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GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000139504.6

Allele description [Variation Report for GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3]

GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3

Genes:
  • HTR4:5-hydroxytryptamine receptor 4 [Gene - OMIM - HGNC]
  • ARHGAP26-AS1:ARHGAP26 antisense RNA 1 [Gene - HGNC]
  • ARHGAP26-IT1:ARHGAP26 intronic transcript 1 [Gene - HGNC]
  • 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]
  • LOC129994937:ATAC-STARR-seq lymphoblastoid active region 23358 [Gene]
  • LOC129994938:ATAC-STARR-seq lymphoblastoid active region 23359 [Gene]
  • LOC129994939:ATAC-STARR-seq lymphoblastoid active region 23360 [Gene]
  • LOC129994940:ATAC-STARR-seq lymphoblastoid active region 23361 [Gene]
  • LOC129994941:ATAC-STARR-seq lymphoblastoid active region 23362 [Gene]
  • LOC129994943:ATAC-STARR-seq lymphoblastoid active region 23363 [Gene]
  • LOC129994944:ATAC-STARR-seq lymphoblastoid active region 23364 [Gene]
  • LOC129994945:ATAC-STARR-seq lymphoblastoid active region 23365 [Gene]
  • LOC129994946:ATAC-STARR-seq lymphoblastoid active region 23366 [Gene]
  • LOC129994948:ATAC-STARR-seq lymphoblastoid active region 23367 [Gene]
  • LOC129994949:ATAC-STARR-seq lymphoblastoid active region 23368 [Gene]
  • LOC129994950:ATAC-STARR-seq lymphoblastoid active region 23369 [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]
  • LOC129994936:ATAC-STARR-seq lymphoblastoid silent region 16487 [Gene]
  • LOC129994942:ATAC-STARR-seq lymphoblastoid silent region 16489 [Gene]
  • LOC129994947:ATAC-STARR-seq lymphoblastoid silent region 16490 [Gene]
  • LOC129994951:ATAC-STARR-seq lymphoblastoid silent region 16491 [Gene]
  • LOC129994952:ATAC-STARR-seq lymphoblastoid silent region 16492 [Gene]
  • LOC129994953:ATAC-STARR-seq lymphoblastoid silent region 16493 [Gene]
  • LOC129994954:ATAC-STARR-seq lymphoblastoid silent region 16496 [Gene]
  • LOC129994955:ATAC-STARR-seq lymphoblastoid silent region 16497 [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]
  • LOC126807548:BRD4-independent group 4 enhancer GRCh37_chr5:148566792-148567991 [Gene]
  • LOC108178993:CAGE-defined high expression enhancer downstream of SPINK6 [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]
  • LOC126807540:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:145407216-145408415 [Gene]
  • LOC126807541:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:146111026-146112225 [Gene]
  • LOC126807542:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:146473503-146474702 [Gene]
  • LOC126807543:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147051411-147052610 [Gene]
  • LOC126807544:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:147609822-147611021 [Gene]
  • LOC126807545:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:148289701-148290900 [Gene]
  • LOC116158524:CRISPRi-validated cis-regulatory element chr5.3497 [Gene]
  • LOC116158525:CRISPRi-validated cis-regulatory element chr5.3602 [Gene]
  • DELE1:DAP3 binding cell death enhancer 1 [Gene - OMIM - HGNC]
  • DIAPH1-AS1:DIAPH1 antisense RNA 1 [Gene - HGNC]
  • FBXO38:F-box protein 38 [Gene - OMIM - HGNC]
  • FBXO38-DT:FBXO38 divergent transcript [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]
  • GPR151:G protein-coupled receptor 151 [Gene - OMIM - HGNC]
  • GRPEL2-AS1:GRPEL2 antisense RNA 1 [Gene - HGNC]
  • GRPEL2:GrpE like 2, mitochondrial [Gene - OMIM - HGNC]
  • JAKMIP2-AS1:JAKMIP2 antisense RNA 1 [Gene - HGNC]
  • MARCOL:MARCO like [Gene - HGNC]
  • 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]
  • LOC129389385:MPRA-validated peak5514 silencer [Gene]
  • LOC129389386:MPRA-validated peak5518 silencer [Gene]
  • LOC129389387:MPRA-validated peak5520 silencer [Gene]
  • LOC129389388:MPRA-validated peak5521 silencer [Gene]
  • LOC129389389:MPRA-validated peak5522 silencer [Gene]
  • LOC129389390:MPRA-validated peak5524 silencer [Gene]
  • LOC129389391:MPRA-validated peak5525 silencer [Gene]
  • LOC129389392:MPRA-validated peak5528 silencer [Gene]
  • LOC129389393:MPRA-validated peak5531 silencer [Gene]
  • LOC132089164:Neanderthal introgressed variant-containing enhancer experimental_80964 [Gene]
  • LOC132089165:Neanderthal introgressed variant-containing enhancer experimental_80983 [Gene]
  • LOC132089166:Neanderthal introgressed variant-containing enhancer experimental_81045 [Gene]
  • LOC132089167:Neanderthal introgressed variant-containing enhancer experimental_81119 [Gene]
  • LOC132089168:Neanderthal introgressed variant-containing enhancer experimental_81180 [Gene]
  • LOC132089169:Neanderthal introgressed variant-containing enhancer experimental_81226 [Gene]
  • LOC132089170:Neanderthal introgressed variant-containing enhancer experimental_81266 [Gene]
  • LOC132089171:Neanderthal introgressed variant-containing enhancer experimental_81335 [Gene]
  • LOC132089172:Neanderthal introgressed variant-containing enhancer experimental_81447 [Gene]
  • LOC132089173:Neanderthal introgressed variant-containing enhancer experimental_81571 [Gene]
  • LOC132090733:Neanderthal introgressed variant-containing enhancer experimental_81576 [Gene]
  • LOC132090734:Neanderthal introgressed variant-containing enhancer experimental_81597 [Gene]
  • LOC132089174:Neanderthal introgressed variant-containing enhancer experimental_81701 [Gene]
  • LOC132089175:Neanderthal introgressed variant-containing enhancer experimental_81715 [Gene]
  • LOC132089176:Neanderthal introgressed variant-containing enhancer experimental_81725 [Gene]
  • LOC132089177:Neanderthal introgressed variant-containing enhancer experimental_81810 [Gene]
  • LOC132089178:Neanderthal introgressed variant-containing enhancer experimental_81818 [Gene]
  • LOC132089179:Neanderthal introgressed variant-containing enhancer experimental_81828 [Gene]
  • LOC132090735:Neanderthal introgressed variant-containing enhancer experimental_81891 [Gene]
  • LOC132089180:Neanderthal introgressed variant-containing enhancer experimental_81997 [Gene]
  • LOC132089181:Neanderthal introgressed variant-containing enhancer experimental_82030 [Gene]
  • LOC132090736:Neanderthal introgressed variant-containing enhancer experimental_82036 [Gene]
  • LOC132089182:Neanderthal introgressed variant-containing enhancer experimental_82052 [Gene]
  • LOC132089183:Neanderthal introgressed variant-containing enhancer experimental_82053 [Gene]
  • LOC132089184:Neanderthal introgressed variant-containing enhancer experimental_82075 [Gene]
  • LOC132089185:Neanderthal introgressed variant-containing enhancer experimental_82102 [Gene]
  • LOC132090737:Neanderthal introgressed variant-containing enhancer experimental_82107 [Gene]
  • LOC132090738:Neanderthal introgressed variant-containing enhancer experimental_82175 [Gene]
  • LOC132089186:Neanderthal introgressed variant-containing enhancer experimental_82187 [Gene]
  • NDFIP1:Nedd4 family interacting protein 1 [Gene - OMIM - HGNC]
  • 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]
  • LOC126807546:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148363540-148364739 [Gene]
  • LOC126807547:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:148452563-148453762 [Gene]
  • PLAC8L1:PLAC8 like 1 [Gene - HGNC]
  • POU4F3:POU class 4 homeobox 3 [Gene - OMIM - HGNC]
  • PPP2R2B-IT1:PPP2R2B intronic transcript 1 [Gene - HGNC]
  • PRELID2:PRELI domain containing 2 [Gene - OMIM - HGNC]
  • LOC127814297:RBM27-POU4F3 [Gene]
  • RELL2:RELT like 2 [Gene - OMIM - HGNC]
  • RBM27:RNA binding motif protein 27 [Gene - OMIM - HGNC]
  • ARHGAP26:Rho GTPase activating protein 26 [Gene - OMIM - HGNC]
  • SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
  • SH3RF2:SH3 domain containing ring finger 2 [Gene - OMIM - HGNC]
  • SH3TC2-DT:SH3TC2 divergent transcript [Gene - HGNC]
  • SPRY4-AS1:SPRY4 antisense RNA 1 [Gene - HGNC]
  • SPRY4-IT1:SPRY4 intronic transcript 1 [Gene - OMIM - HGNC]
  • STK32A-AS1:STK32A antisense RNA 1 [Gene - HGNC]
  • LOC121099708:Sharpr-MPRA regulatory region 10017 [Gene]
  • LOC112997565:Sharpr-MPRA regulatory region 10277 [Gene]
  • LOC114004390:Sharpr-MPRA regulatory region 10809 [Gene]
  • LOC123575581:Sharpr-MPRA regulatory region 12170 [Gene]
  • LOC123575588:Sharpr-MPRA regulatory region 12528 [Gene]
  • LOC123575589:Sharpr-MPRA regulatory region 12996 [Gene]
  • LOC121099705:Sharpr-MPRA regulatory region 13534 [Gene]
  • LOC123566731:Sharpr-MPRA regulatory region 13681 [Gene]
  • LOC112997563:Sharpr-MPRA regulatory region 13738 [Gene]
  • LOC121099709:Sharpr-MPRA regulatory region 14097 [Gene]
  • LOC123575583:Sharpr-MPRA regulatory region 14811 [Gene]
  • LOC121725217:Sharpr-MPRA regulatory region 1487 [Gene]
  • LOC123575584:Sharpr-MPRA regulatory region 15600 [Gene]
  • LOC123575585:Sharpr-MPRA regulatory region 15640 [Gene]
  • LOC112997566:Sharpr-MPRA regulatory region 2549 [Gene]
  • LOC123575586:Sharpr-MPRA regulatory region 332 [Gene]
  • LOC121099707:Sharpr-MPRA regulatory region 3450 [Gene]
  • LOC123566734:Sharpr-MPRA regulatory region 4900 [Gene]
  • LOC123566732:Sharpr-MPRA regulatory region 64 [Gene]
  • LOC123575587:Sharpr-MPRA regulatory region 6578 [Gene]
  • LOC123575582:Sharpr-MPRA regulatory region 7053 [Gene]
  • LOC112997564:Sharpr-MPRA regulatory region 738 [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]
  • TAF7:TATA-box binding protein associated factor 7 [Gene - OMIM - HGNC]
  • LOC110121171:VISTA enhancer hs1640 [Gene]
  • LOC110121202:VISTA enhancer hs1752 [Gene]
  • YIPF5:Yip1 domain family member 5 [Gene - OMIM - HGNC]
  • ABLIM3:actin binding LIM protein family member 3 [Gene - OMIM - HGNC]
  • AFAP1L1:actin filament associated protein 1 like 1 [Gene - OMIM - HGNC]
  • ADRB2:adrenoceptor beta 2 [Gene - OMIM - HGNC]
  • CARMN:cardiac mesoderm enhancer-associated non-coding RNA [Gene - HGNC]
  • CSNK1A1:casein kinase 1 alpha 1 [Gene - OMIM - HGNC]
  • C5orf46:chromosome 5 open reading frame 46 [Gene - HGNC]
  • DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
  • DPYSL3:dihydropyrimidinase like 3 [Gene - OMIM - HGNC]
  • FGF1:fibroblast growth factor 1 [Gene - OMIM - HGNC]
  • GNPDA1:glucosamine-6-phosphate deaminase 1 [Gene - OMIM - HGNC]
  • GRXCR2:glutaredoxin and cysteine rich domain containing 2 [Gene - OMIM - HGNC]
  • HMHB1:histocompatibility minor HB-1 [Gene - OMIM - HGNC]
  • HDAC3:histone deacetylase 3 [Gene - OMIM - HGNC]
  • IL17B:interleukin 17B [Gene - OMIM - HGNC]
  • JAKMIP2:janus kinase and microtubule interacting protein 2 [Gene - OMIM - HGNC]
  • LARS1:leucyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • LINC01844:long intergenic non-protein coding RNA 1844 [Gene - HGNC]
  • MIR143:microRNA 143 [Gene - OMIM - HGNC]
  • MIR145:microRNA 145 [Gene - OMIM - HGNC]
  • MIR5197:microRNA 5197 [Gene - HGNC]
  • MIR584:microRNA 584 [Gene - HGNC]
  • NR3C1:nuclear receptor subfamily 3 group C member 1 [Gene - OMIM - HGNC]
  • KCTD16:potassium channel tetramerization domain containing 16 [Gene - OMIM - HGNC]
  • PCYOX1L:prenylcysteine oxidase 1 like [Gene - HGNC]
  • LOC108660405:protein phosphatase 2 regulatory subunit Bbeta repeat instability region [Gene]
  • PPP2R2B:protein phosphatase 2 regulatory subunit Bbeta [Gene - OMIM - HGNC]
  • PCDH12:protocadherin 12 [Gene - OMIM - HGNC]
  • PCDH1:protocadherin 1 [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]
  • 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]
  • RNF14:ring finger protein 14 [Gene - OMIM - HGNC]
  • SCGB3A2:secretoglobin family 3A member 2 [Gene - OMIM - HGNC]
  • SPINK13:serine peptidase inhibitor Kazal type 13 [Gene - OMIM - HGNC]
  • SPINK14:serine peptidase inhibitor Kazal type 14 (putative) [Gene - HGNC]
  • SPINK1:serine peptidase inhibitor Kazal type 1 [Gene - OMIM - HGNC]
  • SPINK5:serine peptidase inhibitor Kazal type 5 [Gene - OMIM - HGNC]
  • SPINK6:serine peptidase inhibitor Kazal type 6 [Gene - OMIM - HGNC]
  • SPINK7:serine peptidase inhibitor Kazal type 7 [Gene - OMIM - HGNC]
  • SPINK9:serine peptidase inhibitor Kazal type 9 [Gene - OMIM - HGNC]
  • STK32A:serine/threonine kinase 32A [Gene - HGNC]
  • SLC25A2:solute carrier family 25 member 2 [Gene - OMIM - HGNC]
  • SPRY4:sprouty RTK signaling antagonist 4 [Gene - OMIM - HGNC]
  • TCERG1:transcription elongation regulator 1 [Gene - OMIM - HGNC]
  • CTB-99A3.1:uncharacterized CTB-99A3.1 [Gene]
Variant type:
copy number gain
Cytogenetic location:
5q31.3-32
Genomic location:
Preferred name:
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3
HGVS:
  • NC_000005.10:g.(?_141089988)_(149530678_?)dup
  • NC_000005.8:g.(?_140449756)_(148890434_?)dup
  • NC_000005.9:g.(?_140469572)_(148910241_?)dup
Links:
dbVar: nssv1603927; dbVar: nsv916974
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
SCV000180067ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		unknownclinical testing

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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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 4, SCV000180067.3

#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