
LOC124310587:Sharpr-MPRA regulatory region 11306 [Gene]
LOC113839572:Sharpr-MPRA regulatory region 12079 [Gene]
LOC124310600:Sharpr-MPRA regulatory region 12092 [Gene]
LOC124310604:Sharpr-MPRA regulatory region 12242 [Gene]
LOC124310588:Sharpr-MPRA regulatory region 13679 [Gene]
LOC121331336:Sharpr-MPRA regulatory region 13927 [Gene]
LOC124310594:Sharpr-MPRA regulatory region 14176 [Gene]
LOC124310597:Sharpr-MPRA regulatory region 1665 [Gene]
LOC124310598:Sharpr-MPRA regulatory region 1693 [Gene]
LOC124310585:Sharpr-MPRA regulatory region 183 [Gene]
LOC113839571:Sharpr-MPRA regulatory region 2132 [Gene]
LOC124310593:Sharpr-MPRA regulatory region 2222 [Gene]
LOC124310586:Sharpr-MPRA regulatory region 3268 [Gene]
LOC121811711:Sharpr-MPRA regulatory region 3853 [Gene]
LOC113839573:Sharpr-MPRA regulatory region 4009 [Gene]
LOC124310591:Sharpr-MPRA regulatory region 4124 [Gene]
LOC121331335:Sharpr-MPRA regulatory region 6609 [Gene]
LOC124310590:Sharpr-MPRA regulatory region 768 [Gene]
LOC124310596:Sharpr-MPRA regulatory region 8238 [Gene]
LOC124310584:Sharpr-MPRA regulatory region 8875 [Gene]
LOC124310601:Sharpr-MPRA regulatory region 8876 [Gene]
LOC124310602:Sharpr-MPRA regulatory region 9073 [Gene]
LOC113839569:Sharpr-MPRA regulatory region 9366 [Gene]
LOC110121043:VISTA enhancer hs1258 [Gene]
LOC110121093:VISTA enhancer hs1417 [Gene]
WNK2:WNK lysine deficient protein kinase 2 [Gene - OMIM - HGNC]
AOPEP:aminopeptidase O (putative) [Gene - OMIM - HGNC]
ASPN:asporin [Gene - OMIM - HGNC]
CARD19:caspase recruitment domain family member 19 [Gene - OMIM - HGNC]
CDC14B:cell division cycle 14B [Gene - OMIM - HGNC]
CENPP:centromere protein P [Gene - OMIM - HGNC]
ECM2:extracellular matrix protein 2 [Gene - OMIM - HGNC]
FAM120AOS:family with sequence similarity 120 member A opposite strand [Gene - HGNC]
FAM120A:family with sequence similarity 120 member A [Gene - OMIM - HGNC]
FBP1:fructose-bisphosphatase 1 [Gene - OMIM - HGNC]
FBP2:fructose-bisphosphatase 2 [Gene - OMIM - HGNC]
HABP4:hyaluronan binding protein 4 [Gene - OMIM - HGNC]
HSD17B3:hydroxysteroid 17-beta dehydrogenase 3 [Gene - OMIM - HGNC]
IPPK:inositol-pentakisphosphate 2-kinase [Gene - OMIM - HGNC]
IARS1:isoleucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
LINC02603:long intergenic non-protein coding RNA 2603 [Gene - HGNC]
LINC00475:long intergenic non-protein coding RNA 475 [Gene - HGNC]
LINC00092:long intergenic non-protein coding RNA 92 [Gene - HGNC]
MFSD14B:major facilitator superfamily domain containing 14B [Gene - OMIM - HGNC]
MFSD14C:major facilitator superfamily domain containing 14C [Gene - HGNC]
MIRLET7A1HG:miRlet-7a-1/let-7f-1/let-7d cluster host gene [Gene - HGNC]
MIR2278:microRNA 2278 [Gene - HGNC]
MIR23B:microRNA 23b [Gene - OMIM - HGNC]
MIR24-1:microRNA 24-1 [Gene - OMIM - HGNC]
MIR27B:microRNA 27b [Gene - OMIM - HGNC]
MIR3074:microRNA 3074 [Gene - HGNC]
MIR3651:microRNA 3651 [Gene - HGNC]
MIR3910-1:microRNA 3910-1 [Gene - HGNC]
MIR3910-2:microRNA 3910-2 [Gene - HGNC]
MIR4291:microRNA 4291 [Gene - HGNC]
MIR4670:microRNA 4670 [Gene - HGNC]
MIR548AU:microRNA 548au [Gene - HGNC]
MIR6081:microRNA 6081 [Gene - HGNC]
MIRLET7A1:microRNA let-7a-1 [Gene - OMIM - HGNC]
MIRLET7D:microRNA let-7d [Gene - OMIM - HGNC]
MIRLET7F1:microRNA let-7f-1 [Gene - OMIM - HGNC]
NINJ1:ninjurin 1 [Gene - OMIM - HGNC]
NOL8:nucleolar protein 8 [Gene - OMIM - HGNC]
OGN:osteoglycin [Gene - OMIM - HGNC]
OMD:osteomodulin [Gene - OMIM - HGNC]
PTCH1:patched 1 [Gene - OMIM - HGNC]
PRXL2C:peroxiredoxin like 2C [Gene - HGNC]
PCAT7:prostate cancer associated transcript 7 [Gene - HGNC]
PTPDC1:protein tyrosine phosphatase domain containing 1 [Gene - HGNC]
ROR2:receptor tyrosine kinase like orphan receptor 2 [Gene - OMIM - HGNC]
SPTLC1:serine palmitoyltransferase long chain base subunit 1 [Gene - OMIM - HGNC]
PRSS47:serine protease 47 [Gene - HGNC]
SNORA84:small nucleolar RNA, H/ACA box 84 [Gene - HGNC]
SLC35D2:solute carrier family 35 member D2 [Gene - OMIM - HGNC]
SUSD3:sushi domain containing 3 [Gene - OMIM - HGNC]
LOC100128361:uncharacterized LOC100128361 [Gene]
LOC100132077:uncharacterized LOC100132077 [Gene]
LOC100507346:uncharacterized LOC100507346 [Gene]
LOC101927954:uncharacterized LOC101927954 [Gene]
LOC101927993:uncharacterized LOC101927993 [Gene]
LOC101928014:uncharacterized LOC101928014 [Gene]
LOC101928119:uncharacterized LOC101928119 [Gene]
LOC101929748:uncharacterized LOC101929748 [Gene]
LOC105376156:uncharacterized LOC105376156 [Gene]
LOC105376159:uncharacterized LOC105376159 [Gene]
LOC158434:uncharacterized LOC158434 [Gene]
LOC158435:uncharacterized LOC158435 [Gene]
ZNF169:zinc finger protein 169 [Gene - OMIM - HGNC]
ZNF367:zinc finger protein 367 [Gene - OMIM - HGNC]
ZNF484:zinc finger protein 484 [Gene - HGNC]
ZNF510:zinc finger protein 510 [Gene - OMIM - HGNC]
ZNF782:zinc finger protein 782 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

9q22.31-22.33

Genomic location:

Preferred name:

GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1

HGVS:

NC_000009.12:g.(?_91596533)_(97018746_?)del
NC_000009.10:g.(?_93398636)_(98820849_?)del
NC_000009.11:g.(?_94358815)_(99781028_?)del

Links:

dbVar: nssv578334; dbVar: nsv531630

Observations:

Condition(s)

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

Recent activity

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Childhood Desmoplastic Small Round Cell Tumor
Childhood Desmoplastic Small Round Cell Tumor

MedGen
C1332966[conceptid] (1)
MedGen
Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family), ...
Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family), mRNA (cDNA clone MGC:150920 IMAGE:40125862), complete cds
gi|109658701|gb|BC117311.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080270	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000080270

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 2011)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000080270.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine