U.S. flag

An official website of the United States government

GRCh38/hg38 2q37.3(chr2:237526184-241996090)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:
RCV000052675.5

Allele description [Variation Report for GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1]

GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1

Genes:
  • LOC129935921:ATAC-STARR-seq lymphoblastoid active region 17367 [Gene]
  • LOC129935923:ATAC-STARR-seq lymphoblastoid active region 17371 [Gene]
  • LOC129935924:ATAC-STARR-seq lymphoblastoid active region 17372 [Gene]
  • LOC129935926:ATAC-STARR-seq lymphoblastoid active region 17373 [Gene]
  • LOC129935927:ATAC-STARR-seq lymphoblastoid active region 17374 [Gene]
  • LOC129935928:ATAC-STARR-seq lymphoblastoid active region 17376 [Gene]
  • LOC129935929:ATAC-STARR-seq lymphoblastoid active region 17378 [Gene]
  • LOC129935936:ATAC-STARR-seq lymphoblastoid active region 17379 [Gene]
  • LOC129935940:ATAC-STARR-seq lymphoblastoid active region 17380 [Gene]
  • LOC129935943:ATAC-STARR-seq lymphoblastoid active region 17381 [Gene]
  • LOC129935944:ATAC-STARR-seq lymphoblastoid active region 17382 [Gene]
  • LOC129935947:ATAC-STARR-seq lymphoblastoid active region 17383 [Gene]
  • LOC129935948:ATAC-STARR-seq lymphoblastoid active region 17384 [Gene]
  • LOC129935949:ATAC-STARR-seq lymphoblastoid active region 17385 [Gene]
  • LOC129935950:ATAC-STARR-seq lymphoblastoid active region 17386 [Gene]
  • LOC129935952:ATAC-STARR-seq lymphoblastoid active region 17387 [Gene]
  • LOC129935953:ATAC-STARR-seq lymphoblastoid active region 17388 [Gene]
  • LOC129935954:ATAC-STARR-seq lymphoblastoid active region 17389 [Gene]
  • LOC129935959:ATAC-STARR-seq lymphoblastoid active region 17390 [Gene]
  • LOC129935961:ATAC-STARR-seq lymphoblastoid active region 17393 [Gene]
  • LOC129935963:ATAC-STARR-seq lymphoblastoid active region 17394 [Gene]
  • LOC129935964:ATAC-STARR-seq lymphoblastoid active region 17395 [Gene]
  • LOC129935968:ATAC-STARR-seq lymphoblastoid active region 17396 [Gene]
  • LOC129935970:ATAC-STARR-seq lymphoblastoid active region 17397 [Gene]
  • LOC129935974:ATAC-STARR-seq lymphoblastoid active region 17398 [Gene]
  • LOC129935975:ATAC-STARR-seq lymphoblastoid active region 17399 [Gene]
  • LOC129935976:ATAC-STARR-seq lymphoblastoid active region 17400 [Gene]
  • LOC129935977:ATAC-STARR-seq lymphoblastoid active region 17401 [Gene]
  • LOC129935982:ATAC-STARR-seq lymphoblastoid active region 17403 [Gene]
  • LOC129935983:ATAC-STARR-seq lymphoblastoid active region 17404 [Gene]
  • LOC129935984:ATAC-STARR-seq lymphoblastoid active region 17405 [Gene]
  • LOC129935985:ATAC-STARR-seq lymphoblastoid active region 17406 [Gene]
  • LOC129935986:ATAC-STARR-seq lymphoblastoid active region 17407 [Gene]
  • LOC129935987:ATAC-STARR-seq lymphoblastoid active region 17408 [Gene]
  • LOC129935988:ATAC-STARR-seq lymphoblastoid active region 17409 [Gene]
  • LOC129935991:ATAC-STARR-seq lymphoblastoid active region 17412 [Gene]
  • LOC129935992:ATAC-STARR-seq lymphoblastoid active region 17413 [Gene]
  • LOC129935994:ATAC-STARR-seq lymphoblastoid active region 17414 [Gene]
  • LOC129935995:ATAC-STARR-seq lymphoblastoid active region 17415 [Gene]
  • LOC129935996:ATAC-STARR-seq lymphoblastoid active region 17416 [Gene]
  • LOC129935998:ATAC-STARR-seq lymphoblastoid active region 17417 [Gene]
  • LOC129935999:ATAC-STARR-seq lymphoblastoid active region 17418 [Gene]
  • LOC129936003:ATAC-STARR-seq lymphoblastoid active region 17419 [Gene]
  • LOC129936006:ATAC-STARR-seq lymphoblastoid active region 17420 [Gene]
  • LOC129936007:ATAC-STARR-seq lymphoblastoid active region 17421 [Gene]
  • LOC129936010:ATAC-STARR-seq lymphoblastoid active region 17422 [Gene]
  • LOC129936011:ATAC-STARR-seq lymphoblastoid active region 17423 [Gene]
  • LOC129936013:ATAC-STARR-seq lymphoblastoid active region 17424 [Gene]
  • LOC129936016:ATAC-STARR-seq lymphoblastoid active region 17427 [Gene]
  • LOC129936019:ATAC-STARR-seq lymphoblastoid active region 17428 [Gene]
  • LOC129936025:ATAC-STARR-seq lymphoblastoid active region 17429 [Gene]
  • LOC129936033:ATAC-STARR-seq lymphoblastoid active region 17430 [Gene]
  • LOC129936034:ATAC-STARR-seq lymphoblastoid active region 17431 [Gene]
  • LOC129935922:ATAC-STARR-seq lymphoblastoid silent region 12480 [Gene]
  • LOC129935925:ATAC-STARR-seq lymphoblastoid silent region 12481 [Gene]
  • LOC129935930:ATAC-STARR-seq lymphoblastoid silent region 12482 [Gene]
  • LOC129935931:ATAC-STARR-seq lymphoblastoid silent region 12483 [Gene]
  • LOC129935932:ATAC-STARR-seq lymphoblastoid silent region 12484 [Gene]
  • LOC129935933:ATAC-STARR-seq lymphoblastoid silent region 12485 [Gene]
  • LOC129935934:ATAC-STARR-seq lymphoblastoid silent region 12486 [Gene]
  • LOC129935935:ATAC-STARR-seq lymphoblastoid silent region 12487 [Gene]
  • LOC129935937:ATAC-STARR-seq lymphoblastoid silent region 12488 [Gene]
  • LOC129935938:ATAC-STARR-seq lymphoblastoid silent region 12492 [Gene]
  • LOC129935939:ATAC-STARR-seq lymphoblastoid silent region 12494 [Gene]
  • LOC129935941:ATAC-STARR-seq lymphoblastoid silent region 12495 [Gene]
  • LOC129935942:ATAC-STARR-seq lymphoblastoid silent region 12496 [Gene]
  • LOC129935945:ATAC-STARR-seq lymphoblastoid silent region 12497 [Gene]
  • LOC129935946:ATAC-STARR-seq lymphoblastoid silent region 12498 [Gene]
  • LOC129935951:ATAC-STARR-seq lymphoblastoid silent region 12499 [Gene]
  • LOC129935955:ATAC-STARR-seq lymphoblastoid silent region 12500 [Gene]
  • LOC129935956:ATAC-STARR-seq lymphoblastoid silent region 12501 [Gene]
  • LOC129935957:ATAC-STARR-seq lymphoblastoid silent region 12502 [Gene]
  • LOC129935958:ATAC-STARR-seq lymphoblastoid silent region 12503 [Gene]
  • LOC129935960:ATAC-STARR-seq lymphoblastoid silent region 12504 [Gene]
  • LOC129935962:ATAC-STARR-seq lymphoblastoid silent region 12506 [Gene]
  • LOC129935965:ATAC-STARR-seq lymphoblastoid silent region 12507 [Gene]
  • LOC129935966:ATAC-STARR-seq lymphoblastoid silent region 12510 [Gene]
  • LOC129935967:ATAC-STARR-seq lymphoblastoid silent region 12511 [Gene]
  • LOC129935969:ATAC-STARR-seq lymphoblastoid silent region 12512 [Gene]
  • LOC129935971:ATAC-STARR-seq lymphoblastoid silent region 12513 [Gene]
  • LOC129935972:ATAC-STARR-seq lymphoblastoid silent region 12514 [Gene]
  • LOC129935973:ATAC-STARR-seq lymphoblastoid silent region 12515 [Gene]
  • LOC129935978:ATAC-STARR-seq lymphoblastoid silent region 12516 [Gene]
  • LOC129935979:ATAC-STARR-seq lymphoblastoid silent region 12517 [Gene]
  • LOC129935980:ATAC-STARR-seq lymphoblastoid silent region 12518 [Gene]
  • LOC129935981:ATAC-STARR-seq lymphoblastoid silent region 12519 [Gene]
  • LOC129935989:ATAC-STARR-seq lymphoblastoid silent region 12522 [Gene]
  • LOC129935990:ATAC-STARR-seq lymphoblastoid silent region 12525 [Gene]
  • LOC129935993:ATAC-STARR-seq lymphoblastoid silent region 12526 [Gene]
  • LOC129935997:ATAC-STARR-seq lymphoblastoid silent region 12527 [Gene]
  • LOC129936000:ATAC-STARR-seq lymphoblastoid silent region 12528 [Gene]
  • LOC129936001:ATAC-STARR-seq lymphoblastoid silent region 12529 [Gene]
  • LOC129936002:ATAC-STARR-seq lymphoblastoid silent region 12530 [Gene]
  • LOC129936004:ATAC-STARR-seq lymphoblastoid silent region 12531 [Gene]
  • LOC129936005:ATAC-STARR-seq lymphoblastoid silent region 12532 [Gene]
  • LOC129936008:ATAC-STARR-seq lymphoblastoid silent region 12533 [Gene]
  • LOC129936009:ATAC-STARR-seq lymphoblastoid silent region 12534 [Gene]
  • LOC129936012:ATAC-STARR-seq lymphoblastoid silent region 12535 [Gene]
  • LOC129936014:ATAC-STARR-seq lymphoblastoid silent region 12537 [Gene]
  • LOC129936015:ATAC-STARR-seq lymphoblastoid silent region 12538 [Gene]
  • LOC129936017:ATAC-STARR-seq lymphoblastoid silent region 12539 [Gene]
  • LOC129936018:ATAC-STARR-seq lymphoblastoid silent region 12540 [Gene]
  • LOC129936020:ATAC-STARR-seq lymphoblastoid silent region 12541 [Gene]
  • LOC129936021:ATAC-STARR-seq lymphoblastoid silent region 12542 [Gene]
  • LOC129936022:ATAC-STARR-seq lymphoblastoid silent region 12543 [Gene]
  • LOC129936023:ATAC-STARR-seq lymphoblastoid silent region 12544 [Gene]
  • LOC129936024:ATAC-STARR-seq lymphoblastoid silent region 12545 [Gene]
  • LOC129936026:ATAC-STARR-seq lymphoblastoid silent region 12547 [Gene]
  • LOC129936027:ATAC-STARR-seq lymphoblastoid silent region 12548 [Gene]
  • LOC129936028:ATAC-STARR-seq lymphoblastoid silent region 12549 [Gene]
  • LOC129936029:ATAC-STARR-seq lymphoblastoid silent region 12553 [Gene]
  • LOC129936030:ATAC-STARR-seq lymphoblastoid silent region 12557 [Gene]
  • LOC129936031:ATAC-STARR-seq lymphoblastoid silent region 12558 [Gene]
  • LOC129936032:ATAC-STARR-seq lymphoblastoid silent region 12559 [Gene]
  • BOK:BCL2 family apoptosis regulator BOK [Gene - OMIM - HGNC]
  • BOK-AS1:BOK antisense RNA 1 [Gene - HGNC]
  • LOC126806575:BRD4-independent group 4 enhancer GRCh37_chr2:239154789-239155988 [Gene]
  • LOC126806579:BRD4-independent group 4 enhancer GRCh37_chr2:239710917-239712116 [Gene]
  • CAPN10-DT:CAPN10 divergent transcript [Gene - HGNC]
  • LOC126806578:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:239592463-239593662 [Gene]
  • LOC126806581:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240667929-240669128 [Gene]
  • LOC126806582:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240985203-240986402 [Gene]
  • LOC126806584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:242727152-242728351 [Gene]
  • LOC110599582:CEB1 minisatellite repeat instability region [Gene]
  • COPS9:COP9 signalosome subunit 9 [Gene - OMIM - HGNC]
  • LOC115947637:CRISPRi-validated cis-regulatory element chr2.7218 [Gene]
  • LOC115947638:CRISPRi-validated cis-regulatory element chr2.7219 [Gene]
  • D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • FARP2:FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Gene - OMIM - HGNC]
  • GPR35:G protein-coupled receptor 35 [Gene - OMIM - HGNC]
  • GPC1-AS1:GPC1 antisense RNA 1 [Gene - HGNC]
  • LOC115947639:H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:239330367-239331026 [Gene]
  • HDAC4-AS1:HDAC4 antisense RNA 1 [Gene - HGNC]
  • HDLBP-AS1:HDLBP antisense RNA 1 [Gene - HGNC]
  • ILKAP:ILK associated serine/threonine phosphatase [Gene - OMIM - HGNC]
  • LRRFIP1:LRR binding FLII interacting protein 1 [Gene - OMIM - HGNC]
  • LOC126806577:MED14-independent group 3 enhancer GRCh37_chr2:239426272-239427471 [Gene]
  • LOC126806580:MED14-independent group 3 enhancer GRCh37_chr2:240168807-240170006 [Gene]
  • LOC129389012:MPRA-validated peak4098 silencer [Gene]
  • LOC129389013:MPRA-validated peak4100 silencer [Gene]
  • LOC129389014:MPRA-validated peak4101 silencer [Gene]
  • LOC129389015:MPRA-validated peak4103 silencer [Gene]
  • LOC129389016:MPRA-validated peak4107 silencer [Gene]
  • NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
  • LOC111501790:NFE2L2 motif-containing MPRA enhancer 30 [Gene]
  • LOC132088825:Neanderthal introgressed variant-containing enhancer experimental_57230 [Gene]
  • LOC132090688:Neanderthal introgressed variant-containing enhancer experimental_57261 [Gene]
  • LOC132088826:Neanderthal introgressed variant-containing enhancer experimental_57269 [Gene]
  • LOC132088827:Neanderthal introgressed variant-containing enhancer experimental_57276 [Gene]
  • LOC132088828:Neanderthal introgressed variant-containing enhancer experimental_57404 [Gene]
  • LOC132088829:Neanderthal introgressed variant-containing enhancer experimental_57450 [Gene]
  • LOC132088830:Neanderthal introgressed variant-containing enhancer experimental_57458 [Gene]
  • LOC132090689:Neanderthal introgressed variant-containing enhancer experimental_57501 [Gene]
  • LOC132088831:Neanderthal introgressed variant-containing enhancer experimental_57510 [Gene]
  • LOC132088832:Neanderthal introgressed variant-containing enhancer experimental_57531 [Gene]
  • LOC132088833:Neanderthal introgressed variant-containing enhancer experimental_57691 [Gene]
  • LOC132088834:Neanderthal introgressed variant-containing enhancer experimental_57723 [Gene]
  • LOC132088835:Neanderthal introgressed variant-containing enhancer experimental_57727 [Gene]
  • LOC132088836:Neanderthal introgressed variant-containing enhancer experimental_57732 [Gene]
  • LOC132090690:Neanderthal introgressed variant-containing enhancer experimental_57796 [Gene]
  • LOC132088837:Neanderthal introgressed variant-containing enhancer experimental_58008 [Gene]
  • LOC132205954:Neanderthal introgressed variant-containing enhancers experimental_58196 and experimental_58198 [Gene]
  • LOC126806576:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:239347665-239348864 [Gene]
  • LOC126806583:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 [Gene]
  • PASK:PAS domain containing serine/threonine kinase [Gene - OMIM - HGNC]
  • RAB17-DT:RAB17 divergent transcript [Gene - HGNC]
  • RAB17:RAB17, member RAS oncogene family [Gene - OMIM - HGNC]
  • RBM44:RNA binding motif protein 44 [Gene - HGNC]
  • SNED1-AS1:SNED1 antisense RNA 1 [Gene - HGNC]
  • LOC121009634:Sharpr-MPRA regulatory region 11390 [Gene]
  • LOC121009635:Sharpr-MPRA regulatory region 11586 [Gene]
  • LOC122889015:Sharpr-MPRA regulatory region 12914 [Gene]
  • LOC112840919:Sharpr-MPRA regulatory region 14717 [Gene]
  • LOC112840918:Sharpr-MPRA regulatory region 2002 [Gene]
  • LOC122889014:Sharpr-MPRA regulatory region 3769 [Gene]
  • LOC112840914:Sharpr-MPRA regulatory region 4740 [Gene]
  • LOC121725126:Sharpr-MPRA regulatory region 5168 [Gene]
  • LOC112840920:Sharpr-MPRA regulatory region 5965 [Gene]
  • LOC121009633:Sharpr-MPRA regulatory region 636 [Gene]
  • LOC122889013:Sharpr-MPRA regulatory region 7631 [Gene]
  • LOC121725125:Sharpr-MPRA regulatory region 7730 [Gene]
  • LOC112840915:Sharpr-MPRA regulatory region 8511 [Gene]
  • THAP4:THAP domain containing 4 [Gene - OMIM - HGNC]
  • TRAF3IP1:TRAF3 interacting protein 1 [Gene - OMIM - HGNC]
  • TANAR:TWIST1 associated long noncoding RNA regulated by androgen receptor [Gene - HGNC]
  • UBE2F-SCLY:UBE2F-SCLY readthrough (NMD candidate) [Gene - HGNC]
  • LOC110121201:VISTA enhancer hs1750 [Gene]
  • LOC110121227:VISTA enhancer hs1937 [Gene]
  • LOC110121229:VISTA enhancer hs1945 [Gene]
  • LOC110121236:VISTA enhancer hs1968 [Gene]
  • AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
  • ANKMY1:ankyrin repeat and MYND domain containing 1 [Gene - HGNC]
  • ASB1:ankyrin repeat and SOCS box containing 1 [Gene - OMIM - HGNC]
  • ANO7:anoctamin 7 [Gene - OMIM - HGNC]
  • AQP12A:aquaporin 12A [Gene - OMIM - HGNC]
  • AQP12B:aquaporin 12B [Gene - HGNC]
  • RNPEPL1:arginyl aminopeptidase like 1 [Gene - OMIM - HGNC]
  • ATG4B:autophagy related 4B cysteine peptidase [Gene - OMIM - HGNC]
  • CAPN10:calpain 10 [Gene - OMIM - HGNC]
  • CROCC2:ciliary rootlet coiled-coil, rootletin family member 2 [Gene - HGNC]
  • LOC106783501:conserved acetylation island sequence C08 enhancer [Gene]
  • DTYMK:deoxythymidylate kinase [Gene - OMIM - HGNC]
  • DUSP28:dual specificity phosphatase 28 [Gene - HGNC]
  • ERFE:erythroferrone [Gene - OMIM - HGNC]
  • ESPNL:espin like [Gene - OMIM - HGNC]
  • FAM240C:family with sequence similarity 240 member C [Gene - HGNC]
  • GAL3ST2:galactose-3-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • GPC1:glypican 1 [Gene - OMIM - HGNC]
  • HES6:hes family bHLH transcription factor 6 [Gene - OMIM - HGNC]
  • HDLBP:high density lipoprotein binding protein [Gene - OMIM - HGNC]
  • HDAC4:histone deacetylase 4 [Gene - OMIM - HGNC]
  • ING5:inhibitor of growth family member 5 [Gene - OMIM - HGNC]
  • KLHL30:kelch like family member 30 [Gene - HGNC]
  • KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
  • LINC01107:long intergenic non-protein coding RNA 1107 [Gene - HGNC]
  • LINC01237:long intergenic non-protein coding RNA 1237 [Gene - HGNC]
  • LINC01238:long intergenic non-protein coding RNA 1238 [Gene - HGNC]
  • LINC01937:long intergenic non-protein coding RNA 1937 [Gene - HGNC]
  • LINC01940:long intergenic non-protein coding RNA 1940 [Gene - HGNC]
  • LINC02610:long intergenic non-protein coding RNA 2610 [Gene - HGNC]
  • LINC02991:long intergenic non-protein coding RNA 2991 [Gene - HGNC]
  • MAB21L4:mab-21 like 4 [Gene - HGNC]
  • MLPH:melanophilin [Gene - OMIM - HGNC]
  • MIR149:microRNA 149 [Gene - OMIM - HGNC]
  • MIR2467:microRNA 2467 [Gene - HGNC]
  • MIR3133:microRNA 3133 [Gene - HGNC]
  • MIR4269:microRNA 4269 [Gene - HGNC]
  • MIR4440:microRNA 4440 [Gene - HGNC]
  • MIR4441:microRNA 4441 [Gene - HGNC]
  • MIR4786:microRNA 4786 [Gene - HGNC]
  • MTERF4:mitochondrial transcription termination factor 4 [Gene - OMIM - HGNC]
  • NEU4:neuraminidase 4 [Gene - OMIM - HGNC]
  • OR6B2:olfactory receptor family 6 subfamily B member 2 [Gene - HGNC]
  • OR6B3:olfactory receptor family 6 subfamily B member 3 [Gene - HGNC]
  • OTOS:otospiralin [Gene - OMIM - HGNC]
  • PER2:period circadian regulator 2 [Gene - OMIM - HGNC]
  • PDCD1:programmed cell death 1 [Gene - OMIM - HGNC]
  • PRLH:prolactin releasing hormone [Gene - OMIM - HGNC]
  • PRR21:proline rich 21 [Gene - HGNC]
  • PPP1R7:protein phosphatase 1 regulatory subunit 7 [Gene - OMIM - HGNC]
  • RAMP1:receptor activity modifying protein 1 [Gene - OMIM - HGNC]
  • RTP5:receptor transporter protein 5 (putative) [Gene - HGNC]
  • SCLY:selenocysteine lyase [Gene - OMIM - HGNC]
  • SEPTIN2:septin 2 [Gene - OMIM - HGNC]
  • STK25:serine/threonine kinase 25 [Gene - OMIM - HGNC]
  • SNED1:sushi, nidogen and EGF like domains 1 [Gene - OMIM - HGNC]
  • TWIST2:twist family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • UBE2F:ubiquitin conjugating enzyme E2 F (putative) [Gene - OMIM - HGNC]
  • LOC100287387:uncharacterized LOC100287387 [Gene]
  • LOC150935:uncharacterized LOC150935 [Gene]
  • LOC285191:uncharacterized LOC285191 [Gene]
  • MGC16025:uncharacterized LOC85009 [Gene]
  • UICLM:up-regulated in colorectal cancer liver metastasis [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1
HGVS:
  • NC_000002.12:g.(?_237526184)_(241996090_?)del
  • NC_000002.10:g.(?_238099566)_(242586914_?)del
  • NC_000002.11:g.(?_238434827)_(242938241_?)del
Links:
dbVar: nssv577776; dbVar: nsv531390
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080029ISCA site 14

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		unknownclinical testing

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

Help

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 ISCA site 14, SCV000080029.4

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

Last Updated: May 7, 2024