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GRCh38/hg38 17q25.3(chr17:78901959-83086677)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:
RCV000050934.5

Allele description [Variation Report for GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3]

GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3

Genes:
  • OGFOD3:2-oxoglutarate and iron dependent oxygenase domain containing 3 [Gene - HGNC]
  • ARL16:ADP ribosylation factor like GTPase 16 [Gene - OMIM - HGNC]
  • ASPSCR1:ASPSCR1 tether for SLC2A4, UBX domain containing [Gene - OMIM - HGNC]
  • LOC130061866:ATAC-STARR-seq lymphoblastoid active region 12914 [Gene]
  • LOC130061868:ATAC-STARR-seq lymphoblastoid active region 12915 [Gene]
  • LOC130061872:ATAC-STARR-seq lymphoblastoid active region 12916 [Gene]
  • LOC130061873:ATAC-STARR-seq lymphoblastoid active region 12917 [Gene]
  • LOC130061874:ATAC-STARR-seq lymphoblastoid active region 12919 [Gene]
  • LOC130061875:ATAC-STARR-seq lymphoblastoid active region 12920 [Gene]
  • LOC130061883:ATAC-STARR-seq lymphoblastoid active region 12921 [Gene]
  • LOC130061886:ATAC-STARR-seq lymphoblastoid active region 12922 [Gene]
  • LOC130061888:ATAC-STARR-seq lymphoblastoid active region 12923 [Gene]
  • LOC130061891:ATAC-STARR-seq lymphoblastoid active region 12924 [Gene]
  • LOC130061892:ATAC-STARR-seq lymphoblastoid active region 12925 [Gene]
  • LOC130061893:ATAC-STARR-seq lymphoblastoid active region 12926 [Gene]
  • LOC130061896:ATAC-STARR-seq lymphoblastoid active region 12927 [Gene]
  • LOC130061898:ATAC-STARR-seq lymphoblastoid active region 12928 [Gene]
  • LOC130061899:ATAC-STARR-seq lymphoblastoid active region 12929 [Gene]
  • LOC130061905:ATAC-STARR-seq lymphoblastoid active region 12933 [Gene]
  • LOC130061906:ATAC-STARR-seq lymphoblastoid active region 12934 [Gene]
  • LOC130061908:ATAC-STARR-seq lymphoblastoid active region 12935 [Gene]
  • LOC130061909:ATAC-STARR-seq lymphoblastoid active region 12936 [Gene]
  • LOC130061910:ATAC-STARR-seq lymphoblastoid active region 12939 [Gene]
  • LOC130061911:ATAC-STARR-seq lymphoblastoid active region 12940 [Gene]
  • LOC130061912:ATAC-STARR-seq lymphoblastoid active region 12941 [Gene]
  • LOC130061913:ATAC-STARR-seq lymphoblastoid active region 12943 [Gene]
  • LOC130061914:ATAC-STARR-seq lymphoblastoid active region 12944 [Gene]
  • LOC130061916:ATAC-STARR-seq lymphoblastoid active region 12948 [Gene]
  • LOC130061917:ATAC-STARR-seq lymphoblastoid active region 12949 [Gene]
  • LOC130061918:ATAC-STARR-seq lymphoblastoid active region 12950 [Gene]
  • LOC130061919:ATAC-STARR-seq lymphoblastoid active region 12951 [Gene]
  • LOC130061921:ATAC-STARR-seq lymphoblastoid active region 12952 [Gene]
  • LOC130061925:ATAC-STARR-seq lymphoblastoid active region 12953 [Gene]
  • LOC130061926:ATAC-STARR-seq lymphoblastoid active region 12954 [Gene]
  • LOC130061928:ATAC-STARR-seq lymphoblastoid active region 12955 [Gene]
  • LOC130061930:ATAC-STARR-seq lymphoblastoid active region 12956 [Gene]
  • LOC130061931:ATAC-STARR-seq lymphoblastoid active region 12957 [Gene]
  • LOC130061932:ATAC-STARR-seq lymphoblastoid active region 12958 [Gene]
  • LOC130061933:ATAC-STARR-seq lymphoblastoid active region 12959 [Gene]
  • LOC130061936:ATAC-STARR-seq lymphoblastoid active region 12961 [Gene]
  • LOC130061937:ATAC-STARR-seq lymphoblastoid active region 12962 [Gene]
  • LOC130061938:ATAC-STARR-seq lymphoblastoid active region 12963 [Gene]
  • LOC130061940:ATAC-STARR-seq lymphoblastoid active region 12964 [Gene]
  • LOC130061943:ATAC-STARR-seq lymphoblastoid active region 12965 [Gene]
  • LOC130061944:ATAC-STARR-seq lymphoblastoid active region 12966 [Gene]
  • LOC130061946:ATAC-STARR-seq lymphoblastoid active region 12967 [Gene]
  • LOC130061949:ATAC-STARR-seq lymphoblastoid active region 12969 [Gene]
  • LOC130061950:ATAC-STARR-seq lymphoblastoid active region 12970 [Gene]
  • LOC130061954:ATAC-STARR-seq lymphoblastoid active region 12971 [Gene]
  • LOC130061957:ATAC-STARR-seq lymphoblastoid active region 12972 [Gene]
  • LOC130061958:ATAC-STARR-seq lymphoblastoid active region 12973 [Gene]
  • LOC130061959:ATAC-STARR-seq lymphoblastoid active region 12974 [Gene]
  • LOC130061961:ATAC-STARR-seq lymphoblastoid active region 12975 [Gene]
  • LOC130061962:ATAC-STARR-seq lymphoblastoid active region 12976 [Gene]
  • LOC130061966:ATAC-STARR-seq lymphoblastoid active region 12978 [Gene]
  • LOC130061972:ATAC-STARR-seq lymphoblastoid active region 12979 [Gene]
  • LOC130061974:ATAC-STARR-seq lymphoblastoid active region 12981 [Gene]
  • LOC130061977:ATAC-STARR-seq lymphoblastoid active region 12982 [Gene]
  • LOC130061978:ATAC-STARR-seq lymphoblastoid active region 12983 [Gene]
  • LOC130061986:ATAC-STARR-seq lymphoblastoid active region 12984 [Gene]
  • LOC130061987:ATAC-STARR-seq lymphoblastoid active region 12985 [Gene]
  • LOC130062005:ATAC-STARR-seq lymphoblastoid active region 12986 [Gene]
  • LOC130062006:ATAC-STARR-seq lymphoblastoid active region 12987 [Gene]
  • LOC130062007:ATAC-STARR-seq lymphoblastoid active region 12988 [Gene]
  • LOC130062008:ATAC-STARR-seq lymphoblastoid active region 12989 [Gene]
  • LOC130062009:ATAC-STARR-seq lymphoblastoid active region 12990 [Gene]
  • LOC130062011:ATAC-STARR-seq lymphoblastoid active region 12994 [Gene]
  • LOC130062020:ATAC-STARR-seq lymphoblastoid active region 12995 [Gene]
  • LOC130062021:ATAC-STARR-seq lymphoblastoid active region 12996 [Gene]
  • LOC130062027:ATAC-STARR-seq lymphoblastoid active region 12997 [Gene]
  • LOC130062028:ATAC-STARR-seq lymphoblastoid active region 12998 [Gene]
  • LOC130062029:ATAC-STARR-seq lymphoblastoid active region 12999 [Gene]
  • LOC130062030:ATAC-STARR-seq lymphoblastoid active region 13000 [Gene]
  • LOC130062031:ATAC-STARR-seq lymphoblastoid active region 13001 [Gene]
  • LOC130062032:ATAC-STARR-seq lymphoblastoid active region 13002 [Gene]
  • LOC130062033:ATAC-STARR-seq lymphoblastoid active region 13003 [Gene]
  • LOC130062036:ATAC-STARR-seq lymphoblastoid active region 13004 [Gene]
  • LOC130062037:ATAC-STARR-seq lymphoblastoid active region 13005 [Gene]
  • LOC130062038:ATAC-STARR-seq lymphoblastoid active region 13007 [Gene]
  • LOC130062040:ATAC-STARR-seq lymphoblastoid active region 13008 [Gene]
  • LOC130062042:ATAC-STARR-seq lymphoblastoid active region 13009 [Gene]
  • LOC130062044:ATAC-STARR-seq lymphoblastoid active region 13010 [Gene]
  • LOC130062045:ATAC-STARR-seq lymphoblastoid active region 13011 [Gene]
  • LOC130062049:ATAC-STARR-seq lymphoblastoid active region 13012 [Gene]
  • LOC130062054:ATAC-STARR-seq lymphoblastoid active region 13013 [Gene]
  • LOC130062055:ATAC-STARR-seq lymphoblastoid active region 13014 [Gene]
  • LOC130062063:ATAC-STARR-seq lymphoblastoid active region 13015 [Gene]
  • LOC130062064:ATAC-STARR-seq lymphoblastoid active region 13016 [Gene]
  • LOC130062065:ATAC-STARR-seq lymphoblastoid active region 13017 [Gene]
  • LOC130061867:ATAC-STARR-seq lymphoblastoid silent region 9077 [Gene]
  • LOC130061869:ATAC-STARR-seq lymphoblastoid silent region 9078 [Gene]
  • LOC130061870:ATAC-STARR-seq lymphoblastoid silent region 9079 [Gene]
  • LOC130061871:ATAC-STARR-seq lymphoblastoid silent region 9080 [Gene]
  • LOC130061876:ATAC-STARR-seq lymphoblastoid silent region 9081 [Gene]
  • LOC130061877:ATAC-STARR-seq lymphoblastoid silent region 9082 [Gene]
  • LOC130061878:ATAC-STARR-seq lymphoblastoid silent region 9083 [Gene]
  • LOC130061879:ATAC-STARR-seq lymphoblastoid silent region 9084 [Gene]
  • LOC130061880:ATAC-STARR-seq lymphoblastoid silent region 9085 [Gene]
  • LOC130061881:ATAC-STARR-seq lymphoblastoid silent region 9087 [Gene]
  • LOC130061882:ATAC-STARR-seq lymphoblastoid silent region 9088 [Gene]
  • LOC130061884:ATAC-STARR-seq lymphoblastoid silent region 9089 [Gene]
  • LOC130061885:ATAC-STARR-seq lymphoblastoid silent region 9090 [Gene]
  • LOC130061887:ATAC-STARR-seq lymphoblastoid silent region 9092 [Gene]
  • LOC130061889:ATAC-STARR-seq lymphoblastoid silent region 9094 [Gene]
  • LOC130061890:ATAC-STARR-seq lymphoblastoid silent region 9095 [Gene]
  • LOC130061894:ATAC-STARR-seq lymphoblastoid silent region 9097 [Gene]
  • LOC130061895:ATAC-STARR-seq lymphoblastoid silent region 9098 [Gene]
  • LOC130061897:ATAC-STARR-seq lymphoblastoid silent region 9099 [Gene]
  • LOC130061900:ATAC-STARR-seq lymphoblastoid silent region 9102 [Gene]
  • LOC130061901:ATAC-STARR-seq lymphoblastoid silent region 9103 [Gene]
  • LOC130061902:ATAC-STARR-seq lymphoblastoid silent region 9104 [Gene]
  • LOC130061903:ATAC-STARR-seq lymphoblastoid silent region 9105 [Gene]
  • LOC130061904:ATAC-STARR-seq lymphoblastoid silent region 9106 [Gene]
  • LOC130061907:ATAC-STARR-seq lymphoblastoid silent region 9107 [Gene]
  • LOC130061915:ATAC-STARR-seq lymphoblastoid silent region 9110 [Gene]
  • LOC130061920:ATAC-STARR-seq lymphoblastoid silent region 9111 [Gene]
  • LOC130061922:ATAC-STARR-seq lymphoblastoid silent region 9112 [Gene]
  • LOC130061923:ATAC-STARR-seq lymphoblastoid silent region 9113 [Gene]
  • LOC130061924:ATAC-STARR-seq lymphoblastoid silent region 9114 [Gene]
  • LOC130061927:ATAC-STARR-seq lymphoblastoid silent region 9117 [Gene]
  • LOC130061929:ATAC-STARR-seq lymphoblastoid silent region 9121 [Gene]
  • LOC130061934:ATAC-STARR-seq lymphoblastoid silent region 9122 [Gene]
  • LOC130061935:ATAC-STARR-seq lymphoblastoid silent region 9123 [Gene]
  • LOC130061939:ATAC-STARR-seq lymphoblastoid silent region 9127 [Gene]
  • LOC130061941:ATAC-STARR-seq lymphoblastoid silent region 9128 [Gene]
  • LOC130061942:ATAC-STARR-seq lymphoblastoid silent region 9129 [Gene]
  • LOC130061945:ATAC-STARR-seq lymphoblastoid silent region 9130 [Gene]
  • LOC130061947:ATAC-STARR-seq lymphoblastoid silent region 9133 [Gene]
  • LOC130061948:ATAC-STARR-seq lymphoblastoid silent region 9134 [Gene]
  • LOC130061951:ATAC-STARR-seq lymphoblastoid silent region 9135 [Gene]
  • LOC130061952:ATAC-STARR-seq lymphoblastoid silent region 9136 [Gene]
  • LOC130061953:ATAC-STARR-seq lymphoblastoid silent region 9137 [Gene]
  • LOC130061955:ATAC-STARR-seq lymphoblastoid silent region 9138 [Gene]
  • LOC130061956:ATAC-STARR-seq lymphoblastoid silent region 9139 [Gene]
  • LOC130061960:ATAC-STARR-seq lymphoblastoid silent region 9140 [Gene]
  • LOC130061963:ATAC-STARR-seq lymphoblastoid silent region 9143 [Gene]
  • LOC130061964:ATAC-STARR-seq lymphoblastoid silent region 9145 [Gene]
  • LOC130061965:ATAC-STARR-seq lymphoblastoid silent region 9147 [Gene]
  • LOC130061967:ATAC-STARR-seq lymphoblastoid silent region 9148 [Gene]
  • LOC130061968:ATAC-STARR-seq lymphoblastoid silent region 9149 [Gene]
  • LOC130061969:ATAC-STARR-seq lymphoblastoid silent region 9150 [Gene]
  • LOC130061970:ATAC-STARR-seq lymphoblastoid silent region 9153 [Gene]
  • LOC130061971:ATAC-STARR-seq lymphoblastoid silent region 9154 [Gene]
  • LOC130061973:ATAC-STARR-seq lymphoblastoid silent region 9158 [Gene]
  • LOC130061975:ATAC-STARR-seq lymphoblastoid silent region 9159 [Gene]
  • LOC130061976:ATAC-STARR-seq lymphoblastoid silent region 9160 [Gene]
  • LOC130061979:ATAC-STARR-seq lymphoblastoid silent region 9161 [Gene]
  • LOC130061980:ATAC-STARR-seq lymphoblastoid silent region 9162 [Gene]
  • LOC130061981:ATAC-STARR-seq lymphoblastoid silent region 9163 [Gene]
  • LOC130061982:ATAC-STARR-seq lymphoblastoid silent region 9164 [Gene]
  • LOC130061983:ATAC-STARR-seq lymphoblastoid silent region 9165 [Gene]
  • LOC130061984:ATAC-STARR-seq lymphoblastoid silent region 9166 [Gene]
  • LOC130061985:ATAC-STARR-seq lymphoblastoid silent region 9167 [Gene]
  • LOC130061988:ATAC-STARR-seq lymphoblastoid silent region 9169 [Gene]
  • LOC130061989:ATAC-STARR-seq lymphoblastoid silent region 9170 [Gene]
  • LOC130061990:ATAC-STARR-seq lymphoblastoid silent region 9171 [Gene]
  • LOC130061991:ATAC-STARR-seq lymphoblastoid silent region 9172 [Gene]
  • LOC130061992:ATAC-STARR-seq lymphoblastoid silent region 9175 [Gene]
  • LOC130061993:ATAC-STARR-seq lymphoblastoid silent region 9177 [Gene]
  • LOC130061994:ATAC-STARR-seq lymphoblastoid silent region 9180 [Gene]
  • LOC130061995:ATAC-STARR-seq lymphoblastoid silent region 9181 [Gene]
  • LOC130061996:ATAC-STARR-seq lymphoblastoid silent region 9182 [Gene]
  • LOC130061997:ATAC-STARR-seq lymphoblastoid silent region 9183 [Gene]
  • LOC130061998:ATAC-STARR-seq lymphoblastoid silent region 9184 [Gene]
  • LOC130061999:ATAC-STARR-seq lymphoblastoid silent region 9188 [Gene]
  • LOC130062000:ATAC-STARR-seq lymphoblastoid silent region 9189 [Gene]
  • LOC130062001:ATAC-STARR-seq lymphoblastoid silent region 9190 [Gene]
  • LOC130062002:ATAC-STARR-seq lymphoblastoid silent region 9192 [Gene]
  • LOC130062003:ATAC-STARR-seq lymphoblastoid silent region 9193 [Gene]
  • LOC130062004:ATAC-STARR-seq lymphoblastoid silent region 9194 [Gene]
  • LOC130062010:ATAC-STARR-seq lymphoblastoid silent region 9195 [Gene]
  • LOC130062012:ATAC-STARR-seq lymphoblastoid silent region 9196 [Gene]
  • LOC130062013:ATAC-STARR-seq lymphoblastoid silent region 9197 [Gene]
  • LOC130062014:ATAC-STARR-seq lymphoblastoid silent region 9198 [Gene]
  • LOC130062015:ATAC-STARR-seq lymphoblastoid silent region 9199 [Gene]
  • LOC130062016:ATAC-STARR-seq lymphoblastoid silent region 9200 [Gene]
  • LOC130062017:ATAC-STARR-seq lymphoblastoid silent region 9201 [Gene]
  • LOC130062018:ATAC-STARR-seq lymphoblastoid silent region 9202 [Gene]
  • LOC130062019:ATAC-STARR-seq lymphoblastoid silent region 9203 [Gene]
  • LOC130062022:ATAC-STARR-seq lymphoblastoid silent region 9204 [Gene]
  • LOC130062023:ATAC-STARR-seq lymphoblastoid silent region 9205 [Gene]
  • LOC130062024:ATAC-STARR-seq lymphoblastoid silent region 9206 [Gene]
  • LOC130062025:ATAC-STARR-seq lymphoblastoid silent region 9207 [Gene]
  • LOC130062026:ATAC-STARR-seq lymphoblastoid silent region 9208 [Gene]
  • LOC130062034:ATAC-STARR-seq lymphoblastoid silent region 9209 [Gene]
  • LOC130062035:ATAC-STARR-seq lymphoblastoid silent region 9210 [Gene]
  • LOC130062039:ATAC-STARR-seq lymphoblastoid silent region 9211 [Gene]
  • LOC130062041:ATAC-STARR-seq lymphoblastoid silent region 9212 [Gene]
  • LOC130062043:ATAC-STARR-seq lymphoblastoid silent region 9213 [Gene]
  • LOC130062046:ATAC-STARR-seq lymphoblastoid silent region 9216 [Gene]
  • LOC130062047:ATAC-STARR-seq lymphoblastoid silent region 9217 [Gene]
  • LOC130062048:ATAC-STARR-seq lymphoblastoid silent region 9218 [Gene]
  • LOC130062050:ATAC-STARR-seq lymphoblastoid silent region 9219 [Gene]
  • LOC130062051:ATAC-STARR-seq lymphoblastoid silent region 9220 [Gene]
  • LOC130062052:ATAC-STARR-seq lymphoblastoid silent region 9221 [Gene]
  • LOC130062053:ATAC-STARR-seq lymphoblastoid silent region 9222 [Gene]
  • LOC130062056:ATAC-STARR-seq lymphoblastoid silent region 9223 [Gene]
  • LOC130062057:ATAC-STARR-seq lymphoblastoid silent region 9224 [Gene]
  • LOC130062058:ATAC-STARR-seq lymphoblastoid silent region 9225 [Gene]
  • LOC130062059:ATAC-STARR-seq lymphoblastoid silent region 9226 [Gene]
  • LOC130062060:ATAC-STARR-seq lymphoblastoid silent region 9227 [Gene]
  • LOC130062061:ATAC-STARR-seq lymphoblastoid silent region 9228 [Gene]
  • LOC130062062:ATAC-STARR-seq lymphoblastoid silent region 9229 [Gene]
  • LOC130062066:ATAC-STARR-seq lymphoblastoid silent region 9230 [Gene]
  • LOC130062067:ATAC-STARR-seq lymphoblastoid silent region 9232 [Gene]
  • ALYREF:Aly/REF export factor [Gene - OMIM - HGNC]
  • BAHCC1:BAH domain and coiled-coil containing 1 [Gene - OMIM - HGNC]
  • BAIAP2-DT:BAIAP2 divergent transcript [Gene - HGNC]
  • BAIAP2:BAR/IMD domain containing adaptor protein 2 [Gene - OMIM - HGNC]
  • LOC126862659:BRD4-independent group 4 enhancer GRCh37_chr17:77824032-77825231 [Gene]
  • LOC126862660:BRD4-independent group 4 enhancer GRCh37_chr17:77966696-77967895 [Gene]
  • LOC126862661:BRD4-independent group 4 enhancer GRCh37_chr17:78151904-78153103 [Gene]
  • LOC126862663:BRD4-independent group 4 enhancer GRCh37_chr17:78345568-78346767 [Gene]
  • LOC126862666:BRD4-independent group 4 enhancer GRCh37_chr17:78694608-78695807 [Gene]
  • LOC112533678:BRD4-independent group 4 enhancer GRCh37_chr17:78829770-78830969 [Gene]
  • LOC126862670:BRD4-independent group 4 enhancer GRCh37_chr17:80210177-80211376 [Gene]
  • C1QTNF1-AS1:C1QTNF1 antisense RNA 1 [Gene - HGNC]
  • C1QTNF1:C1q and TNF related 1 [Gene - OMIM - HGNC]
  • CD7:CD7 molecule [Gene - OMIM - HGNC]
  • LOC126862658:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:77042736-77043935 [Gene]
  • LOC126862664:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:78359110-78360309 [Gene]
  • LOC126862667:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:78734834-78736033 [Gene]
  • LOC126862668:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:79846281-79847480 [Gene]
  • LOC126862671:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80660456-80661655 [Gene]
  • LOC126862673:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80877734-80878933 [Gene]
  • LOC126862674:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:80935960-80937159 [Gene]
  • CEP295NL:CEP295 N-terminal like [Gene - HGNC]
  • LOC116276483:CRISPRi-validated cis-regulatory element chr17.5742 [Gene]
  • LOC116276484:CRISPRi-validated cis-regulatory element chr17.5937 [Gene]
  • LOC116276485:CRISPRi-validated cis-regulatory element chr17.6006 [Gene]
  • LOC108254691:CSNK1D-CD7 intergenic CAGE-defined low expression enhancer [Gene]
  • DCXR-DT:DCXR divergent transcript [Gene - HGNC]
  • FAAP100:FA core complex associated protein 100 [Gene - OMIM - HGNC]
  • GPS1:G protein pathway suppressor 1 [Gene - OMIM - HGNC]
  • HEXD-IT1:HEXD intronic transcript 1 [Gene - HGNC]
  • MAFG:MAF bZIP transcription factor G [Gene - OMIM - HGNC]
  • MAFG-AS1:MAFG antisense RNA 1 [Gene - HGNC]
  • MCRIP1:MAPK regulated corepressor interacting protein 1 [Gene - OMIM - HGNC]
  • LOC126862662:MED14-independent group 3 enhancer GRCh37_chr17:78178385-78179584 [Gene]
  • LOC126862665:MED14-independent group 3 enhancer GRCh37_chr17:78667505-78668704 [Gene]
  • LOC126862669:MED14-independent group 3 enhancer GRCh37_chr17:79880785-79881984 [Gene]
  • LOC126862672:MED14-independent group 3 enhancer GRCh37_chr17:80833329-80834528 [Gene]
  • LOC129390945:MPRA-validated peak3024 silencer [Gene]
  • LOC129390946:MPRA-validated peak3025 silencer [Gene]
  • LOC129390947:MPRA-validated peak3026 silencer [Gene]
  • LOC129390948:MPRA-validated peak3028 silencer [Gene]
  • LOC129390949:MPRA-validated peak3032 silencer [Gene]
  • LOC129390950:MPRA-validated peak3033 silencer [Gene]
  • MILIP:MYC inducible lncRNA inactivating p53 [Gene - HGNC]
  • SGSH:N-sulfoglucosamine sulfohydrolase [Gene - OMIM - HGNC]
  • NDUFAF8:NADH:ubiquinone oxidoreductase complex assembly factor 8 [Gene - OMIM - HGNC]
  • NARF-AS2:NARF antisense RNA 2 [Gene - HGNC]
  • NPLOC4:NPL4 homolog, ubiquitin recognition factor [Gene - OMIM - HGNC]
  • LOC132090896:Neanderthal introgressed variant-containing enhancer experimental_47566 [Gene]
  • LOC132090482:Neanderthal introgressed variant-containing enhancer experimental_47575 [Gene]
  • RAB40B:RAB40B, member RAS oncogene family [Gene - OMIM - HGNC]
  • RFNG:RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • RBFOX3:RNA binding fox-1 homolog 3 [Gene - OMIM - HGNC]
  • RNF213-AS1:RNF213 antisense RNA 1 [Gene - HGNC]
  • RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
  • ARHGDIA:Rho GDP dissociation inhibitor alpha [Gene - OMIM - HGNC]
  • LOC108281162:SLC26A11-RNF213 intergenic CAGE-defined mid-level expression enhancer [Gene]
  • LOC125316818:Sharpr-MPRA regulatory region 10297 [Gene]
  • LOC121852955:Sharpr-MPRA regulatory region 10385 [Gene]
  • LOC125316813:Sharpr-MPRA regulatory region 1160 [Gene]
  • LOC112533680:Sharpr-MPRA regulatory region 11647 [Gene]
  • LOC125316814:Sharpr-MPRA regulatory region 11657 [Gene]
  • LOC125316815:Sharpr-MPRA regulatory region 13761 [Gene]
  • LOC112533681:Sharpr-MPRA regulatory region 13823 [Gene]
  • LOC121852954:Sharpr-MPRA regulatory region 13982 [Gene]
  • LOC112533686:Sharpr-MPRA regulatory region 14342 [Gene]
  • LOC125316808:Sharpr-MPRA regulatory region 14803 [Gene]
  • LOC125316823:Sharpr-MPRA regulatory region 15512 [Gene]
  • LOC125316809:Sharpr-MPRA regulatory region 202 [Gene]
  • LOC121627818:Sharpr-MPRA regulatory region 3125 [Gene]
  • LOC121627819:Sharpr-MPRA regulatory region 3542 [Gene]
  • LOC125316811:Sharpr-MPRA regulatory region 4093 [Gene]
  • LOC112533682:Sharpr-MPRA regulatory region 4607 [Gene]
  • LOC121627820:Sharpr-MPRA regulatory region 4733 [Gene]
  • LOC121627816:Sharpr-MPRA regulatory region 4769 [Gene]
  • LOC125316810:Sharpr-MPRA regulatory region 5287 [Gene]
  • LOC112533676:Sharpr-MPRA regulatory region 5335 [Gene]
  • LOC125316821:Sharpr-MPRA regulatory region 5709 [Gene]
  • LOC112533687:Sharpr-MPRA regulatory region 591 [Gene]
  • LOC121627817:Sharpr-MPRA regulatory region 5922 [Gene]
  • LOC121852953:Sharpr-MPRA regulatory region 6708 [Gene]
  • LOC125316812:Sharpr-MPRA regulatory region 6979 [Gene]
  • LOC121852957:Sharpr-MPRA regulatory region 7018 [Gene]
  • LOC125316822:Sharpr-MPRA regulatory region 7485 [Gene]
  • LOC112533679:Sharpr-MPRA regulatory region 8367 [Gene]
  • LOC112533677:Sharpr-MPRA regulatory region 9091 [Gene]
  • LOC125316817:Sharpr-MPRA regulatory region 9355 [Gene]
  • LOC125316816:Sharpr-MPRA regulatory region 9433 [Gene]
  • LOC121852956:Sharpr-MPRA regulatory region 9641 [Gene]
  • LOC125316819:Sharpr-MPRA regulatory region 9771 [Gene]
  • TBC1D16:TBC1 domain family member 16 [Gene - OMIM - HGNC]
  • LOC108348028:TBCD intron CAGE-defined B cell enhancer [Gene]
  • TEPSIN:TEPSIN adaptor related protein complex 4 accessory protein [Gene - HGNC]
  • TIMP2:TIMP metallopeptidase inhibitor 2 [Gene - OMIM - HGNC]
  • TMEM105:TMEM105 long non-coding RNA [Gene - HGNC]
  • B3GNTL1:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1 [Gene - OMIM - HGNC]
  • WDR45B:WD repeat domain 45B [Gene - OMIM - HGNC]
  • ACTG1:actin gamma 1 [Gene - OMIM - HGNC]
  • GAA:alpha glucosidase [Gene - OMIM - HGNC]
  • ANAPC11:anaphase promoting complex subunit 11 [Gene - OMIM - HGNC]
  • AATK:apoptosis associated tyrosine kinase [Gene - OMIM - HGNC]
  • CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]
  • CSNK1D:casein kinase 1 delta [Gene - OMIM - HGNC]
  • CARD14:caspase recruitment domain family member 14 [Gene - OMIM - HGNC]
  • CENPX:centromere protein X [Gene - OMIM - HGNC]
  • CEP131:centrosomal protein 131 [Gene - OMIM - HGNC]
  • CHMP6:charged multivesicular body protein 6 [Gene - OMIM - HGNC]
  • CBX2:chromobox 2 [Gene - OMIM - HGNC]
  • CBX4:chromobox 4 [Gene - OMIM - HGNC]
  • CBX8:chromobox 8 [Gene - OMIM - HGNC]
  • CCDC137:coiled-coil domain containing 137 [Gene - OMIM - HGNC]
  • CCDC40:coiled-coil domain containing 40 [Gene - OMIM - HGNC]
  • CCDC57:coiled-coil domain containing 57 [Gene - HGNC]
  • CYBC1:cytochrome b-245 chaperone 1 [Gene - OMIM - HGNC]
  • DCXR:dicarbonyl and L-xylulose reductase [Gene - OMIM - HGNC]
  • DUS1L:dihydrouridine synthase 1 like [Gene - HGNC]
  • ENPP7:ectonucleotide pyrophosphatase/phosphodiesterase 7 [Gene - OMIM - HGNC]
  • ENGASE:endo-beta-N-acetylglucosaminidase [Gene - OMIM - HGNC]
  • ENDOV:endonuclease V [Gene - OMIM - HGNC]
  • EIF4A3:eukaryotic translation initiation factor 4A3 [Gene - OMIM - HGNC]
  • FSCN2:fascin actin-bundling protein 2, retinal [Gene - OMIM - HGNC]
  • FASN:fatty acid synthase [Gene - OMIM - HGNC]
  • FOXK2:forkhead box K2 [Gene - OMIM - HGNC]
  • FN3KRP:fructosamine 3 kinase related protein [Gene - OMIM - HGNC]
  • FN3K:fructosamine 3 kinase [Gene - OMIM - HGNC]
  • LGALS3BP:galectin 3 binding protein [Gene - OMIM - HGNC]
  • GCGR:glucagon receptor [Gene - OMIM - HGNC]
  • HGS:hepatocyte growth factor-regulated tyrosine kinase substrate [Gene - OMIM - HGNC]
  • HEXD:hexosaminidase D [Gene - OMIM - HGNC]
  • LRRC45:leucine rich repeat containing 45 [Gene - HGNC]
  • LINC01970:long intergenic non-protein coding RNA 1970 [Gene - HGNC]
  • LINC01971:long intergenic non-protein coding RNA 1971 [Gene - HGNC]
  • LINC01977:long intergenic non-protein coding RNA 1977 [Gene - HGNC]
  • LINC01978:long intergenic non-protein coding RNA 1978 [Gene - HGNC]
  • LINC01979:long intergenic non-protein coding RNA 1979 [Gene - HGNC]
  • LINC02078:long intergenic non-protein coding RNA 2078 [Gene - HGNC]
  • LINC03048:long intergenic non-protein coding RNA 3048 [Gene - HGNC]
  • LINC00482:long intergenic non-protein coding RNA 482 [Gene - HGNC]
  • METRNL:meteorin like, glial cell differentiation regulator [Gene - OMIM - HGNC]
  • MIR1250:microRNA 1250 [Gene - HGNC]
  • MIR1268B:microRNA 1268b [Gene - HGNC]
  • MIR3065:microRNA 3065 [Gene - HGNC]
  • MIR3186:microRNA 3186 [Gene - HGNC]
  • MIR338:microRNA 338 [Gene - OMIM - HGNC]
  • MIR4525:microRNA 4525 [Gene - HGNC]
  • MIR4730:microRNA 4730 [Gene - HGNC]
  • MIR4739:microRNA 4739 [Gene - HGNC]
  • MIR4740:microRNA 4740 [Gene - HGNC]
  • MIR657:microRNA 657 [Gene - HGNC]
  • MIR6786:microRNA 6786 [Gene - HGNC]
  • MIR6787:microRNA 6787 [Gene - HGNC]
  • MRPL12:mitochondrial ribosomal protein L12 [Gene - OMIM - HGNC]
  • MYADML2:myeloid associated differentiation marker like 2 [Gene - HGNC]
  • NPTX1:neuronal pentraxin 1 [Gene - OMIM - HGNC]
  • NPB:neuropeptide B [Gene - OMIM - HGNC]
  • NOTUM:notum, palmitoleoyl-protein carboxylesterase [Gene - OMIM - HGNC]
  • NARF:nuclear prelamin A recognition factor [Gene - OMIM - HGNC]
  • OXLD1:oxidoreductase like domain containing 1 [Gene - HGNC]
  • PVALEF:parvalbumin like EF-hand containing [Gene - HGNC]
  • PCYT2:phosphate cytidylyltransferase 2, ethanolamine [Gene - OMIM - HGNC]
  • PDE6G:phosphodiesterase 6G [Gene - OMIM - HGNC]
  • P4HB:prolyl 4-hydroxylase subunit beta [Gene - OMIM - HGNC]
  • PPP1R27:protein phosphatase 1 regulatory subunit 27 [Gene - HGNC]
  • PYCR1:pyrroline-5-carboxylate reductase 1 [Gene - OMIM - HGNC]
  • RENO1:regulator of early neurogenesis 1 [Gene - HGNC]
  • RPTOR:regulatory associated protein of MTOR complex 1 [Gene - OMIM - HGNC]
  • RNF213:ring finger protein 213 [Gene - OMIM - HGNC]
  • SECTM1:secreted and transmembrane 1 [Gene - OMIM - HGNC]
  • SIRT7:sirtuin 7 [Gene - OMIM - HGNC]
  • SNORD134:small nucleolar RNA, C/D box 134 [Gene - HGNC]
  • SLC16A3:solute carrier family 16 member 3 [Gene - OMIM - HGNC]
  • SLC25A10:solute carrier family 25 member 10 [Gene - OMIM - HGNC]
  • SLC26A11:solute carrier family 26 member 11 [Gene - OMIM - HGNC]
  • SLC38A10:solute carrier family 38 member 10 [Gene - OMIM - HGNC]
  • TRX-CAT1-8:tRNA-iMet (anticodon CAT) 1-8 [Gene - HGNC]
  • TEX19:testis expressed 19 [Gene - OMIM - HGNC]
  • TSPAN10:tetraspanin 10 [Gene - HGNC]
  • TBCD:tubulin folding cofactor D [Gene - OMIM - HGNC]
  • LOC101928855:uncharacterized LOC101928855 [Gene]
  • LOC101929552:uncharacterized LOC101929552 [Gene]
  • LOC105371925:uncharacterized LOC105371925 [Gene]
  • LOC400627:uncharacterized LOC400627 [Gene]
  • UTS2R:urotensin 2 receptor [Gene - OMIM - HGNC]
  • ZNF750:zinc finger protein 750 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3
HGVS:
  • NC_000017.11:g.(?_78901959)_(83086677_?)dup
  • NC_000017.10:g.(?_76898041)_(81044553_?)dup
  • NC_000017.9:g.(?_74409636)_(78637842_?)dup
Links:
dbVar: nssv578750; dbVar: nsv529509
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
SCV000078268ISCA site 4

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 4, SCV000078268.5

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

Last Updated: Oct 14, 2023