GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2011
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:: RCV000141358.8

Allele description [Variation Report for GRCh38/hg38 19p13.3(chr19:275925-1892276)x3]

GRCh38/hg38 19p13.3(chr19:275925-1892276)x3

Genes:

ADAMTSL5:ADAMTS like 5 [Gene - HGNC]
APC2:APC regulator of WNT signaling pathway 2 [Gene - OMIM - HGNC]
ARID3A:AT-rich interaction domain 3A [Gene - OMIM - HGNC]
LOC130062816:ATAC-STARR-seq lymphoblastoid active region 13553 [Gene]
LOC130062817:ATAC-STARR-seq lymphoblastoid active region 13554 [Gene]
LOC130062821:ATAC-STARR-seq lymphoblastoid active region 13559 [Gene]
LOC130062822:ATAC-STARR-seq lymphoblastoid active region 13560 [Gene]
LOC130062823:ATAC-STARR-seq lymphoblastoid active region 13562 [Gene]
LOC130062824:ATAC-STARR-seq lymphoblastoid active region 13563 [Gene]
LOC130062825:ATAC-STARR-seq lymphoblastoid active region 13564 [Gene]
LOC130062831:ATAC-STARR-seq lymphoblastoid active region 13565 [Gene]
LOC130062832:ATAC-STARR-seq lymphoblastoid active region 13566 [Gene]
LOC130062835:ATAC-STARR-seq lymphoblastoid active region 13567 [Gene]
LOC130062837:ATAC-STARR-seq lymphoblastoid active region 13568 [Gene]
LOC130062838:ATAC-STARR-seq lymphoblastoid active region 13569 [Gene]
LOC130062839:ATAC-STARR-seq lymphoblastoid active region 13570 [Gene]
LOC130062845:ATAC-STARR-seq lymphoblastoid active region 13571 [Gene]
LOC130062849:ATAC-STARR-seq lymphoblastoid active region 13573 [Gene]
LOC130062861:ATAC-STARR-seq lymphoblastoid active region 13576 [Gene]
LOC130062874:ATAC-STARR-seq lymphoblastoid active region 13580 [Gene]
LOC130062877:ATAC-STARR-seq lymphoblastoid active region 13581 [Gene]
LOC130062879:ATAC-STARR-seq lymphoblastoid active region 13582 [Gene]
LOC130062880:ATAC-STARR-seq lymphoblastoid active region 13583 [Gene]
LOC130062881:ATAC-STARR-seq lymphoblastoid active region 13584 [Gene]
LOC130062882:ATAC-STARR-seq lymphoblastoid active region 13585 [Gene]
LOC130062883:ATAC-STARR-seq lymphoblastoid active region 13586 [Gene]
LOC130062884:ATAC-STARR-seq lymphoblastoid active region 13587 [Gene]
LOC130062885:ATAC-STARR-seq lymphoblastoid active region 13588 [Gene]
LOC130062889:ATAC-STARR-seq lymphoblastoid active region 13590 [Gene]
LOC130062890:ATAC-STARR-seq lymphoblastoid active region 13591 [Gene]
LOC130062891:ATAC-STARR-seq lymphoblastoid active region 13592 [Gene]
LOC130062893:ATAC-STARR-seq lymphoblastoid active region 13593 [Gene]
LOC130062896:ATAC-STARR-seq lymphoblastoid active region 13594 [Gene]
LOC130062897:ATAC-STARR-seq lymphoblastoid active region 13595 [Gene]
LOC130062898:ATAC-STARR-seq lymphoblastoid active region 13596 [Gene]
LOC130062899:ATAC-STARR-seq lymphoblastoid active region 13597 [Gene]
LOC130062901:ATAC-STARR-seq lymphoblastoid active region 13598 [Gene]
LOC130062902:ATAC-STARR-seq lymphoblastoid active region 13599 [Gene]
LOC130062905:ATAC-STARR-seq lymphoblastoid active region 13600 [Gene]
LOC130062918:ATAC-STARR-seq lymphoblastoid active region 13601 [Gene]
LOC130062919:ATAC-STARR-seq lymphoblastoid active region 13602 [Gene]
LOC130062922:ATAC-STARR-seq lymphoblastoid active region 13603 [Gene]
LOC130062923:ATAC-STARR-seq lymphoblastoid active region 13604 [Gene]
LOC130062924:ATAC-STARR-seq lymphoblastoid active region 13605 [Gene]
LOC130062925:ATAC-STARR-seq lymphoblastoid active region 13606 [Gene]
LOC130062926:ATAC-STARR-seq lymphoblastoid active region 13607 [Gene]
LOC130062934:ATAC-STARR-seq lymphoblastoid active region 13608 [Gene]
LOC130062935:ATAC-STARR-seq lymphoblastoid active region 13609 [Gene]
LOC130062938:ATAC-STARR-seq lymphoblastoid active region 13610 [Gene]
LOC130062943:ATAC-STARR-seq lymphoblastoid active region 13611 [Gene]
LOC130062944:ATAC-STARR-seq lymphoblastoid active region 13612 [Gene]
LOC130062960:ATAC-STARR-seq lymphoblastoid active region 13614 [Gene]
LOC130062972:ATAC-STARR-seq lymphoblastoid active region 13615 [Gene]
LOC130062975:ATAC-STARR-seq lymphoblastoid active region 13616 [Gene]
LOC130062976:ATAC-STARR-seq lymphoblastoid active region 13617 [Gene]
LOC130062977:ATAC-STARR-seq lymphoblastoid active region 13618 [Gene]
LOC130062978:ATAC-STARR-seq lymphoblastoid active region 13619 [Gene]
LOC130062979:ATAC-STARR-seq lymphoblastoid active region 13620 [Gene]
LOC130062980:ATAC-STARR-seq lymphoblastoid active region 13621 [Gene]
LOC130062984:ATAC-STARR-seq lymphoblastoid active region 13622 [Gene]
LOC130062985:ATAC-STARR-seq lymphoblastoid active region 13623 [Gene]
LOC130062987:ATAC-STARR-seq lymphoblastoid active region 13625 [Gene]
LOC130062988:ATAC-STARR-seq lymphoblastoid active region 13626 [Gene]
LOC130062990:ATAC-STARR-seq lymphoblastoid active region 13627 [Gene]
LOC130062991:ATAC-STARR-seq lymphoblastoid active region 13628 [Gene]
LOC130062992:ATAC-STARR-seq lymphoblastoid active region 13629 [Gene]
LOC130062994:ATAC-STARR-seq lymphoblastoid active region 13630 [Gene]
LOC130062813:ATAC-STARR-seq lymphoblastoid silent region 9597 [Gene]
LOC130062814:ATAC-STARR-seq lymphoblastoid silent region 9598 [Gene]
LOC130062815:ATAC-STARR-seq lymphoblastoid silent region 9599 [Gene]
LOC130062818:ATAC-STARR-seq lymphoblastoid silent region 9600 [Gene]
LOC130062819:ATAC-STARR-seq lymphoblastoid silent region 9602 [Gene]
LOC130062820:ATAC-STARR-seq lymphoblastoid silent region 9605 [Gene]
LOC130062826:ATAC-STARR-seq lymphoblastoid silent region 9606 [Gene]
LOC130062827:ATAC-STARR-seq lymphoblastoid silent region 9607 [Gene]
LOC130062828:ATAC-STARR-seq lymphoblastoid silent region 9608 [Gene]
LOC130062829:ATAC-STARR-seq lymphoblastoid silent region 9609 [Gene]
LOC130062830:ATAC-STARR-seq lymphoblastoid silent region 9610 [Gene]
LOC130062833:ATAC-STARR-seq lymphoblastoid silent region 9611 [Gene]
LOC130062834:ATAC-STARR-seq lymphoblastoid silent region 9612 [Gene]
LOC130062836:ATAC-STARR-seq lymphoblastoid silent region 9613 [Gene]
LOC130062840:ATAC-STARR-seq lymphoblastoid silent region 9614 [Gene]
LOC130062841:ATAC-STARR-seq lymphoblastoid silent region 9615 [Gene]
LOC130062842:ATAC-STARR-seq lymphoblastoid silent region 9616 [Gene]
LOC130062843:ATAC-STARR-seq lymphoblastoid silent region 9617 [Gene]
LOC130062844:ATAC-STARR-seq lymphoblastoid silent region 9619 [Gene]
LOC130062846:ATAC-STARR-seq lymphoblastoid silent region 9621 [Gene]
LOC130062847:ATAC-STARR-seq lymphoblastoid silent region 9625 [Gene]
LOC130062848:ATAC-STARR-seq lymphoblastoid silent region 9626 [Gene]
LOC130062850:ATAC-STARR-seq lymphoblastoid silent region 9627 [Gene]
LOC130062851:ATAC-STARR-seq lymphoblastoid silent region 9628 [Gene]
LOC130062852:ATAC-STARR-seq lymphoblastoid silent region 9629 [Gene]
LOC130062853:ATAC-STARR-seq lymphoblastoid silent region 9630 [Gene]
LOC130062854:ATAC-STARR-seq lymphoblastoid silent region 9633 [Gene]
LOC130062855:ATAC-STARR-seq lymphoblastoid silent region 9634 [Gene]
LOC130062856:ATAC-STARR-seq lymphoblastoid silent region 9635 [Gene]
LOC130062857:ATAC-STARR-seq lymphoblastoid silent region 9636 [Gene]
LOC130062858:ATAC-STARR-seq lymphoblastoid silent region 9640 [Gene]
LOC130062859:ATAC-STARR-seq lymphoblastoid silent region 9641 [Gene]
LOC130062860:ATAC-STARR-seq lymphoblastoid silent region 9642 [Gene]
LOC130062862:ATAC-STARR-seq lymphoblastoid silent region 9644 [Gene]
LOC130062863:ATAC-STARR-seq lymphoblastoid silent region 9647 [Gene]
LOC130062864:ATAC-STARR-seq lymphoblastoid silent region 9648 [Gene]
LOC130062865:ATAC-STARR-seq lymphoblastoid silent region 9649 [Gene]
LOC130062866:ATAC-STARR-seq lymphoblastoid silent region 9650 [Gene]
LOC130062867:ATAC-STARR-seq lymphoblastoid silent region 9651 [Gene]
LOC130062868:ATAC-STARR-seq lymphoblastoid silent region 9652 [Gene]
LOC130062869:ATAC-STARR-seq lymphoblastoid silent region 9654 [Gene]
LOC130062870:ATAC-STARR-seq lymphoblastoid silent region 9655 [Gene]
LOC130062871:ATAC-STARR-seq lymphoblastoid silent region 9656 [Gene]
LOC130062872:ATAC-STARR-seq lymphoblastoid silent region 9658 [Gene]
LOC130062873:ATAC-STARR-seq lymphoblastoid silent region 9659 [Gene]
LOC130062875:ATAC-STARR-seq lymphoblastoid silent region 9660 [Gene]
LOC130062876:ATAC-STARR-seq lymphoblastoid silent region 9661 [Gene]
LOC130062878:ATAC-STARR-seq lymphoblastoid silent region 9662 [Gene]
LOC130062886:ATAC-STARR-seq lymphoblastoid silent region 9664 [Gene]
LOC130062887:ATAC-STARR-seq lymphoblastoid silent region 9665 [Gene]
LOC130062888:ATAC-STARR-seq lymphoblastoid silent region 9666 [Gene]
LOC130062892:ATAC-STARR-seq lymphoblastoid silent region 9667 [Gene]
LOC130062894:ATAC-STARR-seq lymphoblastoid silent region 9669 [Gene]
LOC130062895:ATAC-STARR-seq lymphoblastoid silent region 9670 [Gene]
LOC130062900:ATAC-STARR-seq lymphoblastoid silent region 9671 [Gene]
LOC130062903:ATAC-STARR-seq lymphoblastoid silent region 9673 [Gene]
LOC130062904:ATAC-STARR-seq lymphoblastoid silent region 9674 [Gene]
LOC130062906:ATAC-STARR-seq lymphoblastoid silent region 9675 [Gene]
LOC130062907:ATAC-STARR-seq lymphoblastoid silent region 9677 [Gene]
LOC130062908:ATAC-STARR-seq lymphoblastoid silent region 9678 [Gene]
LOC130062909:ATAC-STARR-seq lymphoblastoid silent region 9679 [Gene]
LOC130062910:ATAC-STARR-seq lymphoblastoid silent region 9680 [Gene]
LOC130062911:ATAC-STARR-seq lymphoblastoid silent region 9681 [Gene]
LOC130062912:ATAC-STARR-seq lymphoblastoid silent region 9682 [Gene]
LOC130062913:ATAC-STARR-seq lymphoblastoid silent region 9683 [Gene]
LOC130062914:ATAC-STARR-seq lymphoblastoid silent region 9685 [Gene]
LOC130062915:ATAC-STARR-seq lymphoblastoid silent region 9686 [Gene]
LOC130062916:ATAC-STARR-seq lymphoblastoid silent region 9687 [Gene]
LOC130062917:ATAC-STARR-seq lymphoblastoid silent region 9688 [Gene]
LOC130062920:ATAC-STARR-seq lymphoblastoid silent region 9689 [Gene]
LOC130062921:ATAC-STARR-seq lymphoblastoid silent region 9690 [Gene]
LOC130062927:ATAC-STARR-seq lymphoblastoid silent region 9691 [Gene]
LOC130062928:ATAC-STARR-seq lymphoblastoid silent region 9692 [Gene]
LOC130062929:ATAC-STARR-seq lymphoblastoid silent region 9693 [Gene]
LOC130062930:ATAC-STARR-seq lymphoblastoid silent region 9694 [Gene]
LOC130062931:ATAC-STARR-seq lymphoblastoid silent region 9695 [Gene]
LOC130062932:ATAC-STARR-seq lymphoblastoid silent region 9697 [Gene]
LOC130062933:ATAC-STARR-seq lymphoblastoid silent region 9698 [Gene]
LOC130062936:ATAC-STARR-seq lymphoblastoid silent region 9699 [Gene]
LOC130062937:ATAC-STARR-seq lymphoblastoid silent region 9700 [Gene]
LOC130062939:ATAC-STARR-seq lymphoblastoid silent region 9701 [Gene]
LOC130062940:ATAC-STARR-seq lymphoblastoid silent region 9704 [Gene]
LOC130062941:ATAC-STARR-seq lymphoblastoid silent region 9705 [Gene]
LOC130062942:ATAC-STARR-seq lymphoblastoid silent region 9706 [Gene]
LOC130062945:ATAC-STARR-seq lymphoblastoid silent region 9707 [Gene]
LOC130062946:ATAC-STARR-seq lymphoblastoid silent region 9708 [Gene]
LOC130062947:ATAC-STARR-seq lymphoblastoid silent region 9709 [Gene]
LOC130062948:ATAC-STARR-seq lymphoblastoid silent region 9710 [Gene]
LOC130062949:ATAC-STARR-seq lymphoblastoid silent region 9711 [Gene]
LOC130062950:ATAC-STARR-seq lymphoblastoid silent region 9712 [Gene]
LOC130062951:ATAC-STARR-seq lymphoblastoid silent region 9713 [Gene]
LOC130062952:ATAC-STARR-seq lymphoblastoid silent region 9714 [Gene]
LOC130062953:ATAC-STARR-seq lymphoblastoid silent region 9715 [Gene]
LOC130062954:ATAC-STARR-seq lymphoblastoid silent region 9716 [Gene]
LOC130062955:ATAC-STARR-seq lymphoblastoid silent region 9717 [Gene]
LOC130062956:ATAC-STARR-seq lymphoblastoid silent region 9718 [Gene]
LOC130062957:ATAC-STARR-seq lymphoblastoid silent region 9719 [Gene]
LOC130062958:ATAC-STARR-seq lymphoblastoid silent region 9720 [Gene]
LOC130062959:ATAC-STARR-seq lymphoblastoid silent region 9721 [Gene]
LOC130062961:ATAC-STARR-seq lymphoblastoid silent region 9722 [Gene]
LOC130062962:ATAC-STARR-seq lymphoblastoid silent region 9723 [Gene]
LOC130062963:ATAC-STARR-seq lymphoblastoid silent region 9724 [Gene]
LOC130062964:ATAC-STARR-seq lymphoblastoid silent region 9726 [Gene]
LOC130062965:ATAC-STARR-seq lymphoblastoid silent region 9727 [Gene]
LOC130062966:ATAC-STARR-seq lymphoblastoid silent region 9728 [Gene]
LOC130062967:ATAC-STARR-seq lymphoblastoid silent region 9729 [Gene]
LOC130062968:ATAC-STARR-seq lymphoblastoid silent region 9730 [Gene]
LOC130062969:ATAC-STARR-seq lymphoblastoid silent region 9731 [Gene]
LOC130062970:ATAC-STARR-seq lymphoblastoid silent region 9732 [Gene]
LOC130062971:ATAC-STARR-seq lymphoblastoid silent region 9733 [Gene]
LOC130062973:ATAC-STARR-seq lymphoblastoid silent region 9734 [Gene]
LOC130062974:ATAC-STARR-seq lymphoblastoid silent region 9735 [Gene]
LOC130062981:ATAC-STARR-seq lymphoblastoid silent region 9738 [Gene]
LOC130062982:ATAC-STARR-seq lymphoblastoid silent region 9739 [Gene]
LOC130062983:ATAC-STARR-seq lymphoblastoid silent region 9740 [Gene]
LOC130062986:ATAC-STARR-seq lymphoblastoid silent region 9741 [Gene]
LOC130062989:ATAC-STARR-seq lymphoblastoid silent region 9745 [Gene]
LOC130062993:ATAC-STARR-seq lymphoblastoid silent region 9747 [Gene]
LOC130062995:ATAC-STARR-seq lymphoblastoid silent region 9748 [Gene]
LOC130062996:ATAC-STARR-seq lymphoblastoid silent region 9749 [Gene]
LOC130062997:ATAC-STARR-seq lymphoblastoid silent region 9751 [Gene]
ABCA7:ATP binding cassette subfamily A member 7 [Gene - OMIM - HGNC]
ATP5F1D:ATP synthase F1 subunit delta [Gene - OMIM - HGNC]
ATP8B3:ATPase phospholipid transporting 8B3 [Gene - OMIM - HGNC]
LOC126862836:BRD4-independent group 4 enhancer GRCh37_chr19:428871-430070 [Gene]
BSG-AS1:BSG antisense RNA 1 [Gene - HGNC]
C2CD4C:C2 calcium dependent domain containing 4C [Gene - OMIM - HGNC]
CBARP:CACN subunit beta associated regulatory protein [Gene - HGNC]
CBARP-DT:CBARP divergent transcript [Gene - HGNC]
LOC126862835:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:397986-399185 [Gene]
CIMAP1D:CIMAP1 family member D [Gene - HGNC]
CIRBP-AS1:CIRBP antisense RNA 1 [Gene - HGNC]
LOC116276494:CRISPRi-validated cis-regulatory element chr19.128 [Gene]
LOC116276495:CRISPRi-validated cis-regulatory element chr19.129 [Gene]
LOC116276496:CRISPRi-validated cis-regulatory element chr19.367 [Gene]
LOC116276493:CRISPRi-validated cis-regulatory element chr19.73 [Gene]
DAZAP1:DAZ associated protein 1 [Gene - OMIM - HGNC]
LOC111413035:HNF4 motif-containing MPRA enhancer 174 [Gene]
KISS1R:KISS1 receptor [Gene - OMIM - HGNC]
KLF16:KLF transcription factor 16 [Gene - OMIM - HGNC]
LOC128900001:KLF16 promoter region [Gene]
LOC112543441:KLF16-I enhancer [Gene]
MADCAM1-AS1:MADCAM1 antisense RNA 1 [Gene - HGNC]
MIER2:MIER family member 2 [Gene - OMIM - HGNC]
LOC129391010:MPRA-validated peak3203 silencer [Gene]
LOC129391011:MPRA-validated peak3205 silencer [Gene]
LOC129391012:MPRA-validated peak3207 silencer [Gene]
LOC129391013:MPRA-validated peak3208 silencer [Gene]
LOC129391014:MPRA-validated peak3210 silencer [Gene]
LOC129391015:MPRA-validated peak3211 silencer [Gene]
LOC129391016:MPRA-validated peak3217 silencer [Gene]
LOC129391017:MPRA-validated peak3219 silencer [Gene]
LOC129391018:MPRA-validated peak3222 silencer [Gene]
LOC129391019:MPRA-validated peak3223 silencer [Gene]
LOC129391020:MPRA-validated peak3225 silencer [Gene]
LOC129391021:MPRA-validated peak3226 silencer [Gene]
NDUFS7:NADH:ubiquinone oxidoreductase core subunit S7 [Gene - OMIM - HGNC]
LOC132090902:Neanderthal introgressed variant-containing enhancer experimental_50734 [Gene]
LOC126862837:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1177383-1178582 [Gene]
LOC126862838:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:1747113-1748312 [Gene]
LOC108281123:PLPP2 intron CAGE-defined low expression enhancer [Gene]
PWWP3A:PWWP domain containing 3A, DNA repair factor [Gene - HGNC]
R3HDM4:R3H domain containing 4 [Gene - HGNC]
REXO1:RNA exonuclease 1 homolog [Gene - OMIM - HGNC]
POLR2E:RNA polymerase II, I and III subunit E [Gene - OMIM - HGNC]
POLRMT:RNA polymerase mitochondrial [Gene - OMIM - HGNC]
RNU6-2:RNA, U6 small nuclear 2 [Gene - HGNC]
RNU6-9:RNA, U6 small nuclear 9 [Gene - HGNC]
ARHGAP45:Rho GTPase activating protein 45 [Gene - OMIM - HGNC]
LOC108254692:SBNO2 intron CAGE-defined low expression enhancer [Gene]
SHC2:SHC adaptor protein 2 [Gene - OMIM - HGNC]
LOC121852971:Sharpr-MPRA regulatory region 10458 [Gene]
LOC125371446:Sharpr-MPRA regulatory region 12578 [Gene]
LOC125371447:Sharpr-MPRA regulatory region 13808 [Gene]
LOC121627844:Sharpr-MPRA regulatory region 14028 [Gene]
LOC125371448:Sharpr-MPRA regulatory region 1835 [Gene]
LOC113939966:Sharpr-MPRA regulatory region 2129 [Gene]
LOC121627845:Sharpr-MPRA regulatory region 3984 [Gene]
LOC125371444:Sharpr-MPRA regulatory region 4509 [Gene]
LOC112543439:Sharpr-MPRA regulatory region 734 [Gene]
LOC112543440:Sharpr-MPRA regulatory region 8340 [Gene]
LOC121627842:Sharpr-MPRA regulatory region 9324 [Gene]
LOC121627843:Sharpr-MPRA regulatory region 9448 [Gene]
WDR18:WD repeat domain 18 [Gene - OMIM - HGNC]
ABHD17A:abhydrolase domain containing 17A, depalmitoylase [Gene - OMIM - HGNC]
AZU1:azurocidin 1 [Gene - OMIM - HGNC]
BSG:basigin (Ok blood group) [Gene - OMIM - HGNC]
CNN2:calponin 2 [Gene - OMIM - HGNC]
CDC34:cell division cycle 34, ubiqiutin conjugating enzyme [Gene - OMIM - HGNC]
C19orf25:chromosome 19 open reading frame 25 [Gene - HGNC]
CIRBP:cold inducible RNA binding protein [Gene - OMIM - HGNC]
CFD:complement factor D [Gene - OMIM - HGNC]
ELANE:elastase, neutrophil expressed [Gene - OMIM - HGNC]
EFNA2:ephrin A2 [Gene - OMIM - HGNC]
FAM174C:family with sequence similarity 174 member C [Gene - HGNC]
FGF22:fibroblast growth factor 22 [Gene - OMIM - HGNC]
FSTL3:follistatin like 3 [Gene - OMIM - HGNC]
GRIN3B:glutamate ionotropic receptor NMDA type subunit 3B [Gene - OMIM - HGNC]
GPX4:glutathione peroxidase 4 [Gene - OMIM - HGNC]
GZMM:granzyme M [Gene - OMIM - HGNC]
GAMT:guanidinoacetate N-methyltransferase [Gene - OMIM - HGNC]
HCN2:hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2 [Gene - OMIM - HGNC]
MED16:mediator complex subunit 16 [Gene - OMIM - HGNC]
MBD3:methyl-CpG binding domain protein 3 [Gene - OMIM - HGNC]
MEX3D:mex-3 RNA binding family member D [Gene - OMIM - HGNC]
MIR1909:microRNA 1909 [Gene - OMIM - HGNC]
MIR3187:microRNA 3187 [Gene - HGNC]
MIR4745:microRNA 4745 [Gene - HGNC]
MIDN:midnolin [Gene - OMIM - HGNC]
MISP:mitotic spindle positioning [Gene - OMIM - HGNC]
MADCAM1:mucosal vascular addressin cell adhesion molecule 1 [Gene - OMIM - HGNC]
ONECUT3:one cut homeobox 3 [Gene - OMIM - HGNC]
PALM:paralemmin [Gene - OMIM - HGNC]
PLPP2:phospholipid phosphatase 2 [Gene - OMIM - HGNC]
PLPPR3:phospholipid phosphatase related 3 [Gene - OMIM - HGNC]
PLK5:polo like kinase 5 (inactive) [Gene - HGNC]
PTBP1:polypyrimidine tract binding protein 1 [Gene - OMIM - HGNC]
PCSK4:proprotein convertase subtilisin/kexin type 4 [Gene - OMIM - HGNC]
PRTN3:proteinase 3 [Gene - OMIM - HGNC]
REEP6:receptor accessory protein 6 [Gene - OMIM - HGNC]
RPS15:ribosomal protein S15 [Gene - OMIM - HGNC]
RNF126:ring finger protein 126 [Gene - OMIM - HGNC]
PRSS57:serine protease 57 [Gene - HGNC]
LOC110006317:serine/threonine kinase 11 intron 1 Alu-mediated recombination region [Gene]
LOC110006318:serine/threonine kinase 11 intron 3 Alu-mediated recombination region [Gene]
STK11:serine/threonine kinase 11 [Gene - OMIM - HGNC]
SPMAP2:sperm microtubule associated protein 2 [Gene - OMIM - HGNC]
SBNO2:strawberry notch homolog 2 [Gene - OMIM - HGNC]
TRN-GTT2-6:tRNA-Asn (anticodon GTT) 2-6 [Gene - HGNC]
TRF-GAA1-6:tRNA-Phe (anticodon GAA) 1-6 [Gene - HGNC]
TCF3:transcription factor 3 [Gene - OMIM - HGNC]
TMEM259:transmembrane protein 259 [Gene - OMIM - HGNC]
TPGS1:tubulin polyglutamylase complex subunit 1 [Gene - OMIM - HGNC]
UQCR11:ubiquinol-cytochrome c reductase, complex III subunit XI [Gene - OMIM - HGNC]
LOC100288123:uncharacterized LOC100288123 [Gene]
LOC101928450:uncharacterized LOC101928450 [Gene]

Variant type:

copy number gain

Cytogenetic location:

19p13.3

Genomic location:

Preferred name:

GRCh38/hg38 19p13.3(chr19:275925-1892276)x3

HGVS:

NC_000019.10:g.(?_275925)_(1892276_?)dup
NC_000019.9:g.(?_275925)_(1892275_?)dup

Links:

dbVar: nssv3396512; dbVar: nsv993460

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000182267	ISCA Site 6 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Apr 30, 2011)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000182267

ISCA Site 6

See additional submitters

no assertion criteria provided

Pathogenic
(Apr 30, 2011)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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 6, SCV000182267.3

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

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

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine