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GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)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:
RCV000052913.4

Allele description [Variation Report for GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3]

GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3

Genes:
  • LOC130064771:ATAC-STARR-seq lymphoblastoid active region 14846 [Gene]
  • LOC130064774:ATAC-STARR-seq lymphoblastoid active region 14847 [Gene]
  • LOC130064782:ATAC-STARR-seq lymphoblastoid active region 14849 [Gene]
  • LOC130064783:ATAC-STARR-seq lymphoblastoid active region 14850 [Gene]
  • LOC130064784:ATAC-STARR-seq lymphoblastoid active region 14851 [Gene]
  • LOC130064788:ATAC-STARR-seq lymphoblastoid active region 14852 [Gene]
  • LOC130064790:ATAC-STARR-seq lymphoblastoid active region 14853 [Gene]
  • LOC130064791:ATAC-STARR-seq lymphoblastoid active region 14854 [Gene]
  • LOC130064792:ATAC-STARR-seq lymphoblastoid active region 14855 [Gene]
  • LOC130064793:ATAC-STARR-seq lymphoblastoid active region 14856 [Gene]
  • LOC130064794:ATAC-STARR-seq lymphoblastoid active region 14858 [Gene]
  • LOC130064795:ATAC-STARR-seq lymphoblastoid active region 14860 [Gene]
  • LOC130064800:ATAC-STARR-seq lymphoblastoid active region 14861 [Gene]
  • LOC130064802:ATAC-STARR-seq lymphoblastoid active region 14863 [Gene]
  • LOC130064803:ATAC-STARR-seq lymphoblastoid active region 14864 [Gene]
  • LOC130064810:ATAC-STARR-seq lymphoblastoid active region 14865 [Gene]
  • LOC130064811:ATAC-STARR-seq lymphoblastoid active region 14866 [Gene]
  • LOC130064813:ATAC-STARR-seq lymphoblastoid active region 14867 [Gene]
  • LOC130064814:ATAC-STARR-seq lymphoblastoid active region 14868 [Gene]
  • LOC130064817:ATAC-STARR-seq lymphoblastoid active region 14869 [Gene]
  • LOC130064829:ATAC-STARR-seq lymphoblastoid active region 14870 [Gene]
  • LOC130064832:ATAC-STARR-seq lymphoblastoid active region 14871 [Gene]
  • LOC130064835:ATAC-STARR-seq lymphoblastoid active region 14872 [Gene]
  • LOC130064836:ATAC-STARR-seq lymphoblastoid active region 14873 [Gene]
  • LOC130064837:ATAC-STARR-seq lymphoblastoid active region 14874 [Gene]
  • LOC130064838:ATAC-STARR-seq lymphoblastoid active region 14875 [Gene]
  • LOC130064839:ATAC-STARR-seq lymphoblastoid active region 14876 [Gene]
  • LOC130064840:ATAC-STARR-seq lymphoblastoid active region 14877 [Gene]
  • LOC130064841:ATAC-STARR-seq lymphoblastoid active region 14878 [Gene]
  • LOC130064843:ATAC-STARR-seq lymphoblastoid active region 14879 [Gene]
  • LOC130064844:ATAC-STARR-seq lymphoblastoid active region 14880 [Gene]
  • LOC130064845:ATAC-STARR-seq lymphoblastoid active region 14881 [Gene]
  • LOC130064846:ATAC-STARR-seq lymphoblastoid active region 14882 [Gene]
  • LOC130064847:ATAC-STARR-seq lymphoblastoid active region 14883 [Gene]
  • LOC130064848:ATAC-STARR-seq lymphoblastoid active region 14884 [Gene]
  • LOC130064849:ATAC-STARR-seq lymphoblastoid active region 14885 [Gene]
  • LOC130064850:ATAC-STARR-seq lymphoblastoid active region 14888 [Gene]
  • LOC130064851:ATAC-STARR-seq lymphoblastoid active region 14889 [Gene]
  • LOC130064852:ATAC-STARR-seq lymphoblastoid active region 14890 [Gene]
  • LOC130064853:ATAC-STARR-seq lymphoblastoid active region 14891 [Gene]
  • LOC130064857:ATAC-STARR-seq lymphoblastoid active region 14894 [Gene]
  • LOC130064858:ATAC-STARR-seq lymphoblastoid active region 14895 [Gene]
  • LOC130064859:ATAC-STARR-seq lymphoblastoid active region 14896 [Gene]
  • LOC130064866:ATAC-STARR-seq lymphoblastoid active region 14898 [Gene]
  • LOC130064867:ATAC-STARR-seq lymphoblastoid active region 14902 [Gene]
  • LOC130064868:ATAC-STARR-seq lymphoblastoid active region 14903 [Gene]
  • LOC130064876:ATAC-STARR-seq lymphoblastoid active region 14904 [Gene]
  • LOC130064881:ATAC-STARR-seq lymphoblastoid active region 14906 [Gene]
  • LOC130064882:ATAC-STARR-seq lymphoblastoid active region 14907 [Gene]
  • LOC130064883:ATAC-STARR-seq lymphoblastoid active region 14908 [Gene]
  • LOC130064886:ATAC-STARR-seq lymphoblastoid active region 14913 [Gene]
  • LOC130064887:ATAC-STARR-seq lymphoblastoid active region 14914 [Gene]
  • LOC130064888:ATAC-STARR-seq lymphoblastoid active region 14915 [Gene]
  • LOC130064889:ATAC-STARR-seq lymphoblastoid active region 14916 [Gene]
  • LOC130064892:ATAC-STARR-seq lymphoblastoid active region 14919 [Gene]
  • LOC130064893:ATAC-STARR-seq lymphoblastoid active region 14920 [Gene]
  • LOC130064894:ATAC-STARR-seq lymphoblastoid active region 14921 [Gene]
  • LOC130064895:ATAC-STARR-seq lymphoblastoid active region 14922 [Gene]
  • LOC130064897:ATAC-STARR-seq lymphoblastoid active region 14923 [Gene]
  • LOC130064898:ATAC-STARR-seq lymphoblastoid active region 14924 [Gene]
  • LOC130064768:ATAC-STARR-seq lymphoblastoid silent region 10820 [Gene]
  • LOC130064769:ATAC-STARR-seq lymphoblastoid silent region 10821 [Gene]
  • LOC130064770:ATAC-STARR-seq lymphoblastoid silent region 10822 [Gene]
  • LOC130064772:ATAC-STARR-seq lymphoblastoid silent region 10823 [Gene]
  • LOC130064773:ATAC-STARR-seq lymphoblastoid silent region 10824 [Gene]
  • LOC130064775:ATAC-STARR-seq lymphoblastoid silent region 10825 [Gene]
  • LOC130064776:ATAC-STARR-seq lymphoblastoid silent region 10826 [Gene]
  • LOC130064777:ATAC-STARR-seq lymphoblastoid silent region 10827 [Gene]
  • LOC130064778:ATAC-STARR-seq lymphoblastoid silent region 10828 [Gene]
  • LOC130064779:ATAC-STARR-seq lymphoblastoid silent region 10829 [Gene]
  • LOC130064780:ATAC-STARR-seq lymphoblastoid silent region 10830 [Gene]
  • LOC130064781:ATAC-STARR-seq lymphoblastoid silent region 10831 [Gene]
  • LOC130064785:ATAC-STARR-seq lymphoblastoid silent region 10833 [Gene]
  • LOC130064786:ATAC-STARR-seq lymphoblastoid silent region 10834 [Gene]
  • LOC130064787:ATAC-STARR-seq lymphoblastoid silent region 10835 [Gene]
  • LOC130064789:ATAC-STARR-seq lymphoblastoid silent region 10836 [Gene]
  • LOC130064796:ATAC-STARR-seq lymphoblastoid silent region 10840 [Gene]
  • LOC130064797:ATAC-STARR-seq lymphoblastoid silent region 10841 [Gene]
  • LOC130064798:ATAC-STARR-seq lymphoblastoid silent region 10842 [Gene]
  • LOC130064799:ATAC-STARR-seq lymphoblastoid silent region 10843 [Gene]
  • LOC130064801:ATAC-STARR-seq lymphoblastoid silent region 10844 [Gene]
  • LOC130064804:ATAC-STARR-seq lymphoblastoid silent region 10848 [Gene]
  • LOC130064805:ATAC-STARR-seq lymphoblastoid silent region 10849 [Gene]
  • LOC130064806:ATAC-STARR-seq lymphoblastoid silent region 10850 [Gene]
  • LOC130064807:ATAC-STARR-seq lymphoblastoid silent region 10851 [Gene]
  • LOC130064808:ATAC-STARR-seq lymphoblastoid silent region 10852 [Gene]
  • LOC130064809:ATAC-STARR-seq lymphoblastoid silent region 10853 [Gene]
  • LOC130064812:ATAC-STARR-seq lymphoblastoid silent region 10855 [Gene]
  • LOC130064815:ATAC-STARR-seq lymphoblastoid silent region 10856 [Gene]
  • LOC130064816:ATAC-STARR-seq lymphoblastoid silent region 10857 [Gene]
  • LOC130064818:ATAC-STARR-seq lymphoblastoid silent region 10858 [Gene]
  • LOC130064819:ATAC-STARR-seq lymphoblastoid silent region 10859 [Gene]
  • LOC130064820:ATAC-STARR-seq lymphoblastoid silent region 10860 [Gene]
  • LOC130064821:ATAC-STARR-seq lymphoblastoid silent region 10861 [Gene]
  • LOC130064822:ATAC-STARR-seq lymphoblastoid silent region 10862 [Gene]
  • LOC130064823:ATAC-STARR-seq lymphoblastoid silent region 10863 [Gene]
  • LOC130064824:ATAC-STARR-seq lymphoblastoid silent region 10864 [Gene]
  • LOC130064825:ATAC-STARR-seq lymphoblastoid silent region 10865 [Gene]
  • LOC130064826:ATAC-STARR-seq lymphoblastoid silent region 10866 [Gene]
  • LOC130064827:ATAC-STARR-seq lymphoblastoid silent region 10867 [Gene]
  • LOC130064828:ATAC-STARR-seq lymphoblastoid silent region 10868 [Gene]
  • LOC130064830:ATAC-STARR-seq lymphoblastoid silent region 10869 [Gene]
  • LOC130064831:ATAC-STARR-seq lymphoblastoid silent region 10870 [Gene]
  • LOC130064833:ATAC-STARR-seq lymphoblastoid silent region 10871 [Gene]
  • LOC130064834:ATAC-STARR-seq lymphoblastoid silent region 10874 [Gene]
  • LOC130064842:ATAC-STARR-seq lymphoblastoid silent region 10875 [Gene]
  • LOC130064854:ATAC-STARR-seq lymphoblastoid silent region 10878 [Gene]
  • LOC130064855:ATAC-STARR-seq lymphoblastoid silent region 10879 [Gene]
  • LOC130064856:ATAC-STARR-seq lymphoblastoid silent region 10880 [Gene]
  • LOC130064860:ATAC-STARR-seq lymphoblastoid silent region 10882 [Gene]
  • LOC130064861:ATAC-STARR-seq lymphoblastoid silent region 10883 [Gene]
  • LOC130064862:ATAC-STARR-seq lymphoblastoid silent region 10884 [Gene]
  • LOC130064863:ATAC-STARR-seq lymphoblastoid silent region 10886 [Gene]
  • LOC130064864:ATAC-STARR-seq lymphoblastoid silent region 10887 [Gene]
  • LOC130064865:ATAC-STARR-seq lymphoblastoid silent region 10888 [Gene]
  • LOC130064869:ATAC-STARR-seq lymphoblastoid silent region 10889 [Gene]
  • LOC130064870:ATAC-STARR-seq lymphoblastoid silent region 10890 [Gene]
  • LOC130064871:ATAC-STARR-seq lymphoblastoid silent region 10891 [Gene]
  • LOC130064872:ATAC-STARR-seq lymphoblastoid silent region 10892 [Gene]
  • LOC130064873:ATAC-STARR-seq lymphoblastoid silent region 10893 [Gene]
  • LOC130064874:ATAC-STARR-seq lymphoblastoid silent region 10894 [Gene]
  • LOC130064875:ATAC-STARR-seq lymphoblastoid silent region 10895 [Gene]
  • LOC130064877:ATAC-STARR-seq lymphoblastoid silent region 10896 [Gene]
  • LOC130064878:ATAC-STARR-seq lymphoblastoid silent region 10897 [Gene]
  • LOC130064879:ATAC-STARR-seq lymphoblastoid silent region 10899 [Gene]
  • LOC130064880:ATAC-STARR-seq lymphoblastoid silent region 10901 [Gene]
  • LOC130064884:ATAC-STARR-seq lymphoblastoid silent region 10904 [Gene]
  • LOC130064885:ATAC-STARR-seq lymphoblastoid silent region 10905 [Gene]
  • LOC130064890:ATAC-STARR-seq lymphoblastoid silent region 10906 [Gene]
  • LOC130064891:ATAC-STARR-seq lymphoblastoid silent region 10909 [Gene]
  • LOC130064896:ATAC-STARR-seq lymphoblastoid silent region 10910 [Gene]
  • BAX:BCL2 associated X, apoptosis regulator [Gene - OMIM - HGNC]
  • BBC3:BCL2 binding component 3 [Gene - OMIM - HGNC]
  • BICRA-AS2:BICRA antisense RNA 2 [Gene - HGNC]
  • BICRA:BRD4 interacting chromatin remodeling complex associated protein [Gene - OMIM - HGNC]
  • LOC126862919:BRD4-independent group 4 enhancer GRCh37_chr19:47466169-47467368 [Gene]
  • CARD8-AS1:CARD8 antisense RNA 1 [Gene - HGNC]
  • LOC126862917:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:47233845-47235044 [Gene]
  • LOC126862920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:48522004-48523203 [Gene]
  • LOC119369034:CRISPRi-FlowFISH-validated BAX and NUCB1 regulatory element [Gene]
  • LOC119369030:CRISPRi-FlowFISH-validated BAX, FTL and NUCB1 regulatory elements [Gene]
  • LOC119369027:CRISPRi-FlowFISH-validated BCAT2 regulatory element [Gene]
  • LOC119369032:CRISPRi-FlowFISH-validated FTL and NUCB1 regulatory element 1 [Gene]
  • LOC119369033:CRISPRi-FlowFISH-validated FTL and NUCB1 regulatory element 2 [Gene]
  • LOC119369029:CRISPRi-FlowFISH-validated FTL and NUCB1 regulatory element [Gene]
  • LOC119369028:CRISPRi-FlowFISH-validated FTL regulatory element 1 [Gene]
  • LOC119369035:CRISPRi-FlowFISH-validated FTL regulatory element 2 [Gene]
  • LOC119369036:CRISPRi-FlowFISH-validated FTL regulatory element 3 [Gene]
  • LOC119369037:CRISPRi-FlowFISH-validated FTL regulatory element 4 [Gene]
  • LOC117125599:CRISPRi-FlowFISH-validated FUT1 regulatory element 1 [Gene]
  • LOC117125600:CRISPRi-FlowFISH-validated FUT1 regulatory element 2 [Gene]
  • LOC117125601:CRISPRi-FlowFISH-validated FUT1 regulatory element 3 [Gene]
  • LOC117125602:CRISPRi-FlowFISH-validated FUT1 regulatory element 4 [Gene]
  • LOC116286190:CRISPRi-validated cis-regulatory element chr19.5064 [Gene]
  • LOC116286191:CRISPRi-validated cis-regulatory element chr19.5070 [Gene]
  • LOC116286192:CRISPRi-validated cis-regulatory element chr19.5328 [Gene]
  • DBP:D-box binding PAR bZIP transcription factor [Gene - OMIM - HGNC]
  • DACT3-AS1:DACT3 antisense RNA 1 [Gene - HGNC]
  • DHX34:DExH-box helicase 34 [Gene - OMIM - HGNC]
  • LIG1:DNA ligase 1 [Gene - OMIM - HGNC]
  • EHD2:EH domain containing 2 [Gene - OMIM - HGNC]
  • LOC109279247:FGF21/FUT1 promoter region [Gene]
  • INAFM1:InaF motif containing 1 [Gene - HGNC]
  • KDELR1:KDEL endoplasmic reticulum protein retention receptor 1 [Gene - OMIM - HGNC]
  • LOC126862918:MED14-independent group 3 enhancer GRCh37_chr19:47287225-47288424 [Gene]
  • MAMSTR:MEF2 activating motif and SAP domain containing transcriptional regulator [Gene - OMIM - HGNC]
  • LOC129391129:MPRA-validated peak3531 silencer [Gene]
  • LOC129391130:MPRA-validated peak3532 silencer [Gene]
  • LOC129391131:MPRA-validated peak3539 silencer [Gene]
  • LOC129391132:MPRA-validated peak3541 silencer [Gene]
  • MEIS3:Meis homeobox 3 [Gene - OMIM - HGNC]
  • NAPA-AS1:NAPA antisense RNA 1 [Gene - HGNC]
  • NOP53-AS1:NOP53 antisense RNA 1 [Gene - HGNC]
  • NOP53:NOP53 ribosome biogenesis factor [Gene - OMIM - HGNC]
  • NAPA:NSF attachment protein alpha [Gene - OMIM - HGNC]
  • NUCB1-AS1:NUCB1 antisense RNA 1 [Gene - HGNC]
  • PLA2G4C-AS1:PLA2G4C antisense RNA 1 [Gene - HGNC]
  • RASIP1:Ras interacting protein 1 [Gene - OMIM - HGNC]
  • ARHGAP35:Rho GTPase activating protein 35 [Gene - OMIM - HGNC]
  • RUVBL2:RuvB like AAA ATPase 2 [Gene - OMIM - HGNC]
  • SAE1:SUMO1 activating enzyme subunit 1 [Gene - OMIM - HGNC]
  • LOC112552166:Sharpr-MPRA regulatory region 10427 [Gene]
  • LOC112552167:Sharpr-MPRA regulatory region 10552 [Gene]
  • LOC121627884:Sharpr-MPRA regulatory region 11839 [Gene]
  • LOC112552165:Sharpr-MPRA regulatory region 12080 [Gene]
  • LOC112552169:Sharpr-MPRA regulatory region 12315 [Gene]
  • LOC112552171:Sharpr-MPRA regulatory region 12688 [Gene]
  • LOC125371539:Sharpr-MPRA regulatory region 13246 [Gene]
  • LOC125371540:Sharpr-MPRA regulatory region 15394 [Gene]
  • LOC121627885:Sharpr-MPRA regulatory region 164 [Gene]
  • LOC121852990:Sharpr-MPRA regulatory region 169 [Gene]
  • LOC112552172:Sharpr-MPRA regulatory region 1809 [Gene]
  • LOC125371542:Sharpr-MPRA regulatory region 2382 [Gene]
  • LOC125371536:Sharpr-MPRA regulatory region 2893 [Gene]
  • LOC125371543:Sharpr-MPRA regulatory region 3566 [Gene]
  • LOC125371538:Sharpr-MPRA regulatory region 3844 [Gene]
  • LOC125371544:Sharpr-MPRA regulatory region 4424 [Gene]
  • LOC125371537:Sharpr-MPRA regulatory region 4678 [Gene]
  • LOC121627882:Sharpr-MPRA regulatory region 6080 [Gene]
  • LOC112552173:Sharpr-MPRA regulatory region 732 [Gene]
  • LOC112552168:Sharpr-MPRA regulatory region 73 [Gene]
  • LOC121852991:Sharpr-MPRA regulatory region 8297 [Gene]
  • LOC112552170:Sharpr-MPRA regulatory region 8588 [Gene]
  • LOC112552164:Sharpr-MPRA regulatory region 8906 [Gene]
  • LOC121627883:Sharpr-MPRA regulatory region 9389 [Gene]
  • LOC112552162:Sharpr-MPRA regulatory region 93 [Gene]
  • LOC111828494:Sharpr-MPRA regulatory regions 10218 and 12364 [Gene]
  • TULP2:TUB like protein 2 [Gene - OMIM - HGNC]
  • AP2S1:adaptor related protein complex 2 subunit sigma 1 [Gene - OMIM - HGNC]
  • BSPH1:binder of sperm protein homolog 1 [Gene - OMIM - HGNC]
  • BCAT2:branched chain amino acid transaminase 2 [Gene - OMIM - HGNC]
  • CABP5:calcium binding protein 5 [Gene - OMIM - HGNC]
  • CA11:carbonic anhydrase 11 [Gene - OMIM - HGNC]
  • CARD8:caspase recruitment domain family member 8 [Gene - OMIM - HGNC]
  • CGB1:chorionic gonadotropin subunit beta 1 [Gene - OMIM - HGNC]
  • CGB2:chorionic gonadotropin subunit beta 2 [Gene - OMIM - HGNC]
  • CGB3:chorionic gonadotropin subunit beta 3 [Gene - OMIM - HGNC]
  • CGB5:chorionic gonadotropin subunit beta 5 [Gene - OMIM - HGNC]
  • CGB8:chorionic gonadotropin subunit beta 8 [Gene - OMIM - HGNC]
  • CCDC9:coiled-coil domain containing 9 [Gene - HGNC]
  • C5AR1:complement C5a receptor 1 [Gene - OMIM - HGNC]
  • C5AR2:complement C5a receptor 2 [Gene - OMIM - HGNC]
  • CRX:cone-rod homeobox [Gene - OMIM - HGNC]
  • CYTH2:cytohesin 2 [Gene - OMIM - HGNC]
  • DHDH:dihydrodiol dehydrogenase [Gene - OMIM - HGNC]
  • DACT3:dishevelled binding antagonist of beta catenin 3 [Gene - OMIM - HGNC]
  • ELSPBP1:epididymal sperm binding protein 1 [Gene - OMIM - HGNC]
  • EMP3:epithelial membrane protein 3 (MAM blood group) [Gene - OMIM - HGNC]
  • FAM83E:family with sequence similarity 83 member E [Gene - HGNC]
  • FTL:ferritin light chain [Gene - OMIM - HGNC]
  • FGF21:fibroblast growth factor 21 [Gene - OMIM - HGNC]
  • FUT1:fucosyltransferase 1 (H blood group) [Gene - OMIM - HGNC]
  • FUT2:fucosyltransferase 2 (H blood group) [Gene - OMIM - HGNC]
  • FKRP:fukutin related protein [Gene - OMIM - HGNC]
  • GRIN2D:glutamate ionotropic receptor NMDA type subunit 2D [Gene - OMIM - HGNC]
  • GRWD1:glutamate rich WD repeat containing 1 [Gene - OMIM - HGNC]
  • GYS1:glycogen synthase 1 [Gene - OMIM - HGNC]
  • HSD17B14:hydroxysteroid 17-beta dehydrogenase 14 [Gene - OMIM - HGNC]
  • IZUMO1:izumo sperm-oocyte fusion 1 [Gene - OMIM - HGNC]
  • KPTN:kaptin, actin binding protein [Gene - OMIM - HGNC]
  • LMTK3:lemur tyrosine kinase 3 [Gene - OMIM - HGNC]
  • LINC01595:long intergenic non-protein coding RNA 1595 [Gene - HGNC]
  • LHB:luteinizing hormone subunit beta [Gene - OMIM - HGNC]
  • MIR3190:microRNA 3190 [Gene - HGNC]
  • MIR3191:microRNA 3191 [Gene - HGNC]
  • MIR320E:microRNA 320e [Gene - HGNC]
  • MIR6798:microRNA 6798 [Gene - HGNC]
  • NTN5:netrin 5 [Gene - HGNC]
  • NPAS1:neuronal PAS domain protein 1 [Gene - OMIM - HGNC]
  • NUCB1:nucleobindin 1 [Gene - OMIM - HGNC]
  • ODAD1:outer dynein arm docking complex subunit 1 [Gene - OMIM - HGNC]
  • PLA2G4C:phospholipase A2 group IVC [Gene - OMIM - HGNC]
  • PLEKHA4:pleckstrin homology domain containing A4 [Gene - OMIM - HGNC]
  • KCNJ14:potassium inwardly rectifying channel subfamily J member 14 [Gene - OMIM - HGNC]
  • PRKD2:protein kinase D2 [Gene - OMIM - HGNC]
  • PPP1R15A:protein phosphatase 1 regulatory subunit 15A [Gene - OMIM - HGNC]
  • RPL18:ribosomal protein L18 [Gene - OMIM - HGNC]
  • SELENOW:selenoprotein W [Gene - OMIM - HGNC]
  • LOC111721713:skeletal muscle cis-regulatory module in GYS1 intron [Gene]
  • SNAR-A12:small NF90 (ILF3) associated RNA A12 [Gene - HGNC]
  • SNAR-A13:small NF90 (ILF3) associated RNA A13 [Gene - HGNC]
  • SNAR-A1:small NF90 (ILF3) associated RNA A1 [Gene - HGNC]
  • SNAR-A2:small NF90 (ILF3) associated RNA A2 [Gene - HGNC]
  • SNAR-A3:small NF90 (ILF3) associated RNA A3 [Gene - HGNC]
  • SNAR-C1:small NF90 (ILF3) associated RNA C1 [Gene - HGNC]
  • SNAR-C2:small NF90 (ILF3) associated RNA C2 [Gene - HGNC]
  • SNAR-C3:small NF90 (ILF3) associated RNA C3 [Gene - HGNC]
  • SNAR-C4:small NF90 (ILF3) associated RNA C4 [Gene - HGNC]
  • SNAR-C5:small NF90 (ILF3) associated RNA C5 [Gene - HGNC]
  • SNAR-E:small NF90 (ILF3) associated RNA E [Gene - HGNC]
  • SNAR-G1:small NF90 (ILF3) associated RNA G1 [Gene - HGNC]
  • SNAR-G2:small NF90 (ILF3) associated RNA G2 [Gene - HGNC]
  • SNORD23:small nucleolar RNA, C/D box 23 [Gene - HGNC]
  • SLC1A5:solute carrier family 1 member 5 [Gene - OMIM - HGNC]
  • SLC8A2:solute carrier family 8 member A2 [Gene - OMIM - HGNC]
  • SPACA4:sperm acrosome associated 4 [Gene - OMIM - HGNC]
  • SPHK2:sphingosine kinase 2 [Gene - OMIM - HGNC]
  • SAXO3:stabilizer of axonemal microtubules 3 [Gene - HGNC]
  • STRN4:striatin 4 [Gene - OMIM - HGNC]
  • SULT2A1:sulfotransferase family 2A member 1 [Gene - OMIM - HGNC]
  • SULT2B1:sulfotransferase family 2B member 1 [Gene - OMIM - HGNC]
  • SYNGR4:synaptogyrin 4 [Gene - OMIM - HGNC]
  • TPRX1:tetrapeptide repeat homeobox 1 [Gene - OMIM - HGNC]
  • TPRX2:tetrapeptide repeat homeobox 2 [Gene - OMIM - HGNC]
  • TMEM143:transmembrane protein 143 [Gene - HGNC]
  • TMEM160:transmembrane protein 160 [Gene - OMIM - HGNC]
  • LOC105372430:uncharacterized LOC105372430 [Gene]
  • LOC105447645:uncharacterized LOC105447645 [Gene]
  • ZC3H4:zinc finger CCCH-type containing 4 [Gene - OMIM - HGNC]
  • ZSWIM9:zinc finger SWIM-type containing 9 [Gene - HGNC]
  • ZNF114:zinc finger protein 114 [Gene - OMIM - HGNC]
  • ZNF541:zinc finger protein 541 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.32-13.33
Genomic location:
Preferred name:
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3
HGVS:
  • NC_000019.10:g.(?_46658791)_(49050450_?)dup
  • NC_000019.8:g.(?_51853888)_(54245519_?)dup
  • NC_000019.9:g.(?_47162048)_(49553707_?)dup
Links:
dbVar: nssv578808; dbVar: nsv531627
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
SCV000080267GeneDx
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]

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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, SCV000080267.4

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

Last Updated: Sep 1, 2024