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GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)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:
RCV000053600.7

Allele description [Variation Report for GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3]

GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3

Genes:
  • AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
  • LOC129999771:ATAC-STARR-seq lymphoblastoid active region 26938 [Gene]
  • LOC129999772:ATAC-STARR-seq lymphoblastoid active region 26939 [Gene]
  • LOC129999773:ATAC-STARR-seq lymphoblastoid active region 26940 [Gene]
  • LOC129999774:ATAC-STARR-seq lymphoblastoid active region 26941 [Gene]
  • LOC129999775:ATAC-STARR-seq lymphoblastoid active region 26942 [Gene]
  • LOC129999777:ATAC-STARR-seq lymphoblastoid active region 26944 [Gene]
  • LOC129999778:ATAC-STARR-seq lymphoblastoid active region 26945 [Gene]
  • LOC129999781:ATAC-STARR-seq lymphoblastoid active region 26946 [Gene]
  • LOC129999783:ATAC-STARR-seq lymphoblastoid active region 26948 [Gene]
  • LOC129999784:ATAC-STARR-seq lymphoblastoid active region 26949 [Gene]
  • LOC129999785:ATAC-STARR-seq lymphoblastoid active region 26950 [Gene]
  • LOC129999786:ATAC-STARR-seq lymphoblastoid active region 26951 [Gene]
  • LOC129999787:ATAC-STARR-seq lymphoblastoid active region 26952 [Gene]
  • LOC129999791:ATAC-STARR-seq lymphoblastoid active region 26953 [Gene]
  • LOC129999792:ATAC-STARR-seq lymphoblastoid active region 26954 [Gene]
  • LOC129999793:ATAC-STARR-seq lymphoblastoid active region 26955 [Gene]
  • LOC129999795:ATAC-STARR-seq lymphoblastoid active region 26956 [Gene]
  • LOC129999796:ATAC-STARR-seq lymphoblastoid active region 26957 [Gene]
  • LOC129999797:ATAC-STARR-seq lymphoblastoid active region 26958 [Gene]
  • LOC129999798:ATAC-STARR-seq lymphoblastoid active region 26959 [Gene]
  • LOC129999799:ATAC-STARR-seq lymphoblastoid active region 26960 [Gene]
  • LOC129999803:ATAC-STARR-seq lymphoblastoid active region 26961 [Gene]
  • LOC129999805:ATAC-STARR-seq lymphoblastoid active region 26962 [Gene]
  • LOC129999807:ATAC-STARR-seq lymphoblastoid active region 26963 [Gene]
  • LOC129999808:ATAC-STARR-seq lymphoblastoid active region 26964 [Gene]
  • LOC129999809:ATAC-STARR-seq lymphoblastoid active region 26965 [Gene]
  • LOC129999811:ATAC-STARR-seq lymphoblastoid active region 26966 [Gene]
  • LOC129999817:ATAC-STARR-seq lymphoblastoid active region 26967 [Gene]
  • LOC129999818:ATAC-STARR-seq lymphoblastoid active region 26968 [Gene]
  • LOC129999819:ATAC-STARR-seq lymphoblastoid active region 26969 [Gene]
  • LOC129999820:ATAC-STARR-seq lymphoblastoid active region 26970 [Gene]
  • LOC129999821:ATAC-STARR-seq lymphoblastoid active region 26971 [Gene]
  • LOC129999822:ATAC-STARR-seq lymphoblastoid active region 26972 [Gene]
  • LOC129999824:ATAC-STARR-seq lymphoblastoid active region 26973 [Gene]
  • LOC129999825:ATAC-STARR-seq lymphoblastoid active region 26974 [Gene]
  • LOC129999826:ATAC-STARR-seq lymphoblastoid active region 26975 [Gene]
  • LOC129999827:ATAC-STARR-seq lymphoblastoid active region 26976 [Gene]
  • LOC129999828:ATAC-STARR-seq lymphoblastoid active region 26977 [Gene]
  • LOC129999830:ATAC-STARR-seq lymphoblastoid active region 26978 [Gene]
  • LOC129999831:ATAC-STARR-seq lymphoblastoid active region 26979 [Gene]
  • LOC129999834:ATAC-STARR-seq lymphoblastoid active region 26980 [Gene]
  • LOC129999835:ATAC-STARR-seq lymphoblastoid active region 26981 [Gene]
  • LOC129999837:ATAC-STARR-seq lymphoblastoid active region 26982 [Gene]
  • LOC129999838:ATAC-STARR-seq lymphoblastoid active region 26983 [Gene]
  • LOC129999839:ATAC-STARR-seq lymphoblastoid active region 26984 [Gene]
  • LOC129999840:ATAC-STARR-seq lymphoblastoid active region 26985 [Gene]
  • LOC129999841:ATAC-STARR-seq lymphoblastoid active region 26986 [Gene]
  • LOC129999843:ATAC-STARR-seq lymphoblastoid active region 26987 [Gene]
  • LOC129999844:ATAC-STARR-seq lymphoblastoid active region 26988 [Gene]
  • LOC129999847:ATAC-STARR-seq lymphoblastoid active region 26989 [Gene]
  • LOC129999848:ATAC-STARR-seq lymphoblastoid active region 26990 [Gene]
  • LOC129999849:ATAC-STARR-seq lymphoblastoid active region 26991 [Gene]
  • LOC129999850:ATAC-STARR-seq lymphoblastoid active region 26992 [Gene]
  • LOC129999851:ATAC-STARR-seq lymphoblastoid active region 26993 [Gene]
  • LOC129999854:ATAC-STARR-seq lymphoblastoid active region 26997 [Gene]
  • LOC129999860:ATAC-STARR-seq lymphoblastoid active region 26998 [Gene]
  • LOC129999861:ATAC-STARR-seq lymphoblastoid active region 26999 [Gene]
  • LOC129999863:ATAC-STARR-seq lymphoblastoid active region 27000 [Gene]
  • LOC129999864:ATAC-STARR-seq lymphoblastoid active region 27001 [Gene]
  • LOC129999868:ATAC-STARR-seq lymphoblastoid active region 27002 [Gene]
  • LOC129999870:ATAC-STARR-seq lymphoblastoid active region 27003 [Gene]
  • LOC129999871:ATAC-STARR-seq lymphoblastoid active region 27004 [Gene]
  • LOC129999872:ATAC-STARR-seq lymphoblastoid active region 27006 [Gene]
  • LOC129999875:ATAC-STARR-seq lymphoblastoid active region 27008 [Gene]
  • LOC129999877:ATAC-STARR-seq lymphoblastoid active region 27009 [Gene]
  • LOC129999879:ATAC-STARR-seq lymphoblastoid active region 27010 [Gene]
  • LOC129999880:ATAC-STARR-seq lymphoblastoid active region 27011 [Gene]
  • LOC129999881:ATAC-STARR-seq lymphoblastoid active region 27012 [Gene]
  • LOC129999882:ATAC-STARR-seq lymphoblastoid active region 27013 [Gene]
  • LOC129999883:ATAC-STARR-seq lymphoblastoid active region 27014 [Gene]
  • LOC129999885:ATAC-STARR-seq lymphoblastoid active region 27015 [Gene]
  • LOC129999886:ATAC-STARR-seq lymphoblastoid active region 27019 [Gene]
  • LOC129999887:ATAC-STARR-seq lymphoblastoid active region 27020 [Gene]
  • LOC129999888:ATAC-STARR-seq lymphoblastoid active region 27021 [Gene]
  • LOC129999889:ATAC-STARR-seq lymphoblastoid active region 27022 [Gene]
  • LOC129999890:ATAC-STARR-seq lymphoblastoid active region 27023 [Gene]
  • LOC129999891:ATAC-STARR-seq lymphoblastoid active region 27024 [Gene]
  • LOC129999892:ATAC-STARR-seq lymphoblastoid active region 27025 [Gene]
  • LOC129999893:ATAC-STARR-seq lymphoblastoid active region 27026 [Gene]
  • LOC129999894:ATAC-STARR-seq lymphoblastoid active region 27027 [Gene]
  • LOC129999896:ATAC-STARR-seq lymphoblastoid active region 27028 [Gene]
  • LOC129999897:ATAC-STARR-seq lymphoblastoid active region 27029 [Gene]
  • LOC129999898:ATAC-STARR-seq lymphoblastoid active region 27030 [Gene]
  • LOC129999901:ATAC-STARR-seq lymphoblastoid active region 27031 [Gene]
  • LOC129999902:ATAC-STARR-seq lymphoblastoid active region 27032 [Gene]
  • LOC129999905:ATAC-STARR-seq lymphoblastoid active region 27033 [Gene]
  • LOC129999908:ATAC-STARR-seq lymphoblastoid active region 27034 [Gene]
  • LOC129999909:ATAC-STARR-seq lymphoblastoid active region 27035 [Gene]
  • LOC129999910:ATAC-STARR-seq lymphoblastoid active region 27036 [Gene]
  • LOC129999911:ATAC-STARR-seq lymphoblastoid active region 27037 [Gene]
  • LOC129999912:ATAC-STARR-seq lymphoblastoid active region 27038 [Gene]
  • LOC129999769:ATAC-STARR-seq lymphoblastoid silent region 18876 [Gene]
  • LOC129999770:ATAC-STARR-seq lymphoblastoid silent region 18877 [Gene]
  • LOC129999776:ATAC-STARR-seq lymphoblastoid silent region 18878 [Gene]
  • LOC129999779:ATAC-STARR-seq lymphoblastoid silent region 18880 [Gene]
  • LOC129999780:ATAC-STARR-seq lymphoblastoid silent region 18881 [Gene]
  • LOC129999782:ATAC-STARR-seq lymphoblastoid silent region 18882 [Gene]
  • LOC129999788:ATAC-STARR-seq lymphoblastoid silent region 18883 [Gene]
  • LOC129999789:ATAC-STARR-seq lymphoblastoid silent region 18884 [Gene]
  • LOC129999790:ATAC-STARR-seq lymphoblastoid silent region 18885 [Gene]
  • LOC129999794:ATAC-STARR-seq lymphoblastoid silent region 18886 [Gene]
  • LOC129999800:ATAC-STARR-seq lymphoblastoid silent region 18887 [Gene]
  • LOC129999801:ATAC-STARR-seq lymphoblastoid silent region 18889 [Gene]
  • LOC129999802:ATAC-STARR-seq lymphoblastoid silent region 18890 [Gene]
  • LOC129999804:ATAC-STARR-seq lymphoblastoid silent region 18891 [Gene]
  • LOC129999806:ATAC-STARR-seq lymphoblastoid silent region 18892 [Gene]
  • LOC129999810:ATAC-STARR-seq lymphoblastoid silent region 18893 [Gene]
  • LOC129999812:ATAC-STARR-seq lymphoblastoid silent region 18894 [Gene]
  • LOC129999813:ATAC-STARR-seq lymphoblastoid silent region 18895 [Gene]
  • LOC129999814:ATAC-STARR-seq lymphoblastoid silent region 18896 [Gene]
  • LOC129999815:ATAC-STARR-seq lymphoblastoid silent region 18897 [Gene]
  • LOC129999816:ATAC-STARR-seq lymphoblastoid silent region 18898 [Gene]
  • LOC129999823:ATAC-STARR-seq lymphoblastoid silent region 18899 [Gene]
  • LOC129999829:ATAC-STARR-seq lymphoblastoid silent region 18901 [Gene]
  • LOC129999832:ATAC-STARR-seq lymphoblastoid silent region 18903 [Gene]
  • LOC129999833:ATAC-STARR-seq lymphoblastoid silent region 18904 [Gene]
  • LOC129999836:ATAC-STARR-seq lymphoblastoid silent region 18906 [Gene]
  • LOC129999842:ATAC-STARR-seq lymphoblastoid silent region 18908 [Gene]
  • LOC129999845:ATAC-STARR-seq lymphoblastoid silent region 18909 [Gene]
  • LOC129999846:ATAC-STARR-seq lymphoblastoid silent region 18910 [Gene]
  • LOC129999852:ATAC-STARR-seq lymphoblastoid silent region 18914 [Gene]
  • LOC129999853:ATAC-STARR-seq lymphoblastoid silent region 18915 [Gene]
  • LOC129999855:ATAC-STARR-seq lymphoblastoid silent region 18917 [Gene]
  • LOC129999856:ATAC-STARR-seq lymphoblastoid silent region 18918 [Gene]
  • LOC129999857:ATAC-STARR-seq lymphoblastoid silent region 18919 [Gene]
  • LOC129999858:ATAC-STARR-seq lymphoblastoid silent region 18920 [Gene]
  • LOC129999859:ATAC-STARR-seq lymphoblastoid silent region 18921 [Gene]
  • LOC129999862:ATAC-STARR-seq lymphoblastoid silent region 18922 [Gene]
  • LOC129999865:ATAC-STARR-seq lymphoblastoid silent region 18923 [Gene]
  • LOC129999866:ATAC-STARR-seq lymphoblastoid silent region 18924 [Gene]
  • LOC129999867:ATAC-STARR-seq lymphoblastoid silent region 18925 [Gene]
  • LOC129999869:ATAC-STARR-seq lymphoblastoid silent region 18926 [Gene]
  • LOC129999873:ATAC-STARR-seq lymphoblastoid silent region 18929 [Gene]
  • LOC129999874:ATAC-STARR-seq lymphoblastoid silent region 18930 [Gene]
  • LOC129999876:ATAC-STARR-seq lymphoblastoid silent region 18931 [Gene]
  • LOC129999878:ATAC-STARR-seq lymphoblastoid silent region 18932 [Gene]
  • LOC129999884:ATAC-STARR-seq lymphoblastoid silent region 18933 [Gene]
  • LOC129999895:ATAC-STARR-seq lymphoblastoid silent region 18934 [Gene]
  • LOC129999899:ATAC-STARR-seq lymphoblastoid silent region 18935 [Gene]
  • LOC129999900:ATAC-STARR-seq lymphoblastoid silent region 18936 [Gene]
  • LOC129999903:ATAC-STARR-seq lymphoblastoid silent region 18940 [Gene]
  • LOC129999904:ATAC-STARR-seq lymphoblastoid silent region 18941 [Gene]
  • LOC129999906:ATAC-STARR-seq lymphoblastoid silent region 18942 [Gene]
  • LOC129999907:ATAC-STARR-seq lymphoblastoid silent region 18943 [Gene]
  • LOC129999913:ATAC-STARR-seq lymphoblastoid silent region 18944 [Gene]
  • LOC129999914:ATAC-STARR-seq lymphoblastoid silent region 18945 [Gene]
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126860301:BRD4-independent group 4 enhancer GRCh37_chr8:10938390-10939589 [Gene]
  • LOC126860276:BRD4-independent group 4 enhancer GRCh37_chr8:1580608-1581807 [Gene]
  • LOC126860280:BRD4-independent group 4 enhancer GRCh37_chr8:1854442-1855641 [Gene]
  • LOC126860282:BRD4-independent group 4 enhancer GRCh37_chr8:2053383-2054582 [Gene]
  • LOC126088091:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 1 [Gene]
  • LOC126088092:BRD4-independent group 4 enhancer GRCh37_chr8:2206168-2207367 duplicate 2 [Gene]
  • LOC126860285:BRD4-independent group 4 enhancer GRCh37_chr8:2964721-2965920 [Gene]
  • LOC126860287:BRD4-independent group 4 enhancer GRCh37_chr8:3350221-3351420 [Gene]
  • LOC126860288:BRD4-independent group 4 enhancer GRCh37_chr8:5311453-5312652 [Gene]
  • LOC126860290:BRD4-independent group 4 enhancer GRCh37_chr8:6247558-6248757 [Gene]
  • LOC126860291:BRD4-independent group 4 enhancer GRCh37_chr8:6385720-6386919 [Gene]
  • LOC126860294:BRD4-independent group 4 enhancer GRCh37_chr8:8101423-8102622 [Gene]
  • LOC126860297:BRD4-independent group 4 enhancer GRCh37_chr8:8324360-8325559 [Gene]
  • LOC126860298:BRD4-independent group 4 enhancer GRCh37_chr8:8522058-8523257 [Gene]
  • LOC126860267:BRD4-independent group 4 enhancer GRCh37_chr8:914952-916151 [Gene]
  • LOC126860300:BRD4-independent group 4 enhancer GRCh37_chr8:9240606-9241805 [Gene]
  • LOC126860268:BRD4-independent group 4 enhancer GRCh37_chr8:945571-946770 [Gene]
  • LOC126860269:BRD4-independent group 4 enhancer GRCh37_chr8:963216-964415 [Gene]
  • LOC126860270:BRD4-independent group 4 enhancer GRCh37_chr8:966834-968033 [Gene]
  • LOC126860271:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1106443-1107642 [Gene]
  • LOC126860302:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11351829-11353028 [Gene]
  • LOC126860303:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:11407118-11408317 [Gene]
  • LOC126860273:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1265413-1266612 [Gene]
  • LOC126860274:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1403885-1405084 [Gene]
  • LOC126860275:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1552920-1554119 [Gene]
  • LOC126860278:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1748222-1749421 [Gene]
  • LOC126860279:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1791725-1792924 [Gene]
  • LOC126860281:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:1870370-1871569 [Gene]
  • LOC126264116:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2049318-2050517 [Gene]
  • LOC126860283:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2362643-2363842 [Gene]
  • LOC126860284:CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:2734767-2735966 [Gene]
  • CLN8-AS1:CLN8 antisense RNA 1 [Gene - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CRE3:CRE3 CAGE-defined tissue-specific enhancer [Gene]
  • LOC128462397:CRISPRi-FlowFISH-validated BLK regulatory element GRCh37_chr8:11349255-11350515 [Gene]
  • LOC116186920:CRISPRi-validated cis-regulatory element chr8.428 [Gene]
  • LOC116186921:CRISPRi-validated cis-regulatory element chr8.429 [Gene]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • DLGAP2-AS1:DLGAP2 antisense RNA 1 [Gene - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • FAM167A-AS1:FAM167A antisense RNA 1 [Gene - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • LOC111365225:HNF4 motif-containing MPRA enhancer 121 [Gene]
  • KBTBD11-AS1:KBTBD11 antisense RNA 1 [Gene - HGNC]
  • KBTBD11-OT1:KBTBD11 overlapping transcript 1 [Gene - HGNC]
  • MCPH1-AS1:MCPH1 antisense RNA 1 [Gene - HGNC]
  • MCPH1-DT:MCPH1 divergent transcript [Gene - HGNC]
  • LOC126860286:MED14-independent group 3 enhancer GRCh37_chr8:3025942-3027141 [Gene]
  • LOC126860296:MED14-independent group 3 enhancer GRCh37_chr8:8219633-8220832 [Gene]
  • MIR124-1HG:MIR124-1 host gene [Gene - HGNC]
  • LOC129389951:MPRA-validated peak6884 silencer [Gene]
  • LOC129389952:MPRA-validated peak6885 silencer [Gene]
  • LOC129389953:MPRA-validated peak6892 silencer [Gene]
  • LOC129389954:MPRA-validated peak6897 silencer [Gene]
  • LOC129389955:MPRA-validated peak6901 silencer [Gene]
  • LOC129389956:MPRA-validated peak6905 silencer [Gene]
  • LOC132089596:Neanderthal introgressed variant-containing enhancer experimental_102978 [Gene]
  • LOC132089598:Neanderthal introgressed variant-containing enhancer experimental_103217 [Gene]
  • LOC132089602:Neanderthal introgressed variant-containing enhancer experimental_103308 [Gene]
  • LOC132089603:Neanderthal introgressed variant-containing enhancer experimental_103459 [Gene]
  • LOC132089604:Neanderthal introgressed variant-containing enhancer experimental_103492 [Gene]
  • LOC126860272:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1137192-1138391 [Gene]
  • LOC126860304:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:11424419-11425618 [Gene]
  • LOC126860277:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:1703542-1704741 [Gene]
  • LOC126860266:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:580473-581672 [Gene]
  • LOC126860289:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6170563-6171762 [Gene]
  • LOC126860292:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6456108-6457307 [Gene]
  • LOC126860293:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:6505663-6506862 [Gene]
  • LOC126860295:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:8153089-8154288 [Gene]
  • LOC126860299:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:9046079-9047278 [Gene]
  • PRAG1:PEAK1 related, kinase-activating pseudokinase 1 [Gene - OMIM - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • PINX1-DT:PINX1 divergent transcript [Gene - HGNC]
  • PPP1R3B-DT:PPP1R3B divergent transcript [Gene - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • LOC121268921:Sharpr-MPRA regulatory region 10233 [Gene]
  • LOC113788245:Sharpr-MPRA regulatory region 10445 [Gene]
  • LOC113788294:Sharpr-MPRA regulatory region 10847 [Gene]
  • LOC113788246:Sharpr-MPRA regulatory region 11637 [Gene]
  • LOC124049160:Sharpr-MPRA regulatory region 1187 [Gene]
  • LOC113788289:Sharpr-MPRA regulatory region 12268 [Gene]
  • LOC123987607:Sharpr-MPRA regulatory region 12422 [Gene]
  • LOC123987613:Sharpr-MPRA regulatory region 12768 [Gene]
  • LOC124049164:Sharpr-MPRA regulatory region 12781 [Gene]
  • LOC123987612:Sharpr-MPRA regulatory region 14576 [Gene]
  • LOC113788286:Sharpr-MPRA regulatory region 1718 [Gene]
  • LOC121740710:Sharpr-MPRA regulatory region 1846 [Gene]
  • LOC124049163:Sharpr-MPRA regulatory region 1954 [Gene]
  • LOC123987606:Sharpr-MPRA regulatory region 1960 [Gene]
  • LOC121740709:Sharpr-MPRA regulatory region 2598 [Gene]
  • LOC121268919:Sharpr-MPRA regulatory region 4717 [Gene]
  • LOC123987611:Sharpr-MPRA regulatory region 617 [Gene]
  • LOC124049158:Sharpr-MPRA regulatory region 6714 [Gene]
  • LOC123987604:Sharpr-MPRA regulatory region 700 [Gene]
  • LOC124049159:Sharpr-MPRA regulatory region 7090 [Gene]
  • LOC124049162:Sharpr-MPRA regulatory region 719 [Gene]
  • LOC123987608:Sharpr-MPRA regulatory region 746 [Gene]
  • LOC121268920:Sharpr-MPRA regulatory region 7548 [Gene]
  • LOC121740708:Sharpr-MPRA regulatory region 8503 [Gene]
  • LOC123987609:Sharpr-MPRA regulatory region 9194 [Gene]
  • LOC113788244:Sharpr-MPRA regulatory region 9232 [Gene]
  • LOC123987605:Sharpr-MPRA regulatory region 9258 [Gene]
  • LOC124049161:Sharpr-MPRA regulatory region 9732 [Gene]
  • LOC123987610:Sharpr-MPRA regulatory region 9772 [Gene]
  • TDH-AS1:TDH antisense RNA 1 [Gene - HGNC]
  • LOC110121280:VISTA enhancer hs2204 [Gene]
  • LOC110121281:VISTA enhancer hs2205 [Gene]
  • LOC114827837:VISTA enhancer hs2514 [Gene]
  • LOC110120689:VISTA enhancer hs508 [Gene]
  • XKR5:XK related 5 [Gene - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • LOC106783493:conserved acetylation island sequence 7 enhancer [Gene]
  • DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
  • DEFA1B:defensin alpha 1B [Gene - HGNC]
  • DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
  • DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
  • DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
  • DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - HGNC]
  • DEFB109B:defensin beta 109B [Gene - HGNC]
  • DEFB134:defensin beta 134 [Gene - HGNC]
  • DEFB135:defensin beta 135 [Gene - HGNC]
  • DEFB136:defensin beta 136 [Gene - HGNC]
  • DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [Gene - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • FAM66B:family with sequence similarity 66 member B [Gene - HGNC]
  • FAM66E:family with sequence similarity 66 member E [Gene - HGNC]
  • FAM85B:family with sequence similarity 85 member B [Gene - HGNC]
  • FAM87A:family with sequence similarity 87 member A [Gene - HGNC]
  • FAM90A10:family with sequence similarity 90 member A10 [Gene - OMIM - HGNC]
  • FAM90A11:family with sequence similarity 90 member A11 [Gene - HGNC]
  • FAM90A12:family with sequence similarity 90 member A12 [Gene - OMIM - HGNC]
  • FAM90A13:family with sequence similarity 90 member A13 [Gene - OMIM - HGNC]
  • FAM90A14:family with sequence similarity 90 member A14 [Gene - OMIM - HGNC]
  • FAM90A15:family with sequence similarity 90 member A15 [Gene - OMIM - HGNC]
  • FAM90A16:family with sequence similarity 90 member A16 [Gene - HGNC]
  • FAM90A17:family with sequence similarity 90 member A17 [Gene - HGNC]
  • FAM90A18:family with sequence similarity 90 member A18 [Gene - OMIM - HGNC]
  • FAM90A19:family with sequence similarity 90 member A19 [Gene - OMIM - HGNC]
  • FAM90A20:family with sequence similarity 90 member A20 [Gene - OMIM - HGNC]
  • FAM90A22:family with sequence similarity 90 member A22 [Gene - HGNC]
  • FAM90A23:family with sequence similarity 90 member A23 [Gene - HGNC]
  • FAM90A24:family with sequence similarity 90 member A24 [Gene - HGNC]
  • FAM90A3:family with sequence similarity 90 member A3 [Gene - OMIM - HGNC]
  • FAM90A5:family with sequence similarity 90 member A5 [Gene - OMIM - HGNC]
  • FAM90A7:family with sequence similarity 90 member A7 [Gene - OMIM - HGNC]
  • FAM90A8:family with sequence similarity 90 member A8 [Gene - OMIM - HGNC]
  • FAM90A9:family with sequence similarity 90 member A9 [Gene - OMIM - HGNC]
  • FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • LINC00208:long intergenic non-protein coding RNA 208 [Gene - HGNC]
  • LINC02905:long intergenic non-protein coding RNA 2905 [Gene - HGNC]
  • LINC02949:long intergenic non-protein coding RNA 2949 [Gene - HGNC]
  • LINC02950:long intergenic non-protein coding RNA 2950 [Gene - HGNC]
  • LINC03021:long intergenic non-protein coding RNA 3021 [Gene - HGNC]
  • LINC03022:long intergenic non-protein coding RNA 3022 [Gene - HGNC]
  • LINC00529:long intergenic non-protein coding RNA 529 [Gene - HGNC]
  • LINC00965:long intergenic non-protein coding RNA 965 [Gene - HGNC]
  • LOC107522030:meiotic recombination hotspot CF [Gene]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MIR1322:microRNA 1322 [Gene - HGNC]
  • MIR3674:microRNA 3674 [Gene - HGNC]
  • MIR4286:microRNA 4286 [Gene - HGNC]
  • MIR4659A:microRNA 4659a [Gene - HGNC]
  • MIR4659B:microRNA 4659b [Gene - HGNC]
  • MIR4660:microRNA 4660 [Gene - HGNC]
  • MIR548I3:microRNA 548i-3 [Gene - HGNC]
  • MIR596:microRNA 596 [Gene - HGNC]
  • MIR597:microRNA 597 [Gene - HGNC]
  • MIR598:microRNA 598 [Gene - HGNC]
  • MIR7160:microRNA 7160 [Gene - HGNC]
  • MIR8055:microRNA 8055 [Gene - HGNC]
  • MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MYOM2:myomesin 2 [Gene - OMIM - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
  • OR4F21:olfactory receptor family 4 subfamily F member 21 [Gene - HGNC]
  • PRR23D1:proline rich 23 domain containing 1 [Gene - HGNC]
  • PRR23D2:proline rich 23 domain containing 2 [Gene - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • LOC128966594:putative protein FAM90A9P [Gene]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SNORD3I:small nucleolar RNA, C/D box 3I [Gene - HGNC]
  • SNORA99:small nucleolar RNA, H/ACA box 99 [Gene - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
  • GS1-24F4.2:uncharacterized LOC100652791 [Gene]
  • LOC101927506:uncharacterized LOC101927506 [Gene]
  • LOC101928095:uncharacterized LOC101928095 [Gene]
  • LOC101929128:uncharacterized LOC101929128 [Gene]
  • LOC101929269:uncharacterized LOC101929269 [Gene]
  • LOC101929290:uncharacterized LOC101929290 [Gene]
  • LOC102723313:uncharacterized LOC102723313 [Gene]
  • LOC105377777:uncharacterized LOC105377777 [Gene]
  • LOC105377785:uncharacterized LOC105377785 [Gene]
  • LOC105377796:uncharacterized LOC105377796 [Gene]
  • LOC105379224:uncharacterized LOC105379224 [Gene]
  • LOC105379230:uncharacterized LOC105379230 [Gene]
  • LOC157273:uncharacterized LOC157273 [Gene]
  • LOC286083:uncharacterized LOC286083 [Gene]
  • LOC401442:uncharacterized LOC401442 [Gene]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
  • ZNF705B:zinc finger protein 705B [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.3-23.1
Genomic location:
Preferred name:
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3
HGVS:
  • NC_000008.11:g.(?_96310)_(12021806_?)dup
  • NC_000008.10:g.(?_46310)_(11879315_?)dup
  • NC_000008.9:g.(?_36310)_(11916724_?)dup
Links:
dbVar: nssv579062; dbVar: nsv532265
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
SCV000080963ISCA Site 6

See additional submitters

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]

Help

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 ISCA Site 6, SCV000080963.5

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

Last Updated: Dec 2, 2023