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GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 25, 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:
RCV000135937.6

Allele description [Variation Report for GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1]

GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1

Genes:
  • ADGRL1-AS1:ADGRL1 antisense RNA 1 [Gene - HGNC]
  • LOC130063643:ATAC-STARR-seq lymphoblastoid active region 14058 [Gene]
  • LOC130063645:ATAC-STARR-seq lymphoblastoid active region 14059 [Gene]
  • LOC130063646:ATAC-STARR-seq lymphoblastoid active region 14060 [Gene]
  • LOC130063648:ATAC-STARR-seq lymphoblastoid active region 14063 [Gene]
  • LOC130063651:ATAC-STARR-seq lymphoblastoid active region 14069 [Gene]
  • LOC130063652:ATAC-STARR-seq lymphoblastoid active region 14070 [Gene]
  • LOC130063653:ATAC-STARR-seq lymphoblastoid active region 14071 [Gene]
  • LOC130063654:ATAC-STARR-seq lymphoblastoid active region 14072 [Gene]
  • LOC130063655:ATAC-STARR-seq lymphoblastoid active region 14073 [Gene]
  • LOC130063663:ATAC-STARR-seq lymphoblastoid active region 14077 [Gene]
  • LOC130063664:ATAC-STARR-seq lymphoblastoid active region 14078 [Gene]
  • LOC130063665:ATAC-STARR-seq lymphoblastoid active region 14079 [Gene]
  • LOC130063667:ATAC-STARR-seq lymphoblastoid active region 14082 [Gene]
  • LOC130063668:ATAC-STARR-seq lymphoblastoid active region 14083 [Gene]
  • LOC130063672:ATAC-STARR-seq lymphoblastoid active region 14087 [Gene]
  • LOC130063674:ATAC-STARR-seq lymphoblastoid active region 14090 [Gene]
  • LOC130063675:ATAC-STARR-seq lymphoblastoid active region 14092 [Gene]
  • LOC130063676:ATAC-STARR-seq lymphoblastoid active region 14093 [Gene]
  • LOC130063677:ATAC-STARR-seq lymphoblastoid active region 14095 [Gene]
  • LOC130063678:ATAC-STARR-seq lymphoblastoid active region 14096 [Gene]
  • LOC130063679:ATAC-STARR-seq lymphoblastoid active region 14100 [Gene]
  • LOC130063680:ATAC-STARR-seq lymphoblastoid active region 14101 [Gene]
  • LOC130063681:ATAC-STARR-seq lymphoblastoid active region 14102 [Gene]
  • LOC130063685:ATAC-STARR-seq lymphoblastoid active region 14103 [Gene]
  • LOC130063687:ATAC-STARR-seq lymphoblastoid active region 14104 [Gene]
  • LOC130063688:ATAC-STARR-seq lymphoblastoid active region 14106 [Gene]
  • LOC130063690:ATAC-STARR-seq lymphoblastoid active region 14109 [Gene]
  • LOC130063691:ATAC-STARR-seq lymphoblastoid active region 14110 [Gene]
  • LOC130063695:ATAC-STARR-seq lymphoblastoid active region 14111 [Gene]
  • LOC130063698:ATAC-STARR-seq lymphoblastoid active region 14112 [Gene]
  • LOC130063699:ATAC-STARR-seq lymphoblastoid active region 14113 [Gene]
  • LOC130063701:ATAC-STARR-seq lymphoblastoid active region 14114 [Gene]
  • LOC130063702:ATAC-STARR-seq lymphoblastoid active region 14115 [Gene]
  • LOC130063705:ATAC-STARR-seq lymphoblastoid active region 14116 [Gene]
  • LOC130063706:ATAC-STARR-seq lymphoblastoid active region 14117 [Gene]
  • LOC130063707:ATAC-STARR-seq lymphoblastoid active region 14118 [Gene]
  • LOC130063708:ATAC-STARR-seq lymphoblastoid active region 14119 [Gene]
  • LOC130063709:ATAC-STARR-seq lymphoblastoid active region 14120 [Gene]
  • LOC130063711:ATAC-STARR-seq lymphoblastoid active region 14121 [Gene]
  • LOC130063712:ATAC-STARR-seq lymphoblastoid active region 14122 [Gene]
  • LOC130063713:ATAC-STARR-seq lymphoblastoid active region 14123 [Gene]
  • LOC130063714:ATAC-STARR-seq lymphoblastoid active region 14124 [Gene]
  • LOC130063715:ATAC-STARR-seq lymphoblastoid active region 14125 [Gene]
  • LOC130063718:ATAC-STARR-seq lymphoblastoid active region 14127 [Gene]
  • LOC130063721:ATAC-STARR-seq lymphoblastoid active region 14132 [Gene]
  • LOC130063722:ATAC-STARR-seq lymphoblastoid active region 14133 [Gene]
  • LOC130063725:ATAC-STARR-seq lymphoblastoid active region 14134 [Gene]
  • LOC130063726:ATAC-STARR-seq lymphoblastoid active region 14135 [Gene]
  • LOC130063727:ATAC-STARR-seq lymphoblastoid active region 14136 [Gene]
  • LOC130063730:ATAC-STARR-seq lymphoblastoid active region 14137 [Gene]
  • LOC130063731:ATAC-STARR-seq lymphoblastoid active region 14139 [Gene]
  • LOC130063732:ATAC-STARR-seq lymphoblastoid active region 14140 [Gene]
  • LOC130063734:ATAC-STARR-seq lymphoblastoid active region 14141 [Gene]
  • LOC130063735:ATAC-STARR-seq lymphoblastoid active region 14142 [Gene]
  • LOC130063736:ATAC-STARR-seq lymphoblastoid active region 14143 [Gene]
  • LOC130063738:ATAC-STARR-seq lymphoblastoid active region 14144 [Gene]
  • LOC130063739:ATAC-STARR-seq lymphoblastoid active region 14145 [Gene]
  • LOC130063740:ATAC-STARR-seq lymphoblastoid active region 14146 [Gene]
  • LOC130063743:ATAC-STARR-seq lymphoblastoid active region 14147 [Gene]
  • LOC130063744:ATAC-STARR-seq lymphoblastoid active region 14148 [Gene]
  • LOC130063745:ATAC-STARR-seq lymphoblastoid active region 14149 [Gene]
  • LOC130063747:ATAC-STARR-seq lymphoblastoid active region 14150 [Gene]
  • LOC130063749:ATAC-STARR-seq lymphoblastoid active region 14151 [Gene]
  • LOC130063750:ATAC-STARR-seq lymphoblastoid active region 14152 [Gene]
  • LOC130063757:ATAC-STARR-seq lymphoblastoid active region 14153 [Gene]
  • LOC130063758:ATAC-STARR-seq lymphoblastoid active region 14154 [Gene]
  • LOC130063766:ATAC-STARR-seq lymphoblastoid active region 14155 [Gene]
  • LOC130063768:ATAC-STARR-seq lymphoblastoid active region 14156 [Gene]
  • LOC130063774:ATAC-STARR-seq lymphoblastoid active region 14160 [Gene]
  • LOC130063775:ATAC-STARR-seq lymphoblastoid active region 14161 [Gene]
  • LOC130063776:ATAC-STARR-seq lymphoblastoid active region 14162 [Gene]
  • LOC130063777:ATAC-STARR-seq lymphoblastoid active region 14163 [Gene]
  • LOC130063779:ATAC-STARR-seq lymphoblastoid active region 14164 [Gene]
  • LOC130063780:ATAC-STARR-seq lymphoblastoid active region 14165 [Gene]
  • LOC130063783:ATAC-STARR-seq lymphoblastoid active region 14166 [Gene]
  • LOC130063784:ATAC-STARR-seq lymphoblastoid active region 14167 [Gene]
  • LOC130063785:ATAC-STARR-seq lymphoblastoid active region 14168 [Gene]
  • LOC130063787:ATAC-STARR-seq lymphoblastoid active region 14169 [Gene]
  • LOC130063788:ATAC-STARR-seq lymphoblastoid active region 14170 [Gene]
  • LOC130063789:ATAC-STARR-seq lymphoblastoid active region 14171 [Gene]
  • LOC130063793:ATAC-STARR-seq lymphoblastoid active region 14172 [Gene]
  • LOC130063795:ATAC-STARR-seq lymphoblastoid active region 14173 [Gene]
  • LOC130063796:ATAC-STARR-seq lymphoblastoid active region 14174 [Gene]
  • LOC130063797:ATAC-STARR-seq lymphoblastoid active region 14175 [Gene]
  • LOC130063798:ATAC-STARR-seq lymphoblastoid active region 14176 [Gene]
  • LOC130063799:ATAC-STARR-seq lymphoblastoid active region 14177 [Gene]
  • LOC130063800:ATAC-STARR-seq lymphoblastoid active region 14178 [Gene]
  • LOC130063644:ATAC-STARR-seq lymphoblastoid silent region 10153 [Gene]
  • LOC130063647:ATAC-STARR-seq lymphoblastoid silent region 10154 [Gene]
  • LOC130063649:ATAC-STARR-seq lymphoblastoid silent region 10155 [Gene]
  • LOC130063650:ATAC-STARR-seq lymphoblastoid silent region 10156 [Gene]
  • LOC130063656:ATAC-STARR-seq lymphoblastoid silent region 10157 [Gene]
  • LOC130063657:ATAC-STARR-seq lymphoblastoid silent region 10158 [Gene]
  • LOC130063658:ATAC-STARR-seq lymphoblastoid silent region 10160 [Gene]
  • LOC130063659:ATAC-STARR-seq lymphoblastoid silent region 10161 [Gene]
  • LOC130063660:ATAC-STARR-seq lymphoblastoid silent region 10165 [Gene]
  • LOC130063661:ATAC-STARR-seq lymphoblastoid silent region 10166 [Gene]
  • LOC130063662:ATAC-STARR-seq lymphoblastoid silent region 10167 [Gene]
  • LOC130063666:ATAC-STARR-seq lymphoblastoid silent region 10173 [Gene]
  • LOC130063669:ATAC-STARR-seq lymphoblastoid silent region 10176 [Gene]
  • LOC130063670:ATAC-STARR-seq lymphoblastoid silent region 10177 [Gene]
  • LOC130063671:ATAC-STARR-seq lymphoblastoid silent region 10178 [Gene]
  • LOC130063673:ATAC-STARR-seq lymphoblastoid silent region 10180 [Gene]
  • LOC130063682:ATAC-STARR-seq lymphoblastoid silent region 10186 [Gene]
  • LOC130063683:ATAC-STARR-seq lymphoblastoid silent region 10187 [Gene]
  • LOC130063684:ATAC-STARR-seq lymphoblastoid silent region 10188 [Gene]
  • LOC130063686:ATAC-STARR-seq lymphoblastoid silent region 10189 [Gene]
  • LOC130063689:ATAC-STARR-seq lymphoblastoid silent region 10191 [Gene]
  • LOC130063692:ATAC-STARR-seq lymphoblastoid silent region 10192 [Gene]
  • LOC130063693:ATAC-STARR-seq lymphoblastoid silent region 10193 [Gene]
  • LOC130063694:ATAC-STARR-seq lymphoblastoid silent region 10194 [Gene]
  • LOC130063696:ATAC-STARR-seq lymphoblastoid silent region 10195 [Gene]
  • LOC130063697:ATAC-STARR-seq lymphoblastoid silent region 10196 [Gene]
  • LOC130063700:ATAC-STARR-seq lymphoblastoid silent region 10197 [Gene]
  • LOC130063703:ATAC-STARR-seq lymphoblastoid silent region 10199 [Gene]
  • LOC130063704:ATAC-STARR-seq lymphoblastoid silent region 10200 [Gene]
  • LOC130063710:ATAC-STARR-seq lymphoblastoid silent region 10201 [Gene]
  • LOC130063716:ATAC-STARR-seq lymphoblastoid silent region 10202 [Gene]
  • LOC130063717:ATAC-STARR-seq lymphoblastoid silent region 10203 [Gene]
  • LOC130063719:ATAC-STARR-seq lymphoblastoid silent region 10204 [Gene]
  • LOC130063720:ATAC-STARR-seq lymphoblastoid silent region 10205 [Gene]
  • LOC130063723:ATAC-STARR-seq lymphoblastoid silent region 10207 [Gene]
  • LOC130063724:ATAC-STARR-seq lymphoblastoid silent region 10208 [Gene]
  • LOC130063728:ATAC-STARR-seq lymphoblastoid silent region 10209 [Gene]
  • LOC130063729:ATAC-STARR-seq lymphoblastoid silent region 10210 [Gene]
  • LOC130063733:ATAC-STARR-seq lymphoblastoid silent region 10211 [Gene]
  • LOC130063737:ATAC-STARR-seq lymphoblastoid silent region 10212 [Gene]
  • LOC130063741:ATAC-STARR-seq lymphoblastoid silent region 10216 [Gene]
  • LOC130063742:ATAC-STARR-seq lymphoblastoid silent region 10217 [Gene]
  • LOC130063746:ATAC-STARR-seq lymphoblastoid silent region 10218 [Gene]
  • LOC130063748:ATAC-STARR-seq lymphoblastoid silent region 10219 [Gene]
  • LOC130063751:ATAC-STARR-seq lymphoblastoid silent region 10222 [Gene]
  • LOC130063752:ATAC-STARR-seq lymphoblastoid silent region 10223 [Gene]
  • LOC130063753:ATAC-STARR-seq lymphoblastoid silent region 10224 [Gene]
  • LOC130063754:ATAC-STARR-seq lymphoblastoid silent region 10225 [Gene]
  • LOC130063755:ATAC-STARR-seq lymphoblastoid silent region 10226 [Gene]
  • LOC130063756:ATAC-STARR-seq lymphoblastoid silent region 10227 [Gene]
  • LOC130063759:ATAC-STARR-seq lymphoblastoid silent region 10228 [Gene]
  • LOC130063760:ATAC-STARR-seq lymphoblastoid silent region 10229 [Gene]
  • LOC130063761:ATAC-STARR-seq lymphoblastoid silent region 10230 [Gene]
  • LOC130063762:ATAC-STARR-seq lymphoblastoid silent region 10231 [Gene]
  • LOC130063763:ATAC-STARR-seq lymphoblastoid silent region 10232 [Gene]
  • LOC130063764:ATAC-STARR-seq lymphoblastoid silent region 10233 [Gene]
  • LOC130063765:ATAC-STARR-seq lymphoblastoid silent region 10234 [Gene]
  • LOC130063767:ATAC-STARR-seq lymphoblastoid silent region 10235 [Gene]
  • LOC130063769:ATAC-STARR-seq lymphoblastoid silent region 10237 [Gene]
  • LOC130063770:ATAC-STARR-seq lymphoblastoid silent region 10238 [Gene]
  • LOC130063771:ATAC-STARR-seq lymphoblastoid silent region 10240 [Gene]
  • LOC130063772:ATAC-STARR-seq lymphoblastoid silent region 10241 [Gene]
  • LOC130063773:ATAC-STARR-seq lymphoblastoid silent region 10242 [Gene]
  • LOC130063778:ATAC-STARR-seq lymphoblastoid silent region 10244 [Gene]
  • LOC130063781:ATAC-STARR-seq lymphoblastoid silent region 10246 [Gene]
  • LOC130063782:ATAC-STARR-seq lymphoblastoid silent region 10247 [Gene]
  • LOC130063786:ATAC-STARR-seq lymphoblastoid silent region 10248 [Gene]
  • LOC130063790:ATAC-STARR-seq lymphoblastoid silent region 10255 [Gene]
  • LOC130063791:ATAC-STARR-seq lymphoblastoid silent region 10256 [Gene]
  • LOC130063792:ATAC-STARR-seq lymphoblastoid silent region 10257 [Gene]
  • LOC130063794:ATAC-STARR-seq lymphoblastoid silent region 10260 [Gene]
  • LOC130063801:ATAC-STARR-seq lymphoblastoid silent region 10261 [Gene]
  • LOC130063802:ATAC-STARR-seq lymphoblastoid silent region 10262 [Gene]
  • LOC130063803:ATAC-STARR-seq lymphoblastoid silent region 10263 [Gene]
  • LOC126862858:BRD4-independent group 4 enhancer GRCh37_chr19:12754106-12755305 [Gene]
  • LOC126862860:BRD4-independent group 4 enhancer GRCh37_chr19:13010146-13011345 [Gene]
  • LOC126862863:BRD4-independent group 4 enhancer GRCh37_chr19:13063321-13064520 [Gene]
  • CLEC17A:C-type lectin domain containing 17A [Gene - OMIM - HGNC]
  • LOC126862859:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:12811952-12813151 [Gene]
  • LOC126862862:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13058093-13059292 [Gene]
  • LOC126862865:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 [Gene]
  • LOC126862867:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:14507248-14508447 [Gene]
  • LOC126862868:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:14512346-14513545 [Gene]
  • LOC117125592:CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element [Gene]
  • LOC117125597:CRISPRi-FlowFISH-validated CALR, DNASE2 and KLF1 regulatory element [Gene]
  • LOC117038783:CRISPRi-FlowFISH-validated DHPS regulatory element [Gene]
  • LOC117038787:CRISPRi-FlowFISH-validated DNASE2 and PRDX2 regulatory element [Gene]
  • LOC117125589:CRISPRi-FlowFISH-validated DNASE2 regulatory element 1 [Gene]
  • LOC117125590:CRISPRi-FlowFISH-validated DNASE2 regulatory element 2 [Gene]
  • LOC117038790:CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 1 [Gene]
  • LOC117038791:CRISPRi-FlowFISH-validated JUNB and PRDX2 regulatory element 2 [Gene]
  • LOC117038792:CRISPRi-FlowFISH-validated JUNB regulatory element [Gene]
  • LOC117125587:CRISPRi-FlowFISH-validated KLF1 and PRDX2 regulatory element [Gene]
  • LOC117125588:CRISPRi-FlowFISH-validated KLF1 regulatory element 1 [Gene]
  • LOC117125593:CRISPRi-FlowFISH-validated KLF1 regulatory element 2 [Gene]
  • LOC117125595:CRISPRi-FlowFISH-validated KLF1 regulatory element 3 [Gene]
  • LOC117125594:CRISPRi-FlowFISH-validated KLF1 regulatory element [Gene]
  • LOC117125591:CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element [Gene]
  • LOC117038788:CRISPRi-FlowFISH-validated PRDX2 regulatory element 1 [Gene]
  • LOC117038789:CRISPRi-FlowFISH-validated PRDX2 regulatory element 2 [Gene]
  • LOC117038793:CRISPRi-FlowFISH-validated PRDX2 regulatory element 3 [Gene]
  • LOC117038795:CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 [Gene]
  • LOC117125585:CRISPRi-FlowFISH-validated PRDX2 regulatory element 5 [Gene]
  • LOC117125586:CRISPRi-FlowFISH-validated PRDX2 regulatory element 6 [Gene]
  • LOC117125598:CRISPRi-FlowFISH-validated PRDX2 regulatory element 7 [Gene]
  • LOC117038785:CRISPRi-FlowFISH-validated RAD23A regulatory element 1 [Gene]
  • LOC117125596:CRISPRi-FlowFISH-validated RAD23A regulatory element 2 [Gene]
  • LOC117038794:CRISPRi-FlowFISH-validated RNASEH2A regulatory element [Gene]
  • LOC117038786:CRISPRi-FlowFISH-validated TRIR regulatory element [Gene]
  • LOC112543448:CRISPRi-FlowFISH-validated WDR83OS regulatory elements [Gene]
  • LOC116276504:CRISPRi-validated cis-regulatory element chr19.2258 [Gene]
  • LOC116276505:CRISPRi-validated cis-regulatory element chr19.2299 [Gene]
  • DAND5:DAN domain BMP antagonist family member 5 [Gene - OMIM - HGNC]
  • DCAF15:DDB1 and CUL4 associated factor 15 [Gene - OMIM - HGNC]
  • DDX39A:DExD-box helicase 39A [Gene - OMIM - HGNC]
  • DNAJB1:DnaJ heat shock protein family (Hsp40) member B1 [Gene - OMIM - HGNC]
  • FBXW9:F-box and WD repeat domain containing 9 [Gene - OMIM - HGNC]
  • FARSA-AS1:FARSA antisense RNA 1 [Gene - HGNC]
  • GNG14:G protein subunit gamma 14 [Gene - HGNC]
  • GADD45GIP1:GADD45G interacting protein 1 [Gene - OMIM - HGNC]
  • GIPC1:GIPC PDZ domain containing family member 1 [Gene - OMIM - HGNC]
  • JUNB:JunB proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]
  • LYL1:LYL1 basic helix-loop-helix family member [Gene - OMIM - HGNC]
  • LOC126862861:MED14-independent group 3 enhancer GRCh37_chr19:13050707-13051906 [Gene]
  • LOC126862864:MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 [Gene]
  • LOC126862866:MED14-independent group 3 enhancer GRCh37_chr19:13445719-13446918 [Gene]
  • MISP3:MISP family member 3 [Gene - HGNC]
  • LOC129391064:MPRA-validated peak3365 silencer [Gene]
  • LOC129391065:MPRA-validated peak3367 silencer [Gene]
  • LOC129391066:MPRA-validated peak3368 silencer [Gene]
  • LOC129391067:MPRA-validated peak3373 silencer [Gene]
  • LOC129391068:MPRA-validated peak3374 silencer [Gene]
  • LOC129391069:MPRA-validated peak3376 silencer [Gene]
  • LOC129391070:MPRA-validated peak3378 silencer [Gene]
  • LOC129391071:MPRA-validated peak3379 silencer [Gene]
  • LOC129391072:MPRA-validated peak3380 silencer [Gene]
  • LOC129391073:MPRA-validated peak3381 silencer [Gene]
  • LOC129391074:MPRA-validated peak3382 silencer [Gene]
  • NDUFB7:NADH:ubiquinone oxidoreductase subunit B7 [Gene - OMIM - HGNC]
  • LOC126862857:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:12690738-12691937 [Gene]
  • LOC111365163:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:13509521-13510720 [Gene]
  • LOC126862869:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr19:14841378-14842577 [Gene]
  • RAD23A:RAD23 homolog A, nucleotide excision repair protein [Gene - OMIM - HGNC]
  • LOC125371481:Sharpr-MPRA regulatory region 11818 [Gene]
  • LOC125371483:Sharpr-MPRA regulatory region 12148 [Gene]
  • LOC112543459:Sharpr-MPRA regulatory region 1233 [Gene]
  • LOC121852981:Sharpr-MPRA regulatory region 13460 [Gene]
  • LOC112543458:Sharpr-MPRA regulatory region 13602 [Gene]
  • LOC121852980:Sharpr-MPRA regulatory region 13658 [Gene]
  • LOC112543455:Sharpr-MPRA regulatory region 14065 [Gene]
  • LOC125371482:Sharpr-MPRA regulatory region 14201 [Gene]
  • LOC125371484:Sharpr-MPRA regulatory region 1520 [Gene]
  • LOC121627858:Sharpr-MPRA regulatory region 2073 [Gene]
  • LOC112543461:Sharpr-MPRA regulatory region 3261 [Gene]
  • LOC125371480:Sharpr-MPRA regulatory region 4901 [Gene]
  • LOC112543452:Sharpr-MPRA regulatory region 6054 [Gene]
  • LOC121627856:Sharpr-MPRA regulatory region 7322 [Gene]
  • LOC112543454:Sharpr-MPRA regulatory region 7930 [Gene]
  • LOC121627857:Sharpr-MPRA regulatory region 8500 [Gene]
  • LOC110121458:VISTA enhancer hs1900 [Gene]
  • WDR83OS:WD repeat domain 83 opposite strand [Gene - OMIM - HGNC]
  • WDR83:WD repeat domain 83 [Gene - OMIM - HGNC]
  • YJU2B:YJU2 splicing factor homolog B [Gene - HGNC]
  • ADGRE2:adhesion G protein-coupled receptor E2 [Gene - OMIM - HGNC]
  • ADGRE3:adhesion G protein-coupled receptor E3 [Gene - OMIM - HGNC]
  • ADGRE5:adhesion G protein-coupled receptor E5 [Gene - OMIM - HGNC]
  • ADGRL1:adhesion G protein-coupled receptor L1 [Gene - OMIM - HGNC]
  • ASF1B:anti-silencing function 1B histone chaperone [Gene - OMIM - HGNC]
  • BEST2:bestrophin 2 [Gene - OMIM - HGNC]
  • BRME1:break repair meiotic recombinase recruitment factor 1 [Gene - OMIM - HGNC]
  • LOC108663985:calcium voltage-gated channel subunit alpha1 A repeat instability region [Gene]
  • CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
  • CALR:calreticulin [Gene - OMIM - HGNC]
  • C19orf53:chromosome 19 open reading frame 53 [Gene - OMIM - HGNC]
  • C19orf67:chromosome 19 open reading frame 67 [Gene - HGNC]
  • CC2D1A:coiled-coil and C2 domain containing 1A [Gene - OMIM - HGNC]
  • DHPS:deoxyhypusine synthase [Gene - OMIM - HGNC]
  • DNASE2:deoxyribonuclease 2, lysosomal [Gene - OMIM - HGNC]
  • GCDH:glutaryl-CoA dehydrogenase [Gene - OMIM - HGNC]
  • GET3:guided entry of tail-anchored proteins factor 3, ATPase [Gene - OMIM - HGNC]
  • HOOK2:hook microtubule tethering protein 2 [Gene - OMIM - HGNC]
  • IER2:immediate early response 2 [Gene - OMIM - HGNC]
  • IL27RA:interleukin 27 receptor subunit alpha [Gene - OMIM - HGNC]
  • LINC01841:long intergenic non-protein coding RNA 1841 [Gene - HGNC]
  • LINC01842:long intergenic non-protein coding RNA 1842 [Gene - HGNC]
  • MAN2B1:mannosidase alpha class 2B member 1 [Gene - OMIM - HGNC]
  • MRI1:methylthioribose-1-phosphate isomerase 1 [Gene - OMIM - HGNC]
  • MIR23AHG:miR-23a/27a/24-2 cluster host gene [Gene - HGNC]
  • MIR1199:microRNA 1199 [Gene - HGNC]
  • MIR181C:microRNA 181c [Gene - OMIM - HGNC]
  • MIR181D:microRNA 181d [Gene - HGNC]
  • MIR23A:microRNA 23a [Gene - OMIM - HGNC]
  • MIR24-2:microRNA 24-2 [Gene - OMIM - HGNC]
  • MIR27A:microRNA 27a [Gene - OMIM - HGNC]
  • MIR5684:microRNA 5684 [Gene - HGNC]
  • MIR5695:microRNA 5695 [Gene - HGNC]
  • MIR639:microRNA 639 [Gene - HGNC]
  • MIR6515:microRNA 6515 [Gene - HGNC]
  • MIR6794:microRNA 6794 [Gene - HGNC]
  • MAST1:microtubule associated serine/threonine kinase 1 [Gene - OMIM - HGNC]
  • NANOS3:nanos C2HC-type zinc finger 3 [Gene - OMIM - HGNC]
  • NFIX:nuclear factor I X [Gene - OMIM - HGNC]
  • NACC1:nucleus accumbens associated 1 [Gene - OMIM - HGNC]
  • PALM3:paralemmin 3 [Gene - HGNC]
  • PRDX2:peroxiredoxin 2 [Gene - OMIM - HGNC]
  • FARSA:phenylalanyl-tRNA synthetase subunit alpha [Gene - OMIM - HGNC]
  • PODNL1:podocan like 1 [Gene - HGNC]
  • PTGER1:prostaglandin E receptor 1 [Gene - OMIM - HGNC]
  • PKN1:protein kinase N1 [Gene - OMIM - HGNC]
  • PRKACA:protein kinase cAMP-activated catalytic subunit alpha [Gene - OMIM - HGNC]
  • RFX1:regulatory factor X1 [Gene - OMIM - HGNC]
  • RLN3:relaxin 3 [Gene - OMIM - HGNC]
  • RTBDN:retbindin [Gene - OMIM - HGNC]
  • RNASEH2A:ribonuclease H2 subunit A [Gene - OMIM - HGNC]
  • SMIM46:small integral membrane protein 46 [Gene - HGNC]
  • SNORD135:small nucleolar RNA, C/D box 135 [Gene - HGNC]
  • SNORD41:small nucleolar RNA, C/D box 41 [Gene - HGNC]
  • SNORA104:small nucleolar RNA, H/ACA box 104 [Gene - HGNC]
  • SAMD1:sterile alpha motif domain containing 1 [Gene - OMIM - HGNC]
  • SYCE2:synaptonemal complex central element protein 2 [Gene - OMIM - HGNC]
  • STX10:syntaxin 10 [Gene - OMIM - HGNC]
  • TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]
  • TRIR:telomerase RNA component interacting RNase [Gene - HGNC]
  • THSD8:thrombospondin type 1 domain containing 8 [Gene - HGNC]
  • TECR:trans-2,3-enoyl-CoA reductase [Gene - OMIM - HGNC]
  • TNPO2:transportin 2 [Gene - OMIM - HGNC]
  • LOC105372281:uncharacterized LOC105372281 [Gene]
  • ZSWIM4:zinc finger SWIM-type containing 4 [Gene - OMIM - HGNC]
  • ZNF333:zinc finger protein 333 [Gene - OMIM - HGNC]
  • ZNF490:zinc finger protein 490 [Gene - OMIM - HGNC]
  • ZNF791:zinc finger protein 791 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.2-13.12
Genomic location:
Preferred name:
GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1
HGVS:
  • NC_000019.10:g.(?_12580427)_(14742673_?)del
  • NC_000019.8:g.(?_12552241)_(14714485_?)del
  • NC_000019.9:g.(?_12691241)_(14853485_?)del
Links:
dbVar: nssv706491; dbVar: nsv533228
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000175954ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 25, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 1, SCV000175954.4

#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