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GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)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:
RCV000052142.4

Allele description

GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1

Genes:
  • ANKHD1-DT:ANKHD1 divergent transcript [Gene - HGNC]
  • ANKHD1-EIF4EBP3:ANKHD1-EIF4EBP3 readthrough [Gene - HGNC]
  • ARHGAP26-AS1:ARHGAP26 antisense RNA 1 [Gene - HGNC]
  • ARHGAP26-IT1:ARHGAP26 intronic transcript 1 [Gene - HGNC]
  • LOC129994752:ATAC-STARR-seq lymphoblastoid active region 23217 [Gene]
  • LOC129994754:ATAC-STARR-seq lymphoblastoid active region 23218 [Gene]
  • LOC129994756:ATAC-STARR-seq lymphoblastoid active region 23219 [Gene]
  • LOC129994758:ATAC-STARR-seq lymphoblastoid active region 23220 [Gene]
  • LOC129994759:ATAC-STARR-seq lymphoblastoid active region 23221 [Gene]
  • LOC129994760:ATAC-STARR-seq lymphoblastoid active region 23222 [Gene]
  • LOC129994761:ATAC-STARR-seq lymphoblastoid active region 23223 [Gene]
  • LOC129994762:ATAC-STARR-seq lymphoblastoid active region 23224 [Gene]
  • LOC129994763:ATAC-STARR-seq lymphoblastoid active region 23225 [Gene]
  • LOC129994766:ATAC-STARR-seq lymphoblastoid active region 23226 [Gene]
  • LOC129994767:ATAC-STARR-seq lymphoblastoid active region 23227 [Gene]
  • LOC129994768:ATAC-STARR-seq lymphoblastoid active region 23228 [Gene]
  • LOC129994770:ATAC-STARR-seq lymphoblastoid active region 23229 [Gene]
  • LOC129994771:ATAC-STARR-seq lymphoblastoid active region 23230 [Gene]
  • LOC129994774:ATAC-STARR-seq lymphoblastoid active region 23232 [Gene]
  • LOC129994775:ATAC-STARR-seq lymphoblastoid active region 23233 [Gene]
  • LOC129994776:ATAC-STARR-seq lymphoblastoid active region 23234 [Gene]
  • LOC129994777:ATAC-STARR-seq lymphoblastoid active region 23235 [Gene]
  • LOC129994778:ATAC-STARR-seq lymphoblastoid active region 23236 [Gene]
  • LOC129994779:ATAC-STARR-seq lymphoblastoid active region 23237 [Gene]
  • LOC129994780:ATAC-STARR-seq lymphoblastoid active region 23238 [Gene]
  • LOC129994781:ATAC-STARR-seq lymphoblastoid active region 23239 [Gene]
  • LOC129994783:ATAC-STARR-seq lymphoblastoid active region 23240 [Gene]
  • LOC129994784:ATAC-STARR-seq lymphoblastoid active region 23241 [Gene]
  • LOC129994785:ATAC-STARR-seq lymphoblastoid active region 23242 [Gene]
  • LOC129994786:ATAC-STARR-seq lymphoblastoid active region 23243 [Gene]
  • LOC129994787:ATAC-STARR-seq lymphoblastoid active region 23244 [Gene]
  • LOC129994788:ATAC-STARR-seq lymphoblastoid active region 23245 [Gene]
  • LOC129994793:ATAC-STARR-seq lymphoblastoid active region 23246 [Gene]
  • LOC129994794:ATAC-STARR-seq lymphoblastoid active region 23247 [Gene]
  • LOC129994796:ATAC-STARR-seq lymphoblastoid active region 23248 [Gene]
  • LOC129994799:ATAC-STARR-seq lymphoblastoid active region 23249 [Gene]
  • LOC129994800:ATAC-STARR-seq lymphoblastoid active region 23250 [Gene]
  • LOC129994802:ATAC-STARR-seq lymphoblastoid active region 23252 [Gene]
  • LOC129994805:ATAC-STARR-seq lymphoblastoid active region 23253 [Gene]
  • LOC129994814:ATAC-STARR-seq lymphoblastoid active region 23254 [Gene]
  • LOC129994816:ATAC-STARR-seq lymphoblastoid active region 23255 [Gene]
  • LOC129994817:ATAC-STARR-seq lymphoblastoid active region 23256 [Gene]
  • LOC129994818:ATAC-STARR-seq lymphoblastoid active region 23257 [Gene]
  • LOC129994819:ATAC-STARR-seq lymphoblastoid active region 23258 [Gene]
  • LOC129994820:ATAC-STARR-seq lymphoblastoid active region 23259 [Gene]
  • LOC129994826:ATAC-STARR-seq lymphoblastoid active region 23260 [Gene]
  • LOC129994827:ATAC-STARR-seq lymphoblastoid active region 23262 [Gene]
  • LOC129994829:ATAC-STARR-seq lymphoblastoid active region 23263 [Gene]
  • LOC129994830:ATAC-STARR-seq lymphoblastoid active region 23264 [Gene]
  • LOC129994831:ATAC-STARR-seq lymphoblastoid active region 23266 [Gene]
  • LOC129994832:ATAC-STARR-seq lymphoblastoid active region 23267 [Gene]
  • LOC129994836:ATAC-STARR-seq lymphoblastoid active region 23269 [Gene]
  • LOC129994837:ATAC-STARR-seq lymphoblastoid active region 23270 [Gene]
  • LOC129994838:ATAC-STARR-seq lymphoblastoid active region 23271 [Gene]
  • LOC129994839:ATAC-STARR-seq lymphoblastoid active region 23272 [Gene]
  • LOC129994840:ATAC-STARR-seq lymphoblastoid active region 23273 [Gene]
  • LOC129994842:ATAC-STARR-seq lymphoblastoid active region 23276 [Gene]
  • LOC129994843:ATAC-STARR-seq lymphoblastoid active region 23277 [Gene]
  • LOC129994845:ATAC-STARR-seq lymphoblastoid active region 23279 [Gene]
  • LOC129994847:ATAC-STARR-seq lymphoblastoid active region 23284 [Gene]
  • LOC129994848:ATAC-STARR-seq lymphoblastoid active region 23285 [Gene]
  • LOC129994849:ATAC-STARR-seq lymphoblastoid active region 23288 [Gene]
  • LOC129994850:ATAC-STARR-seq lymphoblastoid active region 23290 [Gene]
  • LOC129994851:ATAC-STARR-seq lymphoblastoid active region 23291 [Gene]
  • LOC129994852:ATAC-STARR-seq lymphoblastoid active region 23292 [Gene]
  • LOC129994853:ATAC-STARR-seq lymphoblastoid active region 23293 [Gene]
  • LOC129994854:ATAC-STARR-seq lymphoblastoid active region 23294 [Gene]
  • LOC129994855:ATAC-STARR-seq lymphoblastoid active region 23295 [Gene]
  • LOC129994856:ATAC-STARR-seq lymphoblastoid active region 23296 [Gene]
  • LOC129994857:ATAC-STARR-seq lymphoblastoid active region 23297 [Gene]
  • LOC129994859:ATAC-STARR-seq lymphoblastoid active region 23298 [Gene]
  • LOC129994861:ATAC-STARR-seq lymphoblastoid active region 23299 [Gene]
  • LOC129994862:ATAC-STARR-seq lymphoblastoid active region 23300 [Gene]
  • LOC129994863:ATAC-STARR-seq lymphoblastoid active region 23301 [Gene]
  • LOC129994864:ATAC-STARR-seq lymphoblastoid active region 23303 [Gene]
  • LOC129994865:ATAC-STARR-seq lymphoblastoid active region 23304 [Gene]
  • LOC129994866:ATAC-STARR-seq lymphoblastoid active region 23307 [Gene]
  • LOC129994867:ATAC-STARR-seq lymphoblastoid active region 23308 [Gene]
  • LOC129994868:ATAC-STARR-seq lymphoblastoid active region 23309 [Gene]
  • LOC129994871:ATAC-STARR-seq lymphoblastoid active region 23310 [Gene]
  • LOC129994872:ATAC-STARR-seq lymphoblastoid active region 23311 [Gene]
  • LOC129994875:ATAC-STARR-seq lymphoblastoid active region 23312 [Gene]
  • LOC129994876:ATAC-STARR-seq lymphoblastoid active region 23313 [Gene]
  • LOC129994878:ATAC-STARR-seq lymphoblastoid active region 23314 [Gene]
  • LOC129994881:ATAC-STARR-seq lymphoblastoid active region 23315 [Gene]
  • LOC129994884:ATAC-STARR-seq lymphoblastoid active region 23316 [Gene]
  • LOC129994885:ATAC-STARR-seq lymphoblastoid active region 23317 [Gene]
  • LOC129994887:ATAC-STARR-seq lymphoblastoid active region 23319 [Gene]
  • LOC129994893:ATAC-STARR-seq lymphoblastoid active region 23320 [Gene]
  • LOC129994894:ATAC-STARR-seq lymphoblastoid active region 23321 [Gene]
  • LOC129994895:ATAC-STARR-seq lymphoblastoid active region 23322 [Gene]
  • LOC129994896:ATAC-STARR-seq lymphoblastoid active region 23323 [Gene]
  • LOC129994897:ATAC-STARR-seq lymphoblastoid active region 23324 [Gene]
  • LOC129994898:ATAC-STARR-seq lymphoblastoid active region 23325 [Gene]
  • LOC129994899:ATAC-STARR-seq lymphoblastoid active region 23326 [Gene]
  • LOC129994900:ATAC-STARR-seq lymphoblastoid active region 23327 [Gene]
  • LOC129994902:ATAC-STARR-seq lymphoblastoid active region 23328 [Gene]
  • LOC129994903:ATAC-STARR-seq lymphoblastoid active region 23329 [Gene]
  • LOC129994904:ATAC-STARR-seq lymphoblastoid active region 23330 [Gene]
  • LOC129994905:ATAC-STARR-seq lymphoblastoid active region 23331 [Gene]
  • LOC129994906:ATAC-STARR-seq lymphoblastoid active region 23332 [Gene]
  • LOC129994907:ATAC-STARR-seq lymphoblastoid active region 23333 [Gene]
  • LOC129994909:ATAC-STARR-seq lymphoblastoid active region 23334 [Gene]
  • LOC129994910:ATAC-STARR-seq lymphoblastoid active region 23335 [Gene]
  • LOC129994911:ATAC-STARR-seq lymphoblastoid active region 23336 [Gene]
  • LOC129994912:ATAC-STARR-seq lymphoblastoid active region 23337 [Gene]
  • LOC129994913:ATAC-STARR-seq lymphoblastoid active region 23338 [Gene]
  • LOC129994914:ATAC-STARR-seq lymphoblastoid active region 23339 [Gene]
  • LOC129994915:ATAC-STARR-seq lymphoblastoid active region 23340 [Gene]
  • LOC129994916:ATAC-STARR-seq lymphoblastoid active region 23341 [Gene]
  • LOC129994918:ATAC-STARR-seq lymphoblastoid active region 23342 [Gene]
  • LOC129994922:ATAC-STARR-seq lymphoblastoid active region 23347 [Gene]
  • LOC129994924:ATAC-STARR-seq lymphoblastoid active region 23348 [Gene]
  • LOC129994925:ATAC-STARR-seq lymphoblastoid active region 23349 [Gene]
  • LOC129994926:ATAC-STARR-seq lymphoblastoid active region 23350 [Gene]
  • LOC129994927:ATAC-STARR-seq lymphoblastoid active region 23351 [Gene]
  • LOC129994928:ATAC-STARR-seq lymphoblastoid active region 23352 [Gene]
  • LOC129994930:ATAC-STARR-seq lymphoblastoid active region 23353 [Gene]
  • LOC129994931:ATAC-STARR-seq lymphoblastoid active region 23354 [Gene]
  • LOC129994933:ATAC-STARR-seq lymphoblastoid active region 23355 [Gene]
  • LOC129994934:ATAC-STARR-seq lymphoblastoid active region 23356 [Gene]
  • LOC129994935:ATAC-STARR-seq lymphoblastoid active region 23357 [Gene]
  • LOC129994751:ATAC-STARR-seq lymphoblastoid silent region 16405 [Gene]
  • LOC129994753:ATAC-STARR-seq lymphoblastoid silent region 16406 [Gene]
  • LOC129994755:ATAC-STARR-seq lymphoblastoid silent region 16407 [Gene]
  • LOC129994757:ATAC-STARR-seq lymphoblastoid silent region 16408 [Gene]
  • LOC129994764:ATAC-STARR-seq lymphoblastoid silent region 16409 [Gene]
  • LOC129994765:ATAC-STARR-seq lymphoblastoid silent region 16410 [Gene]
  • LOC129994769:ATAC-STARR-seq lymphoblastoid silent region 16411 [Gene]
  • LOC129994772:ATAC-STARR-seq lymphoblastoid silent region 16412 [Gene]
  • LOC129994773:ATAC-STARR-seq lymphoblastoid silent region 16413 [Gene]
  • LOC129994782:ATAC-STARR-seq lymphoblastoid silent region 16415 [Gene]
  • LOC129994789:ATAC-STARR-seq lymphoblastoid silent region 16417 [Gene]
  • LOC129994790:ATAC-STARR-seq lymphoblastoid silent region 16419 [Gene]
  • LOC129994791:ATAC-STARR-seq lymphoblastoid silent region 16420 [Gene]
  • LOC129994792:ATAC-STARR-seq lymphoblastoid silent region 16421 [Gene]
  • LOC129994795:ATAC-STARR-seq lymphoblastoid silent region 16422 [Gene]
  • LOC129994797:ATAC-STARR-seq lymphoblastoid silent region 16423 [Gene]
  • LOC129994798:ATAC-STARR-seq lymphoblastoid silent region 16424 [Gene]
  • LOC129994801:ATAC-STARR-seq lymphoblastoid silent region 16425 [Gene]
  • LOC129994803:ATAC-STARR-seq lymphoblastoid silent region 16427 [Gene]
  • LOC129994804:ATAC-STARR-seq lymphoblastoid silent region 16428 [Gene]
  • LOC129994806:ATAC-STARR-seq lymphoblastoid silent region 16429 [Gene]
  • LOC129994807:ATAC-STARR-seq lymphoblastoid silent region 16430 [Gene]
  • LOC129994808:ATAC-STARR-seq lymphoblastoid silent region 16431 [Gene]
  • LOC129994809:ATAC-STARR-seq lymphoblastoid silent region 16432 [Gene]
  • LOC129994810:ATAC-STARR-seq lymphoblastoid silent region 16433 [Gene]
  • LOC129994811:ATAC-STARR-seq lymphoblastoid silent region 16434 [Gene]
  • LOC129994812:ATAC-STARR-seq lymphoblastoid silent region 16435 [Gene]
  • LOC129994813:ATAC-STARR-seq lymphoblastoid silent region 16436 [Gene]
  • LOC129994815:ATAC-STARR-seq lymphoblastoid silent region 16437 [Gene]
  • LOC129994821:ATAC-STARR-seq lymphoblastoid silent region 16440 [Gene]
  • LOC129994822:ATAC-STARR-seq lymphoblastoid silent region 16441 [Gene]
  • LOC129994823:ATAC-STARR-seq lymphoblastoid silent region 16442 [Gene]
  • LOC129994824:ATAC-STARR-seq lymphoblastoid silent region 16443 [Gene]
  • LOC129994825:ATAC-STARR-seq lymphoblastoid silent region 16444 [Gene]
  • LOC129994828:ATAC-STARR-seq lymphoblastoid silent region 16446 [Gene]
  • LOC129994833:ATAC-STARR-seq lymphoblastoid silent region 16447 [Gene]
  • LOC129994834:ATAC-STARR-seq lymphoblastoid silent region 16448 [Gene]
  • LOC129994835:ATAC-STARR-seq lymphoblastoid silent region 16449 [Gene]
  • LOC129994841:ATAC-STARR-seq lymphoblastoid silent region 16450 [Gene]
  • LOC129994844:ATAC-STARR-seq lymphoblastoid silent region 16451 [Gene]
  • LOC129994846:ATAC-STARR-seq lymphoblastoid silent region 16452 [Gene]
  • LOC129994858:ATAC-STARR-seq lymphoblastoid silent region 16453 [Gene]
  • LOC129994860:ATAC-STARR-seq lymphoblastoid silent region 16454 [Gene]
  • LOC129994869:ATAC-STARR-seq lymphoblastoid silent region 16457 [Gene]
  • LOC129994870:ATAC-STARR-seq lymphoblastoid silent region 16458 [Gene]
  • LOC129994873:ATAC-STARR-seq lymphoblastoid silent region 16459 [Gene]
  • LOC129994874:ATAC-STARR-seq lymphoblastoid silent region 16460 [Gene]
  • LOC129994877:ATAC-STARR-seq lymphoblastoid silent region 16464 [Gene]
  • LOC129994879:ATAC-STARR-seq lymphoblastoid silent region 16465 [Gene]
  • LOC129994880:ATAC-STARR-seq lymphoblastoid silent region 16466 [Gene]
  • LOC129994882:ATAC-STARR-seq lymphoblastoid silent region 16467 [Gene]
  • LOC129994883:ATAC-STARR-seq lymphoblastoid silent region 16470 [Gene]
  • LOC129994886:ATAC-STARR-seq lymphoblastoid silent region 16471 [Gene]
  • LOC129994888:ATAC-STARR-seq lymphoblastoid silent region 16473 [Gene]
  • LOC129994889:ATAC-STARR-seq lymphoblastoid silent region 16474 [Gene]
  • LOC129994890:ATAC-STARR-seq lymphoblastoid silent region 16475 [Gene]
  • LOC129994891:ATAC-STARR-seq lymphoblastoid silent region 16476 [Gene]
  • LOC129994892:ATAC-STARR-seq lymphoblastoid silent region 16477 [Gene]
  • LOC129994901:ATAC-STARR-seq lymphoblastoid silent region 16478 [Gene]
  • LOC129994908:ATAC-STARR-seq lymphoblastoid silent region 16479 [Gene]
  • LOC129994917:ATAC-STARR-seq lymphoblastoid silent region 16480 [Gene]
  • LOC129994919:ATAC-STARR-seq lymphoblastoid silent region 16481 [Gene]
  • LOC129994920:ATAC-STARR-seq lymphoblastoid silent region 16482 [Gene]
  • LOC129994921:ATAC-STARR-seq lymphoblastoid silent region 16483 [Gene]
  • LOC129994923:ATAC-STARR-seq lymphoblastoid silent region 16484 [Gene]
  • LOC129994929:ATAC-STARR-seq lymphoblastoid silent region 16485 [Gene]
  • LOC129994932:ATAC-STARR-seq lymphoblastoid silent region 16486 [Gene]
  • ARAP3:ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
  • LOC126807531:BRD4-independent group 4 enhancer GRCh37_chr5:141037429-141038628 [Gene]
  • CD14:CD14 molecule [Gene - OMIM - HGNC]
  • LOC126807526:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:138657767-138658966 [Gene]
  • LOC126807533:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:141721844-141723043 [Gene]
  • LOC126807534:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:142024170-142025369 [Gene]
  • LOC126807536:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143543592-143544791 [Gene]
  • LOC126807537:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:143762205-143763404 [Gene]
  • LOC126807538:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:144157357-144158556 [Gene]
  • LOC126807539:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:144966712-144967911 [Gene]
  • LOC116158523:CRISPRi-validated cis-regulatory element chr5.3240 [Gene]
  • LOC116158524:CRISPRi-validated cis-regulatory element chr5.3497 [Gene]
  • CXXC5:CXXC finger protein 5 [Gene - OMIM - HGNC]
  • CXXC5-AS1:CXXC5 antisense RNA 1 [Gene - HGNC]
  • DELE1:DAP3 binding cell death enhancer 1 [Gene - OMIM - HGNC]
  • DIAPH1-AS1:DIAPH1 antisense RNA 1 [Gene - HGNC]
  • DND1:DND microRNA-mediated repression inhibitor 1 [Gene - OMIM - HGNC]
  • DNAJC18:DnaJ heat shock protein family (Hsp40) member C18 [Gene - HGNC]
  • FCHSD1:FCH and double SH3 domains 1 [Gene - OMIM - HGNC]
  • LOC109113859:FGF1 promoter B [Gene]
  • LOC109113860:FGF1 promoter C [Gene]
  • LOC109113862:FGF1 promoter D [Gene]
  • LOC119407423:HARS1 and HARS2 bidirectional promoter region [Gene]
  • IK:IK cytokine [Gene - OMIM - HGNC]
  • IGIP:IgA inducing protein [Gene - HGNC]
  • LOC126807528:MED14-independent group 3 enhancer GRCh37_chr5:139638840-139640039 [Gene]
  • LOC126807529:MED14-independent group 3 enhancer GRCh37_chr5:139702306-139703505 [Gene]
  • LOC129389378:MPRA-validated peak5496 silencer [Gene]
  • LOC129389379:MPRA-validated peak5501 silencer [Gene]
  • LOC129389380:MPRA-validated peak5504 silencer [Gene]
  • LOC129389381:MPRA-validated peak5506 silencer [Gene]
  • LOC129389382:MPRA-validated peak5509 silencer [Gene]
  • LOC129389383:MPRA-validated peak5512 silencer [Gene]
  • LOC129389384:MPRA-validated peak5513 silencer [Gene]
  • NDUFA2:NADH:ubiquinone oxidoreductase subunit A2 [Gene - OMIM - HGNC]
  • NDFIP1:Nedd4 family interacting protein 1 [Gene - OMIM - HGNC]
  • LOC126807527:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:139364881-139366080 [Gene]
  • LOC126807530:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:140090124-140091323 [Gene]
  • LOC126807532:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:141580673-141581872 [Gene]
  • LOC126807535:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:142388320-142389519 [Gene]
  • LOC111365180:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:142974806-142976005 [Gene]
  • PCDHB1-AS1:PCDHB1 antisense RNA 1 [Gene - HGNC]
  • PRELID2:PRELI domain containing 2 [Gene - HGNC]
  • PSD2-AS1:PSD2 antisense RNA 1 [Gene - HGNC]
  • RELL2:RELT like 2 [Gene - OMIM - HGNC]
  • ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM - HGNC]
  • SIL1:SIL1 nucleotide exchange factor [Gene - OMIM - HGNC]
  • SPRY4-AS1:SPRY4 antisense RNA 1 [Gene - HGNC]
  • SPRY4-IT1:SPRY4 intronic transcript 1 [Gene - OMIM - HGNC]
  • LOC112997565:Sharpr-MPRA regulatory region 10277 [Gene]
  • LOC123522803:Sharpr-MPRA regulatory region 11914 [Gene]
  • LOC123575581:Sharpr-MPRA regulatory region 12170 [Gene]
  • LOC121099705:Sharpr-MPRA regulatory region 13534 [Gene]
  • LOC123522801:Sharpr-MPRA regulatory region 13556 [Gene]
  • LOC123566731:Sharpr-MPRA regulatory region 13681 [Gene]
  • LOC112997563:Sharpr-MPRA regulatory region 13738 [Gene]
  • LOC123566730:Sharpr-MPRA regulatory region 15063 [Gene]
  • LOC123522805:Sharpr-MPRA regulatory region 3182 [Gene]
  • LOC121099707:Sharpr-MPRA regulatory region 3450 [Gene]
  • LOC121099704:Sharpr-MPRA regulatory region 3558 [Gene]
  • LOC123522804:Sharpr-MPRA regulatory region 4362 [Gene]
  • LOC123566734:Sharpr-MPRA regulatory region 4900 [Gene]
  • LOC123522802:Sharpr-MPRA regulatory region 4960 [Gene]
  • LOC112997562:Sharpr-MPRA regulatory region 6103 [Gene]
  • LOC123566732:Sharpr-MPRA regulatory region 64 [Gene]
  • LOC123575582:Sharpr-MPRA regulatory region 7053 [Gene]
  • LOC112997564:Sharpr-MPRA regulatory region 738 [Gene]
  • LOC123522806:Sharpr-MPRA regulatory region 8105 [Gene]
  • LOC123575580:Sharpr-MPRA regulatory region 837 [Gene]
  • LOC123566733:Sharpr-MPRA regulatory region 8612 [Gene]
  • LOC114004389:Sharpr-MPRA regulatory region 9103 [Gene]
  • LOC121099706:Sharpr-MPRA regulatory region 9292 [Gene]
  • LOC114004388:Sharpr-MPRA regulatory region 9303 [Gene]
  • LOC121099703:Sharpr-MPRA regulatory region 996 [Gene]
  • TAF7:TATA-box binding protein associated factor 7 [Gene - OMIM - HGNC]
  • LOC110121171:VISTA enhancer hs1640 [Gene]
  • LOC120285837:VISTA enhancer hs2610 [Gene]
  • WDR55:WD repeat domain 55 [Gene - HGNC]
  • YIPF5:Yip1 domain family member 5 [Gene - OMIM - HGNC]
  • APBB3:amyloid beta precursor protein binding family B member 3 [Gene - OMIM - HGNC]
  • ANKHD1:ankyrin repeat and KH domain containing 1 [Gene - OMIM - HGNC]
  • CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]
  • CYSTM1:cysteine rich transmembrane module containing 1 [Gene - HGNC]
  • DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
  • ECSCR:endothelial cell surface expressed chemotaxis and apoptosis regulator [Gene - OMIM - HGNC]
  • EIF4EBP3:eukaryotic translation initiation factor 4E binding protein 3 [Gene - OMIM - HGNC]
  • FGF1:fibroblast growth factor 1 [Gene - OMIM - HGNC]
  • GNPDA1:glucosamine-6-phosphate deaminase 1 [Gene - OMIM - HGNC]
  • HBEGF:heparin binding EGF like growth factor [Gene - OMIM - HGNC]
  • HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • HMHB1:histocompatibility minor HB-1 [Gene - OMIM - HGNC]
  • HDAC3:histone deacetylase 3 [Gene - OMIM - HGNC]
  • LRRTM2:leucine rich repeat transmembrane neuronal 2 [Gene - OMIM - HGNC]
  • LINC01844:long intergenic non-protein coding RNA 1844 [Gene - HGNC]
  • MZB1:marginal zone B and B1 cell specific protein [Gene - OMIM - HGNC]
  • MATR3:matrin 3 [Gene - OMIM - HGNC]
  • MIR3655:microRNA 3655 [Gene - HGNC]
  • MIR5197:microRNA 5197 [Gene - HGNC]
  • MIR6831:microRNA 6831 [Gene - HGNC]
  • MALINC1:mitosis associated long intergenic non-coding RNA 1 [Gene - HGNC]
  • NRG2:neuregulin 2 [Gene - OMIM - HGNC]
  • NR3C1:nuclear receptor subfamily 3 group C member 1 [Gene - OMIM - HGNC]
  • PSD2:pleckstrin and Sec7 domain containing 2 [Gene - HGNC]
  • PAIP2:poly(A) binding protein interacting protein 2 [Gene - OMIM - HGNC]
  • KCTD16:potassium channel tetramerization domain containing 16 [Gene - OMIM - HGNC]
  • PFDN1:prefoldin subunit 1 [Gene - OMIM - HGNC]
  • PROB1:proline rich basic protein 1 [Gene - HGNC]
  • PCDH12:protocadherin 12 [Gene - OMIM - HGNC]
  • PCDH1:protocadherin 1 [Gene - OMIM - HGNC]
  • PCDHA10:protocadherin alpha 10 [Gene - OMIM - HGNC]
  • PCDHA11:protocadherin alpha 11 [Gene - OMIM - HGNC]
  • PCDHA12:protocadherin alpha 12 [Gene - OMIM - HGNC]
  • PCDHA13:protocadherin alpha 13 [Gene - OMIM - HGNC]
  • PCDHA1:protocadherin alpha 1 [Gene - OMIM - HGNC]
  • PCDHA2:protocadherin alpha 2 [Gene - OMIM - HGNC]
  • PCDHA3:protocadherin alpha 3 [Gene - OMIM - HGNC]
  • PCDHA4:protocadherin alpha 4 [Gene - OMIM - HGNC]
  • PCDHA5:protocadherin alpha 5 [Gene - OMIM - HGNC]
  • PCDHA6:protocadherin alpha 6 [Gene - OMIM - HGNC]
  • PCDHA7:protocadherin alpha 7 [Gene - OMIM - HGNC]
  • PCDHA8:protocadherin alpha 8 [Gene - OMIM - HGNC]
  • PCDHA9:protocadherin alpha 9 [Gene - OMIM - HGNC]
  • PCDHA@:protocadherin alpha cluster, complex locus [Gene - OMIM - HGNC]
  • PCDHACT:protocadherin alpha constant [Gene - HGNC]
  • PCDHAC1:protocadherin alpha subfamily C, 1 [Gene - OMIM - HGNC]
  • PCDHAC2:protocadherin alpha subfamily C, 2 [Gene - OMIM - HGNC]
  • PCDHB10:protocadherin beta 10 [Gene - OMIM - HGNC]
  • PCDHB11:protocadherin beta 11 [Gene - OMIM - HGNC]
  • PCDHB12:protocadherin beta 12 [Gene - OMIM - HGNC]
  • PCDHB13:protocadherin beta 13 [Gene - OMIM - HGNC]
  • PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
  • PCDHB15:protocadherin beta 15 [Gene - OMIM - HGNC]
  • PCDHB16:protocadherin beta 16 [Gene - OMIM - HGNC]
  • PCDHB1:protocadherin beta 1 [Gene - OMIM - HGNC]
  • PCDHB2:protocadherin beta 2 [Gene - OMIM - HGNC]
  • PCDHB3:protocadherin beta 3 [Gene - OMIM - HGNC]
  • PCDHB4:protocadherin beta 4 [Gene - OMIM - HGNC]
  • PCDHB5:protocadherin beta 5 [Gene - OMIM - HGNC]
  • PCDHB6:protocadherin beta 6 [Gene - OMIM - HGNC]
  • PCDHB7:protocadherin beta 7 [Gene - OMIM - HGNC]
  • PCDHB8:protocadherin beta 8 [Gene - OMIM - HGNC]
  • PCDHB9:protocadherin beta 9 [Gene - OMIM - HGNC]
  • PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
  • PCDHG@:protocadherin gamma cluster [Gene - OMIM - HGNC]
  • PCDHGA10:protocadherin gamma subfamily A, 10 [Gene - OMIM - HGNC]
  • PCDHGA11:protocadherin gamma subfamily A, 11 [Gene - OMIM - HGNC]
  • PCDHGA12:protocadherin gamma subfamily A, 12 [Gene - OMIM - HGNC]
  • PCDHGA1:protocadherin gamma subfamily A, 1 [Gene - OMIM - HGNC]
  • PCDHGA2:protocadherin gamma subfamily A, 2 [Gene - OMIM - HGNC]
  • PCDHGA3:protocadherin gamma subfamily A, 3 [Gene - OMIM - HGNC]
  • PCDHGA4:protocadherin gamma subfamily A, 4 [Gene - OMIM - HGNC]
  • PCDHGA5:protocadherin gamma subfamily A, 5 [Gene - OMIM - HGNC]
  • PCDHGA6:protocadherin gamma subfamily A, 6 [Gene - OMIM - HGNC]
  • PCDHGA7:protocadherin gamma subfamily A, 7 [Gene - OMIM - HGNC]
  • PCDHGA8:protocadherin gamma subfamily A, 8 [Gene - OMIM - HGNC]
  • PCDHGA9:protocadherin gamma subfamily A, 9 [Gene - OMIM - HGNC]
  • PCDHGB1:protocadherin gamma subfamily B, 1 [Gene - OMIM - HGNC]
  • PCDHGB2:protocadherin gamma subfamily B, 2 [Gene - OMIM - HGNC]
  • PCDHGB3:protocadherin gamma subfamily B, 3 [Gene - OMIM - HGNC]
  • PCDHGB4:protocadherin gamma subfamily B, 4 [Gene - OMIM - HGNC]
  • PCDHGB5:protocadherin gamma subfamily B, 5 [Gene - OMIM - HGNC]
  • PCDHGB6:protocadherin gamma subfamily B, 6 [Gene - OMIM - HGNC]
  • PCDHGB7:protocadherin gamma subfamily B, 7 [Gene - OMIM - HGNC]
  • PCDHGC3:protocadherin gamma subfamily C, 3 [Gene - OMIM - HGNC]
  • PCDHGC4:protocadherin gamma subfamily C, 4 [Gene - OMIM - HGNC]
  • PCDHGC5:protocadherin gamma subfamily C, 5 [Gene - OMIM - HGNC]
  • PURA:purine rich element binding protein A [Gene - OMIM - HGNC]
  • RNF14:ring finger protein 14 [Gene - OMIM - HGNC]
  • SMIM33:small integral membrane protein 33 [Gene - HGNC]
  • SNHG4:small nucleolar RNA host gene 4 [Gene - HGNC]
  • SNORA74A:small nucleolar RNA, H/ACA box 74A [Gene - HGNC]
  • SNORA74D:small nucleolar RNA, H/ACA box 74D [Gene - HGNC]
  • SLC23A1:solute carrier family 23 member 1 [Gene - OMIM - HGNC]
  • SLC25A2:solute carrier family 25 member 2 [Gene - OMIM - HGNC]
  • SLC35A4:solute carrier family 35 member A4 [Gene - OMIM - HGNC]
  • SLC4A9:solute carrier family 4 member 9 [Gene - OMIM - HGNC]
  • SPATA24:spermatogenesis associated 24 [Gene - HGNC]
  • SPRY4:sprouty RTK signaling antagonist 4 [Gene - OMIM - HGNC]
  • SRA1:steroid receptor RNA activator 1 [Gene - OMIM - HGNC]
  • STING1:stimulator of interferon response cGAMP interactor 1 [Gene - OMIM - HGNC]
  • TMCO6:transmembrane and coiled-coil domains 6 [Gene - HGNC]
  • UBE2D2:ubiquitin conjugating enzyme E2 D2 [Gene - OMIM - HGNC]
  • LOC101929719:uncharacterized LOC101929719 [Gene]
  • LOC112267934:uncharacterized LOC112267934 [Gene]
  • LOC131768270:uncharacterized LOC131768270 [Gene]
  • VTRNA1-1:vault RNA 1-1 [Gene - OMIM - HGNC]
  • VTRNA1-2:vault RNA 1-2 [Gene - OMIM - HGNC]
  • VTRNA1-3:vault RNA 1-3 [Gene - OMIM - HGNC]
  • ZMAT2:zinc finger matrin-type 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q31.2-32
Genomic location:
Preferred name:
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1
HGVS:
  • NC_000005.10:g.(?_138871137)_(145812309_?)del
  • NC_000005.8:g.(?_138234725)_(145172065_?)del
  • NC_000005.9:g.(?_138206826)_(145191872_?)del
Links:
dbVar: nssv578086; dbVar: nsv530853
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
SCV000079491ISCA site 15

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 15, SCV000079491.4

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

Last Updated: Oct 14, 2023