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GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)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:
RCV000051836.5

Allele description [Variation Report for GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3]

GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3

Genes:
  • HMGCS1:3-hydroxy-3-methylglutaryl-CoA synthase 1 [Gene - OMIM - HGNC]
  • OXCT1:3-oxoacid CoA-transferase 1 [Gene - OMIM - HGNC]
  • ANXA2R-AS1:ANXA2R antisense RNA 1 [Gene - HGNC]
  • ANXA2R-OT1:ANXA2R overlapping transcript 1 [Gene - HGNC]
  • LOC129993803:ATAC-STARR-seq lymphoblastoid active region 22479 [Gene]
  • LOC129993804:ATAC-STARR-seq lymphoblastoid active region 22480 [Gene]
  • LOC129993806:ATAC-STARR-seq lymphoblastoid active region 22481 [Gene]
  • LOC129993807:ATAC-STARR-seq lymphoblastoid active region 22482 [Gene]
  • LOC129993808:ATAC-STARR-seq lymphoblastoid active region 22483 [Gene]
  • LOC129993810:ATAC-STARR-seq lymphoblastoid active region 22484 [Gene]
  • LOC129993814:ATAC-STARR-seq lymphoblastoid active region 22485 [Gene]
  • LOC129993817:ATAC-STARR-seq lymphoblastoid active region 22486 [Gene]
  • LOC129993818:ATAC-STARR-seq lymphoblastoid active region 22487 [Gene]
  • LOC129993819:ATAC-STARR-seq lymphoblastoid active region 22488 [Gene]
  • LOC129993820:ATAC-STARR-seq lymphoblastoid active region 22489 [Gene]
  • LOC129993821:ATAC-STARR-seq lymphoblastoid active region 22490 [Gene]
  • LOC129993822:ATAC-STARR-seq lymphoblastoid active region 22492 [Gene]
  • LOC129993823:ATAC-STARR-seq lymphoblastoid active region 22493 [Gene]
  • LOC129993825:ATAC-STARR-seq lymphoblastoid active region 22495 [Gene]
  • LOC129993826:ATAC-STARR-seq lymphoblastoid active region 22496 [Gene]
  • LOC129993827:ATAC-STARR-seq lymphoblastoid active region 22497 [Gene]
  • LOC129993828:ATAC-STARR-seq lymphoblastoid active region 22498 [Gene]
  • LOC129993829:ATAC-STARR-seq lymphoblastoid active region 22499 [Gene]
  • LOC129993830:ATAC-STARR-seq lymphoblastoid active region 22500 [Gene]
  • LOC129993831:ATAC-STARR-seq lymphoblastoid active region 22501 [Gene]
  • LOC129993832:ATAC-STARR-seq lymphoblastoid active region 22502 [Gene]
  • LOC129993834:ATAC-STARR-seq lymphoblastoid active region 22503 [Gene]
  • LOC129993837:ATAC-STARR-seq lymphoblastoid active region 22504 [Gene]
  • LOC129993839:ATAC-STARR-seq lymphoblastoid active region 22505 [Gene]
  • LOC129993840:ATAC-STARR-seq lymphoblastoid active region 22506 [Gene]
  • LOC129993841:ATAC-STARR-seq lymphoblastoid active region 22507 [Gene]
  • LOC129993842:ATAC-STARR-seq lymphoblastoid active region 22508 [Gene]
  • LOC129993843:ATAC-STARR-seq lymphoblastoid active region 22510 [Gene]
  • LOC129993845:ATAC-STARR-seq lymphoblastoid active region 22512 [Gene]
  • LOC129993846:ATAC-STARR-seq lymphoblastoid active region 22513 [Gene]
  • LOC129993847:ATAC-STARR-seq lymphoblastoid active region 22516 [Gene]
  • LOC129993848:ATAC-STARR-seq lymphoblastoid active region 22517 [Gene]
  • LOC129993849:ATAC-STARR-seq lymphoblastoid active region 22518 [Gene]
  • LOC129993850:ATAC-STARR-seq lymphoblastoid active region 22520 [Gene]
  • LOC129993851:ATAC-STARR-seq lymphoblastoid active region 22521 [Gene]
  • LOC129993852:ATAC-STARR-seq lymphoblastoid active region 22523 [Gene]
  • LOC129993853:ATAC-STARR-seq lymphoblastoid active region 22526 [Gene]
  • LOC129993855:ATAC-STARR-seq lymphoblastoid active region 22527 [Gene]
  • LOC129993856:ATAC-STARR-seq lymphoblastoid active region 22528 [Gene]
  • LOC129993857:ATAC-STARR-seq lymphoblastoid active region 22532 [Gene]
  • LOC129993858:ATAC-STARR-seq lymphoblastoid active region 22533 [Gene]
  • LOC129993859:ATAC-STARR-seq lymphoblastoid active region 22534 [Gene]
  • LOC129993862:ATAC-STARR-seq lymphoblastoid active region 22535 [Gene]
  • LOC129993863:ATAC-STARR-seq lymphoblastoid active region 22536 [Gene]
  • LOC129993864:ATAC-STARR-seq lymphoblastoid active region 22537 [Gene]
  • LOC129993865:ATAC-STARR-seq lymphoblastoid active region 22538 [Gene]
  • LOC129993868:ATAC-STARR-seq lymphoblastoid active region 22540 [Gene]
  • LOC129993872:ATAC-STARR-seq lymphoblastoid active region 22542 [Gene]
  • LOC129993877:ATAC-STARR-seq lymphoblastoid active region 22543 [Gene]
  • LOC129993805:ATAC-STARR-seq lymphoblastoid silent region 15973 [Gene]
  • LOC129993809:ATAC-STARR-seq lymphoblastoid silent region 15974 [Gene]
  • LOC129993811:ATAC-STARR-seq lymphoblastoid silent region 15975 [Gene]
  • LOC129993812:ATAC-STARR-seq lymphoblastoid silent region 15976 [Gene]
  • LOC129993813:ATAC-STARR-seq lymphoblastoid silent region 15977 [Gene]
  • LOC129993815:ATAC-STARR-seq lymphoblastoid silent region 15978 [Gene]
  • LOC129993816:ATAC-STARR-seq lymphoblastoid silent region 15979 [Gene]
  • LOC129993824:ATAC-STARR-seq lymphoblastoid silent region 15980 [Gene]
  • LOC129993833:ATAC-STARR-seq lymphoblastoid silent region 15982 [Gene]
  • LOC129993835:ATAC-STARR-seq lymphoblastoid silent region 15983 [Gene]
  • LOC129993836:ATAC-STARR-seq lymphoblastoid silent region 15984 [Gene]
  • LOC129993838:ATAC-STARR-seq lymphoblastoid silent region 15985 [Gene]
  • LOC129993844:ATAC-STARR-seq lymphoblastoid silent region 15986 [Gene]
  • LOC129993854:ATAC-STARR-seq lymphoblastoid silent region 15989 [Gene]
  • LOC129993860:ATAC-STARR-seq lymphoblastoid silent region 15990 [Gene]
  • LOC129993861:ATAC-STARR-seq lymphoblastoid silent region 15992 [Gene]
  • LOC129993866:ATAC-STARR-seq lymphoblastoid silent region 15993 [Gene]
  • LOC129993867:ATAC-STARR-seq lymphoblastoid silent region 15994 [Gene]
  • LOC129993869:ATAC-STARR-seq lymphoblastoid silent region 15995 [Gene]
  • LOC129993870:ATAC-STARR-seq lymphoblastoid silent region 15996 [Gene]
  • LOC129993871:ATAC-STARR-seq lymphoblastoid silent region 15997 [Gene]
  • LOC129993873:ATAC-STARR-seq lymphoblastoid silent region 15998 [Gene]
  • LOC129993874:ATAC-STARR-seq lymphoblastoid silent region 15999 [Gene]
  • LOC129993875:ATAC-STARR-seq lymphoblastoid silent region 16000 [Gene]
  • LOC129993876:ATAC-STARR-seq lymphoblastoid silent region 16001 [Gene]
  • LOC126807367:BRD4-independent group 4 enhancer GRCh37_chr5:38463193-38464392 [Gene]
  • LOC126807368:BRD4-independent group 4 enhancer GRCh37_chr5:38466368-38467567 [Gene]
  • LOC126807369:BRD4-independent group 4 enhancer GRCh37_chr5:38830048-38831247 [Gene]
  • LOC126807370:BRD4-independent group 4 enhancer GRCh37_chr5:39380837-39382036 [Gene]
  • LOC126807371:BRD4-independent group 4 enhancer GRCh37_chr5:39382313-39383512 [Gene]
  • LOC126807373:BRD4-independent group 4 enhancer GRCh37_chr5:40877367-40878566 [Gene]
  • LOC111501791:BRD4-independent group 4 enhancer GRCh37_chr5:42950525-42951724 [Gene]
  • CCL28:C-C motif chemokine ligand 28 [Gene - OMIM - HGNC]
  • C5orf34-AS1:C5orf34 antisense RNA 1 [Gene - HGNC]
  • LOC126807358:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:36417632-36418831 [Gene]
  • LOC126807359:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:36422736-36423935 [Gene]
  • LOC126807361:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:36646148-36647347 [Gene]
  • LOC126807362:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37506116-37507315 [Gene]
  • LOC126807363:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37533396-37534595 [Gene]
  • LOC126807364:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:37724134-37725333 [Gene]
  • LOC126807374:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:41008527-41009726 [Gene]
  • LOC126807383:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:49963094-49964293 [Gene]
  • CPLANE1-AS1:CPLANE1 antisense RNA 1 [Gene - HGNC]
  • LOC116158513:CRISPRi-validated cis-regulatory element chr5.1161 [Gene]
  • LOC116158514:CRISPRi-validated cis-regulatory element chr5.1234 [Gene]
  • DAB2:DAB adaptor protein 2 [Gene - OMIM - HGNC]
  • EGFLAM:EGF like, fibronectin type III and laminin G domains [Gene - OMIM - HGNC]
  • EGFLAM-AS1:EGFLAM antisense RNA 1 [Gene - HGNC]
  • EGFLAM-AS2:EGFLAM antisense RNA 2 [Gene - HGNC]
  • EGFLAM-AS4:EGFLAM antisense RNA 4 [Gene - HGNC]
  • FBXO4:F-box protein 4 [Gene - OMIM - HGNC]
  • FGF10-AS1:FGF10 antisense RNA 1 [Gene - HGNC]
  • FGF10-INT1:FGF10 intronic enhancer [Gene]
  • FYB1:FYN binding protein 1 [Gene - OMIM - HGNC]
  • GDNF-AS1:GDNF antisense RNA 1 [Gene - HGNC]
  • LOC107963949:GHR downstream promoter region module B [Gene]
  • LOC107963950:GHR upstream promoter region module A [Gene]
  • LOC111556114:HNF1 motif-containing MPRA enhancer 12 [Gene]
  • LOC108348025:INTS6P1-LINC00603 intergenic CAGE-defined B cell enhancer [Gene]
  • LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]
  • LIFR-AS1:LIFR antisense RNA 1 [Gene - HGNC]
  • LOC126807360:MED14-independent group 3 enhancer GRCh37_chr5:36442158-36443357 [Gene]
  • LOC126807365:MED14-independent group 3 enhancer GRCh37_chr5:37847590-37848789 [Gene]
  • LOC126807366:MED14-independent group 3 enhancer GRCh37_chr5:38426700-38427899 [Gene]
  • LOC126807372:MED14-independent group 3 enhancer GRCh37_chr5:40405285-40406484 [Gene]
  • LOC126807375:MED14-independent group 3 enhancer GRCh37_chr5:41122112-41123311 [Gene]
  • LOC126807377:MED14-independent group 3 enhancer GRCh37_chr5:42886955-42888154 [Gene]
  • LOC126807378:MED14-independent group 3 enhancer GRCh37_chr5:43315036-43316235 [Gene]
  • LOC126807381:MED14-independent group 3 enhancer GRCh37_chr5:45385335-45386534 [Gene]
  • LOC128667222:MPRA-validated PTGER4 lymphoblastoid enhancer [Gene]
  • LOC129389273:MPRA-validated peak5226 silencer [Gene]
  • LOC129389274:MPRA-validated peak5227 silencer [Gene]
  • LOC129389275:MPRA-validated peak5228 silencer [Gene]
  • LOC129389276:MPRA-validated peak5230 silencer [Gene]
  • LOC129389277:MPRA-validated peak5231 silencer [Gene]
  • LOC129389278:MPRA-validated peak5232 silencer [Gene]
  • LOC129389279:MPRA-validated peak5236 silencer [Gene]
  • LOC129389280:MPRA-validated peak5237 silencer [Gene]
  • LOC129389281:MPRA-validated peak5238 silencer [Gene]
  • MRPS30-DT:MRPS30 divergent transcript [Gene - HGNC]
  • NIM1K:NIM1 serine/threonine protein kinase [Gene - HGNC]
  • NIPBL:NIPBL cohesin loading factor [Gene - OMIM - HGNC]
  • NIPBL-DT:NIPBL divergent transcript [Gene - HGNC]
  • NNT-AS1:NNT antisense RNA 1 [Gene - HGNC]
  • LOC132089244:Neanderthal introgressed variant-containing enhancer experimental_84767 [Gene]
  • LOC132089245:Neanderthal introgressed variant-containing enhancer experimental_84768 [Gene]
  • LOC132089246:Neanderthal introgressed variant-containing enhancer experimental_84809 [Gene]
  • LOC132090728:Neanderthal introgressed variant-containing enhancer experimental_84831 [Gene]
  • LOC132089247:Neanderthal introgressed variant-containing enhancer experimental_84898 [Gene]
  • LOC132089248:Neanderthal introgressed variant-containing enhancer experimental_84930 [Gene]
  • LOC132089254:Neanderthal introgressed variant-containing enhancer experimental_85089 [Gene]
  • LOC132089255:Neanderthal introgressed variant-containing enhancer experimental_85146 [Gene]
  • LOC132089256:Neanderthal introgressed variant-containing enhancer experimental_85179 [Gene]
  • LOC132089257:Neanderthal introgressed variant-containing enhancer experimental_85282 [Gene]
  • LOC132090729:Neanderthal introgressed variant-containing enhancer experimental_85301 [Gene]
  • LOC132089258:Neanderthal introgressed variant-containing enhancer experimental_85370 [Gene]
  • LOC132089259:Neanderthal introgressed variant-containing enhancer experimental_85375 [Gene]
  • LOC132089260:Neanderthal introgressed variant-containing enhancer experimental_85394 [Gene]
  • LOC132089261:Neanderthal introgressed variant-containing enhancer experimental_85421 [Gene]
  • LOC132089262:Neanderthal introgressed variant-containing enhancer experimental_85427 [Gene]
  • LOC132089263:Neanderthal introgressed variant-containing enhancer experimental_85485 [Gene]
  • LOC132089264:Neanderthal introgressed variant-containing enhancer experimental_85525 [Gene]
  • LOC132089265:Neanderthal introgressed variant-containing enhancer experimental_85570 [Gene]
  • LOC132089266:Neanderthal introgressed variant-containing enhancer experimental_85621 [Gene]
  • LOC132089267:Neanderthal introgressed variant-containing enhancer experimental_85633 [Gene]
  • LOC132089268:Neanderthal introgressed variant-containing enhancer experimental_85647 [Gene]
  • LOC132089269:Neanderthal introgressed variant-containing enhancer experimental_85852 [Gene]
  • LOC132089270:Neanderthal introgressed variant-containing enhancer experimental_85853 [Gene]
  • LOC132090730:Neanderthal introgressed variant-containing enhancer experimental_85873 [Gene]
  • LOC132089271:Neanderthal introgressed variant-containing enhancer experimental_85945 [Gene]
  • OSMR-DT:OSMR divergent transcript [Gene - HGNC]
  • OXCT1-AS1:OXCT1 antisense RNA 1 [Gene - HGNC]
  • LOC126807376:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:42090075-42091274 [Gene]
  • LOC126807379:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:43335752-43336951 [Gene]
  • LOC126807380:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:44875560-44876759 [Gene]
  • LOC126807382:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:45722136-45723335 [Gene]
  • RIMOC1:RAB7A interacting MON1-CCZ1 complex subunit 1 [Gene - OMIM - HGNC]
  • RICTOR:RPTOR independent companion of MTOR complex 2 [Gene - OMIM - HGNC]
  • LOC123493301:Sharpr-MPRA regulatory region 10845 [Gene]
  • LOC121056764:Sharpr-MPRA regulatory region 10963 [Gene]
  • LOC112997592:Sharpr-MPRA regulatory region 11344 [Gene]
  • LOC121725202:Sharpr-MPRA regulatory region 12253 [Gene]
  • LOC123493290:Sharpr-MPRA regulatory region 12809 [Gene]
  • LOC121725203:Sharpr-MPRA regulatory region 14195 [Gene]
  • LOC123493296:Sharpr-MPRA regulatory region 14491 [Gene]
  • LOC123493300:Sharpr-MPRA regulatory region 14906 [Gene]
  • LOC112997590:Sharpr-MPRA regulatory region 14991 [Gene]
  • LOC121725204:Sharpr-MPRA regulatory region 15399 [Gene]
  • LOC123493294:Sharpr-MPRA regulatory region 2046 [Gene]
  • LOC112997591:Sharpr-MPRA regulatory region 2050 [Gene]
  • LOC123493299:Sharpr-MPRA regulatory region 2267 [Gene]
  • LOC123493302:Sharpr-MPRA regulatory region 2707 [Gene]
  • LOC123493292:Sharpr-MPRA regulatory region 3878 [Gene]
  • LOC121725201:Sharpr-MPRA regulatory region 4193 [Gene]
  • LOC123493303:Sharpr-MPRA regulatory region 4627 [Gene]
  • LOC121056762:Sharpr-MPRA regulatory region 6618 [Gene]
  • LOC123493298:Sharpr-MPRA regulatory region 7038 [Gene]
  • LOC123493297:Sharpr-MPRA regulatory region 7127 [Gene]
  • LOC112997589:Sharpr-MPRA regulatory region 7458 [Gene]
  • LOC123493295:Sharpr-MPRA regulatory region 7781 [Gene]
  • LOC121056763:Sharpr-MPRA regulatory region 9095 [Gene]
  • LOC123493291:Sharpr-MPRA regulatory region 9147 [Gene]
  • LOC123493293:Sharpr-MPRA regulatory region 9268 [Gene]
  • LOC114004393:Sharpr-MPRA regulatory region 9536 [Gene]
  • LOC110121020:VISTA enhancer hs1187 [Gene]
  • LOC110120690:VISTA enhancer hs516 [Gene]
  • WDR70:WD repeat domain 70 [Gene - OMIM - HGNC]
  • ANXA2R:annexin A2 receptor [Gene - OMIM - HGNC]
  • CARD6:caspase recruitment domain family member 6 [Gene - OMIM - HGNC]
  • C5orf34:chromosome 5 open reading frame 34 [Gene - HGNC]
  • CPLANE1:ciliogenesis and planar polarity effector complex subunit 1 [Gene - OMIM - HGNC]
  • CCDC152:coiled-coil domain containing 152 [Gene - HGNC]
  • C6:complement C6 [Gene - OMIM - HGNC]
  • C7:complement C7 [Gene - OMIM - HGNC]
  • C9:complement C9 [Gene - OMIM - HGNC]
  • CREST3:conserved regulatory element of the islet-1 gene 3 [Gene]
  • EMB:embigin [Gene - OMIM - HGNC]
  • FGF10:fibroblast growth factor 10 [Gene - OMIM - HGNC]
  • GDNF:glial cell derived neurotrophic factor [Gene - OMIM - HGNC]
  • GHR:growth hormone receptor [Gene - OMIM - HGNC]
  • HCN1:hyperpolarization activated cyclic nucleotide gated potassium channel 1 [Gene - OMIM - HGNC]
  • LINC01265:long intergenic non-protein coding RNA 1265 [Gene - HGNC]
  • LINC02104:long intergenic non-protein coding RNA 2104 [Gene - HGNC]
  • LINC02106:long intergenic non-protein coding RNA 2106 [Gene - HGNC]
  • LINC02107:long intergenic non-protein coding RNA 2107 [Gene - HGNC]
  • LINC02110:long intergenic non-protein coding RNA 2110 [Gene - HGNC]
  • LINC02119:long intergenic non-protein coding RNA 2119 [Gene - HGNC]
  • LINC02224:long intergenic non-protein coding RNA 2224 [Gene - HGNC]
  • LINC02996:long intergenic non-protein coding RNA 2996 [Gene - HGNC]
  • LINC00603:long intergenic non-protein coding RNA 603 [Gene - HGNC]
  • LINC00604:long intergenic non-protein coding RNA 604 [Gene - HGNC]
  • MROH2B:maestro heat like repeat family member 2B [Gene - HGNC]
  • MIR3650:microRNA 3650 [Gene - HGNC]
  • MRPS30:mitochondrial ribosomal protein S30 [Gene - OMIM - HGNC]
  • NNT:nicotinamide nucleotide transhydrogenase [Gene - OMIM - HGNC]
  • NUP155:nucleoporin 155 [Gene - OMIM - HGNC]
  • OSMR:oncostatin M receptor [Gene - OMIM - HGNC]
  • PLCXD3:phosphatidylinositol specific phospholipase C X domain containing 3 [Gene - OMIM - HGNC]
  • PAIP1:poly(A) binding protein interacting protein 1 [Gene - OMIM - HGNC]
  • PARP8:poly(ADP-ribose) polymerase family member 8 [Gene - HGNC]
  • PTGER4:prostaglandin E receptor 4 [Gene - OMIM - HGNC]
  • PRKAA1:protein kinase AMP-activated catalytic subunit alpha 1 [Gene - OMIM - HGNC]
  • RPL37:ribosomal protein L37 [Gene - OMIM - HGNC]
  • SELENOP:selenoprotein P [Gene - OMIM - HGNC]
  • SNORD72:small nucleolar RNA, C/D box 72 [Gene - HGNC]
  • SLC1A3:solute carrier family 1 member 3 [Gene - OMIM - HGNC]
  • TTC33:tetratricopeptide repeat domain 33 [Gene - HGNC]
  • TMEM267:transmembrane protein 267 [Gene - HGNC]
  • LOC100132356:uncharacterized LOC100132356 [Gene]
  • LOC100506639:uncharacterized LOC100506639 [Gene]
  • LOC105374748:uncharacterized LOC105374748 [Gene]
  • FLJ32255:uncharacterized LOC643977 [Gene]
  • ZNF131:zinc finger protein 131 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5p13.2-q11.1
Genomic location:
Preferred name:
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3
HGVS:
  • NC_000005.10:g.(?_36374107)_(51103841_?)dup
  • NC_000005.8:g.(?_36409966)_(50435432_?)dup
  • NC_000005.9:g.(?_36374209)_(50399675_?)dup
Links:
dbVar: nssv579009; dbVar: nsv530358
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
SCV000079184GeneDx
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]

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 GeneDx, SCV000079184.4

#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