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GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 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:
RCV000051103.6

Allele description [Variation Report for GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1]

GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1

Genes:
  • ADAM12:ADAM metallopeptidase domain 12 [Gene - OMIM - HGNC]
  • ADAM8:ADAM metallopeptidase domain 8 [Gene - OMIM - HGNC]
  • ADGRA1-AS1:ADGRA1 antisense RNA 1 [Gene - HGNC]
  • LOC130004863:ATAC-STARR-seq lymphoblastoid active region 4135 [Gene]
  • LOC130004865:ATAC-STARR-seq lymphoblastoid active region 4140 [Gene]
  • LOC130004866:ATAC-STARR-seq lymphoblastoid active region 4141 [Gene]
  • LOC130004867:ATAC-STARR-seq lymphoblastoid active region 4142 [Gene]
  • LOC130004874:ATAC-STARR-seq lymphoblastoid active region 4143 [Gene]
  • LOC130004875:ATAC-STARR-seq lymphoblastoid active region 4144 [Gene]
  • LOC130004876:ATAC-STARR-seq lymphoblastoid active region 4145 [Gene]
  • LOC130004877:ATAC-STARR-seq lymphoblastoid active region 4146 [Gene]
  • LOC130004882:ATAC-STARR-seq lymphoblastoid active region 4147 [Gene]
  • LOC130004883:ATAC-STARR-seq lymphoblastoid active region 4148 [Gene]
  • LOC130004884:ATAC-STARR-seq lymphoblastoid active region 4149 [Gene]
  • LOC130004885:ATAC-STARR-seq lymphoblastoid active region 4151 [Gene]
  • LOC130004886:ATAC-STARR-seq lymphoblastoid active region 4152 [Gene]
  • LOC130004887:ATAC-STARR-seq lymphoblastoid active region 4153 [Gene]
  • LOC130004889:ATAC-STARR-seq lymphoblastoid active region 4154 [Gene]
  • LOC130004890:ATAC-STARR-seq lymphoblastoid active region 4155 [Gene]
  • LOC130004891:ATAC-STARR-seq lymphoblastoid active region 4156 [Gene]
  • LOC130004892:ATAC-STARR-seq lymphoblastoid active region 4157 [Gene]
  • LOC130004893:ATAC-STARR-seq lymphoblastoid active region 4158 [Gene]
  • LOC130004894:ATAC-STARR-seq lymphoblastoid active region 4159 [Gene]
  • LOC130004895:ATAC-STARR-seq lymphoblastoid active region 4160 [Gene]
  • LOC130004896:ATAC-STARR-seq lymphoblastoid active region 4161 [Gene]
  • LOC130004898:ATAC-STARR-seq lymphoblastoid active region 4162 [Gene]
  • LOC130004899:ATAC-STARR-seq lymphoblastoid active region 4163 [Gene]
  • LOC130004901:ATAC-STARR-seq lymphoblastoid active region 4164 [Gene]
  • LOC130004902:ATAC-STARR-seq lymphoblastoid active region 4165 [Gene]
  • LOC130004905:ATAC-STARR-seq lymphoblastoid active region 4166 [Gene]
  • LOC130004907:ATAC-STARR-seq lymphoblastoid active region 4167 [Gene]
  • LOC130004908:ATAC-STARR-seq lymphoblastoid active region 4168 [Gene]
  • LOC130004909:ATAC-STARR-seq lymphoblastoid active region 4169 [Gene]
  • LOC130004910:ATAC-STARR-seq lymphoblastoid active region 4170 [Gene]
  • LOC130004911:ATAC-STARR-seq lymphoblastoid active region 4171 [Gene]
  • LOC130004912:ATAC-STARR-seq lymphoblastoid active region 4173 [Gene]
  • LOC130004914:ATAC-STARR-seq lymphoblastoid active region 4174 [Gene]
  • LOC130004915:ATAC-STARR-seq lymphoblastoid active region 4175 [Gene]
  • LOC130004916:ATAC-STARR-seq lymphoblastoid active region 4176 [Gene]
  • LOC130004917:ATAC-STARR-seq lymphoblastoid active region 4177 [Gene]
  • LOC130004918:ATAC-STARR-seq lymphoblastoid active region 4178 [Gene]
  • LOC130004919:ATAC-STARR-seq lymphoblastoid active region 4179 [Gene]
  • LOC130004920:ATAC-STARR-seq lymphoblastoid active region 4180 [Gene]
  • LOC130004921:ATAC-STARR-seq lymphoblastoid active region 4181 [Gene]
  • LOC130004922:ATAC-STARR-seq lymphoblastoid active region 4182 [Gene]
  • LOC130004923:ATAC-STARR-seq lymphoblastoid active region 4183 [Gene]
  • LOC130004924:ATAC-STARR-seq lymphoblastoid active region 4184 [Gene]
  • LOC130004931:ATAC-STARR-seq lymphoblastoid active region 4185 [Gene]
  • LOC130004934:ATAC-STARR-seq lymphoblastoid active region 4188 [Gene]
  • LOC130004935:ATAC-STARR-seq lymphoblastoid active region 4189 [Gene]
  • LOC130004936:ATAC-STARR-seq lymphoblastoid active region 4191 [Gene]
  • LOC130004938:ATAC-STARR-seq lymphoblastoid active region 4192 [Gene]
  • LOC130004939:ATAC-STARR-seq lymphoblastoid active region 4193 [Gene]
  • LOC130004940:ATAC-STARR-seq lymphoblastoid active region 4194 [Gene]
  • LOC130004946:ATAC-STARR-seq lymphoblastoid active region 4196 [Gene]
  • LOC130004949:ATAC-STARR-seq lymphoblastoid active region 4197 [Gene]
  • LOC130004950:ATAC-STARR-seq lymphoblastoid active region 4198 [Gene]
  • LOC130004952:ATAC-STARR-seq lymphoblastoid active region 4201 [Gene]
  • LOC130004957:ATAC-STARR-seq lymphoblastoid active region 4203 [Gene]
  • LOC130004958:ATAC-STARR-seq lymphoblastoid active region 4204 [Gene]
  • LOC130004961:ATAC-STARR-seq lymphoblastoid active region 4205 [Gene]
  • LOC130004962:ATAC-STARR-seq lymphoblastoid active region 4206 [Gene]
  • LOC130004963:ATAC-STARR-seq lymphoblastoid active region 4207 [Gene]
  • LOC130004965:ATAC-STARR-seq lymphoblastoid active region 4208 [Gene]
  • LOC130004966:ATAC-STARR-seq lymphoblastoid active region 4209 [Gene]
  • LOC130004968:ATAC-STARR-seq lymphoblastoid active region 4210 [Gene]
  • LOC130004969:ATAC-STARR-seq lymphoblastoid active region 4211 [Gene]
  • LOC130004970:ATAC-STARR-seq lymphoblastoid active region 4212 [Gene]
  • LOC130004971:ATAC-STARR-seq lymphoblastoid active region 4213 [Gene]
  • LOC130004973:ATAC-STARR-seq lymphoblastoid active region 4217 [Gene]
  • LOC130004975:ATAC-STARR-seq lymphoblastoid active region 4218 [Gene]
  • LOC130004976:ATAC-STARR-seq lymphoblastoid active region 4219 [Gene]
  • LOC130004977:ATAC-STARR-seq lymphoblastoid active region 4220 [Gene]
  • LOC130004983:ATAC-STARR-seq lymphoblastoid active region 4222 [Gene]
  • LOC130004985:ATAC-STARR-seq lymphoblastoid active region 4223 [Gene]
  • LOC130004987:ATAC-STARR-seq lymphoblastoid active region 4224 [Gene]
  • LOC130004997:ATAC-STARR-seq lymphoblastoid active region 4225 [Gene]
  • LOC130005001:ATAC-STARR-seq lymphoblastoid active region 4226 [Gene]
  • LOC130005002:ATAC-STARR-seq lymphoblastoid active region 4229 [Gene]
  • LOC130005003:ATAC-STARR-seq lymphoblastoid active region 4230 [Gene]
  • LOC130005004:ATAC-STARR-seq lymphoblastoid active region 4234 [Gene]
  • LOC130005005:ATAC-STARR-seq lymphoblastoid active region 4235 [Gene]
  • LOC130005006:ATAC-STARR-seq lymphoblastoid active region 4236 [Gene]
  • LOC130005007:ATAC-STARR-seq lymphoblastoid active region 4237 [Gene]
  • LOC130005009:ATAC-STARR-seq lymphoblastoid active region 4238 [Gene]
  • LOC130005010:ATAC-STARR-seq lymphoblastoid active region 4239 [Gene]
  • LOC130005012:ATAC-STARR-seq lymphoblastoid active region 4240 [Gene]
  • LOC130005013:ATAC-STARR-seq lymphoblastoid active region 4241 [Gene]
  • LOC130005014:ATAC-STARR-seq lymphoblastoid active region 4242 [Gene]
  • LOC130005015:ATAC-STARR-seq lymphoblastoid active region 4243 [Gene]
  • LOC130005016:ATAC-STARR-seq lymphoblastoid active region 4244 [Gene]
  • LOC130005017:ATAC-STARR-seq lymphoblastoid active region 4245 [Gene]
  • LOC130005019:ATAC-STARR-seq lymphoblastoid active region 4246 [Gene]
  • LOC130005020:ATAC-STARR-seq lymphoblastoid active region 4247 [Gene]
  • LOC130005024:ATAC-STARR-seq lymphoblastoid active region 4248 [Gene]
  • LOC130005030:ATAC-STARR-seq lymphoblastoid active region 4250 [Gene]
  • LOC130005031:ATAC-STARR-seq lymphoblastoid active region 4251 [Gene]
  • LOC130005032:ATAC-STARR-seq lymphoblastoid active region 4252 [Gene]
  • LOC130005033:ATAC-STARR-seq lymphoblastoid active region 4253 [Gene]
  • LOC130005034:ATAC-STARR-seq lymphoblastoid active region 4254 [Gene]
  • LOC130004864:ATAC-STARR-seq lymphoblastoid silent region 2885 [Gene]
  • LOC130004868:ATAC-STARR-seq lymphoblastoid silent region 2889 [Gene]
  • LOC130004869:ATAC-STARR-seq lymphoblastoid silent region 2890 [Gene]
  • LOC130004870:ATAC-STARR-seq lymphoblastoid silent region 2891 [Gene]
  • LOC130004871:ATAC-STARR-seq lymphoblastoid silent region 2892 [Gene]
  • LOC130004872:ATAC-STARR-seq lymphoblastoid silent region 2893 [Gene]
  • LOC130004873:ATAC-STARR-seq lymphoblastoid silent region 2894 [Gene]
  • LOC130004878:ATAC-STARR-seq lymphoblastoid silent region 2895 [Gene]
  • LOC130004879:ATAC-STARR-seq lymphoblastoid silent region 2900 [Gene]
  • LOC130004880:ATAC-STARR-seq lymphoblastoid silent region 2902 [Gene]
  • LOC130004881:ATAC-STARR-seq lymphoblastoid silent region 2903 [Gene]
  • LOC130004888:ATAC-STARR-seq lymphoblastoid silent region 2904 [Gene]
  • LOC130004897:ATAC-STARR-seq lymphoblastoid silent region 2906 [Gene]
  • LOC130004900:ATAC-STARR-seq lymphoblastoid silent region 2907 [Gene]
  • LOC130004903:ATAC-STARR-seq lymphoblastoid silent region 2908 [Gene]
  • LOC130004904:ATAC-STARR-seq lymphoblastoid silent region 2910 [Gene]
  • LOC130004906:ATAC-STARR-seq lymphoblastoid silent region 2911 [Gene]
  • LOC130004913:ATAC-STARR-seq lymphoblastoid silent region 2912 [Gene]
  • LOC130004925:ATAC-STARR-seq lymphoblastoid silent region 2913 [Gene]
  • LOC130004926:ATAC-STARR-seq lymphoblastoid silent region 2914 [Gene]
  • LOC130004927:ATAC-STARR-seq lymphoblastoid silent region 2915 [Gene]
  • LOC130004928:ATAC-STARR-seq lymphoblastoid silent region 2916 [Gene]
  • LOC130004929:ATAC-STARR-seq lymphoblastoid silent region 2917 [Gene]
  • LOC130004930:ATAC-STARR-seq lymphoblastoid silent region 2918 [Gene]
  • LOC130004932:ATAC-STARR-seq lymphoblastoid silent region 2921 [Gene]
  • LOC130004933:ATAC-STARR-seq lymphoblastoid silent region 2922 [Gene]
  • LOC130004937:ATAC-STARR-seq lymphoblastoid silent region 2923 [Gene]
  • LOC130004941:ATAC-STARR-seq lymphoblastoid silent region 2924 [Gene]
  • LOC130004942:ATAC-STARR-seq lymphoblastoid silent region 2926 [Gene]
  • LOC130004943:ATAC-STARR-seq lymphoblastoid silent region 2927 [Gene]
  • LOC130004944:ATAC-STARR-seq lymphoblastoid silent region 2928 [Gene]
  • LOC130004945:ATAC-STARR-seq lymphoblastoid silent region 2929 [Gene]
  • LOC130004947:ATAC-STARR-seq lymphoblastoid silent region 2930 [Gene]
  • LOC130004948:ATAC-STARR-seq lymphoblastoid silent region 2931 [Gene]
  • LOC130004951:ATAC-STARR-seq lymphoblastoid silent region 2932 [Gene]
  • LOC130004953:ATAC-STARR-seq lymphoblastoid silent region 2933 [Gene]
  • LOC130004954:ATAC-STARR-seq lymphoblastoid silent region 2934 [Gene]
  • LOC130004955:ATAC-STARR-seq lymphoblastoid silent region 2935 [Gene]
  • LOC130004956:ATAC-STARR-seq lymphoblastoid silent region 2936 [Gene]
  • LOC130004959:ATAC-STARR-seq lymphoblastoid silent region 2939 [Gene]
  • LOC130004960:ATAC-STARR-seq lymphoblastoid silent region 2940 [Gene]
  • LOC130004964:ATAC-STARR-seq lymphoblastoid silent region 2941 [Gene]
  • LOC130004967:ATAC-STARR-seq lymphoblastoid silent region 2942 [Gene]
  • LOC130004972:ATAC-STARR-seq lymphoblastoid silent region 2944 [Gene]
  • LOC130004974:ATAC-STARR-seq lymphoblastoid silent region 2945 [Gene]
  • LOC130004978:ATAC-STARR-seq lymphoblastoid silent region 2946 [Gene]
  • LOC130004979:ATAC-STARR-seq lymphoblastoid silent region 2947 [Gene]
  • LOC130004980:ATAC-STARR-seq lymphoblastoid silent region 2948 [Gene]
  • LOC130004981:ATAC-STARR-seq lymphoblastoid silent region 2951 [Gene]
  • LOC130004982:ATAC-STARR-seq lymphoblastoid silent region 2952 [Gene]
  • LOC130004984:ATAC-STARR-seq lymphoblastoid silent region 2953 [Gene]
  • LOC130004986:ATAC-STARR-seq lymphoblastoid silent region 2955 [Gene]
  • LOC130004988:ATAC-STARR-seq lymphoblastoid silent region 2956 [Gene]
  • LOC130004989:ATAC-STARR-seq lymphoblastoid silent region 2958 [Gene]
  • LOC130004990:ATAC-STARR-seq lymphoblastoid silent region 2959 [Gene]
  • LOC130004991:ATAC-STARR-seq lymphoblastoid silent region 2960 [Gene]
  • LOC130004992:ATAC-STARR-seq lymphoblastoid silent region 2961 [Gene]
  • LOC130004993:ATAC-STARR-seq lymphoblastoid silent region 2962 [Gene]
  • LOC130004994:ATAC-STARR-seq lymphoblastoid silent region 2963 [Gene]
  • LOC130004995:ATAC-STARR-seq lymphoblastoid silent region 2964 [Gene]
  • LOC130004996:ATAC-STARR-seq lymphoblastoid silent region 2965 [Gene]
  • LOC130004998:ATAC-STARR-seq lymphoblastoid silent region 2966 [Gene]
  • LOC130004999:ATAC-STARR-seq lymphoblastoid silent region 2968 [Gene]
  • LOC130005000:ATAC-STARR-seq lymphoblastoid silent region 2969 [Gene]
  • LOC130005008:ATAC-STARR-seq lymphoblastoid silent region 2970 [Gene]
  • LOC130005011:ATAC-STARR-seq lymphoblastoid silent region 2971 [Gene]
  • LOC130005018:ATAC-STARR-seq lymphoblastoid silent region 2974 [Gene]
  • LOC130005021:ATAC-STARR-seq lymphoblastoid silent region 2975 [Gene]
  • LOC130005022:ATAC-STARR-seq lymphoblastoid silent region 2976 [Gene]
  • LOC130005023:ATAC-STARR-seq lymphoblastoid silent region 2977 [Gene]
  • LOC130005025:ATAC-STARR-seq lymphoblastoid silent region 2978 [Gene]
  • LOC130005026:ATAC-STARR-seq lymphoblastoid silent region 2979 [Gene]
  • LOC130005027:ATAC-STARR-seq lymphoblastoid silent region 2980 [Gene]
  • LOC130005028:ATAC-STARR-seq lymphoblastoid silent region 2981 [Gene]
  • LOC130005029:ATAC-STARR-seq lymphoblastoid silent region 2982 [Gene]
  • LOC130005035:ATAC-STARR-seq lymphoblastoid silent region 2983 [Gene]
  • LOC130005036:ATAC-STARR-seq lymphoblastoid silent region 2984 [Gene]
  • ATE1-AS1:ATE1 antisense RNA 1 [Gene - HGNC]
  • BNIP3:BCL2 interacting protein 3 [Gene - OMIM - HGNC]
  • BCCIP:BRCA2 and CDKN1A interacting protein [Gene - OMIM - HGNC]
  • LOC126861062:BRD4-independent group 4 enhancer GRCh37_chr10:122669667-122670866 [Gene]
  • LOC126861065:BRD4-independent group 4 enhancer GRCh37_chr10:123370062-123371261 [Gene]
  • LOC126861066:BRD4-independent group 4 enhancer GRCh37_chr10:123778189-123779388 [Gene]
  • LOC126861068:BRD4-independent group 4 enhancer GRCh37_chr10:124398858-124400057 [Gene]
  • LOC126861073:BRD4-independent group 4 enhancer GRCh37_chr10:126915977-126917176 [Gene]
  • LOC126861075:BRD4-independent group 4 enhancer GRCh37_chr10:127093046-127094245 [Gene]
  • LOC126861076:BRD4-independent group 4 enhancer GRCh37_chr10:127262217-127263416 [Gene]
  • LOC126861081:BRD4-independent group 4 enhancer GRCh37_chr10:128113684-128114883 [Gene]
  • LOC126861082:BRD4-independent group 4 enhancer GRCh37_chr10:128128268-128129467 [Gene]
  • LOC126861084:BRD4-independent group 4 enhancer GRCh37_chr10:128209578-128210777 [Gene]
  • LOC126861086:BRD4-independent group 4 enhancer GRCh37_chr10:128868600-128869799 [Gene]
  • LOC126861087:BRD4-independent group 4 enhancer GRCh37_chr10:128936224-128937423 [Gene]
  • LOC126861091:BRD4-independent group 4 enhancer GRCh37_chr10:129970982-129972181 [Gene]
  • LOC126861096:BRD4-independent group 4 enhancer GRCh37_chr10:132848100-132849299 [Gene]
  • LOC126861098:BRD4-independent group 4 enhancer GRCh37_chr10:133584321-133585520 [Gene]
  • LOC126861101:BRD4-independent group 4 enhancer GRCh37_chr10:134435556-134436755 [Gene]
  • LOC126861102:BRD4-independent group 4 enhancer GRCh37_chr10:134479264-134480463 [Gene]
  • LOC126861107:BRD4-independent group 4 enhancer GRCh37_chr10:135344892-135346091 [Gene]
  • BTBD16:BTB domain containing 16 [Gene - HGNC]
  • BUB3:BUB3 mitotic checkpoint protein [Gene - OMIM - HGNC]
  • CTBP2:C-terminal binding protein 2 [Gene - OMIM - HGNC]
  • LOC126861067:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124253973-124255172 [Gene]
  • LOC126861069:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:124556394-124557593 [Gene]
  • LOC126861072:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:125927283-125928482 [Gene]
  • LOC126861077:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127350251-127351450 [Gene]
  • LOC126861078:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127763214-127764413 [Gene]
  • LOC126861079:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:127823747-127824946 [Gene]
  • LOC126861083:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:128148161-128149360 [Gene]
  • LOC126861088:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:128946487-128947686 [Gene]
  • LOC126861090:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:129860232-129861431 [Gene]
  • LOC126861095:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:132642120-132643319 [Gene]
  • LOC126861104:CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:134826346-134827545 [Gene]
  • LOC110599579:CEB36 minisatellite repeat instability region [Gene]
  • LOC128598885:CRISPRi-validated UROS cis-regulatory element [Gene]
  • CUZD1:CUB and zona pellucida like domains 1 [Gene - OMIM - HGNC]
  • LOC110599585:CYP2E1 5' regulatory region [Gene]
  • DHX32:DEAH-box helicase 32 (putative) [Gene - OMIM - HGNC]
  • EBF3:EBF transcription factor 3 [Gene - OMIM - HGNC]
  • EDRF1-AS1:EDRF1 antisense RNA 1 [Gene - HGNC]
  • EDRF1-DT:EDRF1 divergent transcript [Gene - HGNC]
  • EEF1AKMT2:EEF1A lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • FAM24B-CUZD1:FAM24B-CUZD1 readthrough [Gene]
  • FAM53B-AS1:FAM53B antisense RNA 1 [Gene - HGNC]
  • FANK1-AS1:FANK1 antisense RNA 1 [Gene - HGNC]
  • GPR26:G protein-coupled receptor 26 [Gene - OMIM - HGNC]
  • HMX2:H6 family homeobox 2 [Gene - OMIM - HGNC]
  • HMX3:H6 family homeobox 3 [Gene - OMIM - HGNC]
  • HTRA1:HtrA serine peptidase 1 [Gene - OMIM - HGNC]
  • IKZF5:IKAROS family zinc finger 5 [Gene - OMIM - HGNC]
  • JAKMIP3-AS1:JAKMIP3 antisense RNA 1 [Gene - HGNC]
  • JAKMIP3:Janus kinase and microtubule interacting protein 3 [Gene - OMIM - HGNC]
  • LOC126861061:MED14-independent group 3 enhancer GRCh37_chr10:122263320-122264519 [Gene]
  • LOC126861070:MED14-independent group 3 enhancer GRCh37_chr10:125298302-125299501 [Gene]
  • LOC126861071:MED14-independent group 3 enhancer GRCh37_chr10:125685728-125686927 [Gene]
  • LOC126861074:MED14-independent group 3 enhancer GRCh37_chr10:126919634-126920833 [Gene]
  • LOC126861085:MED14-independent group 3 enhancer GRCh37_chr10:128798279-128799478 [Gene]
  • LOC126861089:MED14-independent group 3 enhancer GRCh37_chr10:129660798-129661997 [Gene]
  • LOC126861092:MED14-independent group 3 enhancer GRCh37_chr10:130427109-130428308 [Gene]
  • LOC126861099:MED14-independent group 3 enhancer GRCh37_chr10:133609642-133610841 [Gene]
  • LOC126861100:MED14-independent group 3 enhancer GRCh37_chr10:133747865-133749064 [Gene]
  • LOC126861103:MED14-independent group 3 enhancer GRCh37_chr10:134705471-134706670 [Gene]
  • LOC126861105:MED14-independent group 3 enhancer GRCh37_chr10:135057814-135059013 [Gene]
  • MIR202HG:MIR202 host gene [Gene - HGNC]
  • LOC129390234:MPRA-validated peak1116 silencer [Gene]
  • LOC129390235:MPRA-validated peak1117 silencer [Gene]
  • LOC129390236:MPRA-validated peak1118 silencer [Gene]
  • LOC129390237:MPRA-validated peak1120 silencer [Gene]
  • LOC129390238:MPRA-validated peak1126 silencer [Gene]
  • LOC129390239:MPRA-validated peak1129 silencer [Gene]
  • LOC129390240:MPRA-validated peak1130 silencer [Gene]
  • LOC129390241:MPRA-validated peak1134 silencer [Gene]
  • LOC129390242:MPRA-validated peak1138 silencer [Gene]
  • NKX1-2:NK1 homeobox 2 [Gene - HGNC]
  • NKX6-2:NK6 homeobox 2 [Gene - OMIM - HGNC]
  • NSMCE4A:NSE4 homolog A, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • LOC132090827:Neanderthal introgressed variant-containing enhancer experimental_10489 [Gene]
  • LOC132090828:Neanderthal introgressed variant-containing enhancer experimental_10514 [Gene]
  • LOC132089750:Neanderthal introgressed variant-containing enhancer experimental_10566 [Gene]
  • LOC132089751:Neanderthal introgressed variant-containing enhancer experimental_10738 [Gene]
  • LOC132089752:Neanderthal introgressed variant-containing enhancer experimental_10754 [Gene]
  • LOC132089753:Neanderthal introgressed variant-containing enhancer experimental_10820 [Gene]
  • LOC132090829:Neanderthal introgressed variant-containing enhancer experimental_10852 [Gene]
  • LOC132089754:Neanderthal introgressed variant-containing enhancer experimental_10867 [Gene]
  • LOC132089755:Neanderthal introgressed variant-containing enhancer experimental_10873 [Gene]
  • LOC132089756:Neanderthal introgressed variant-containing enhancer experimental_10909 [Gene]
  • LOC132089757:Neanderthal introgressed variant-containing enhancer experimental_11122 [Gene]
  • LOC132089758:Neanderthal introgressed variant-containing enhancer experimental_11124 [Gene]
  • LOC132089759:Neanderthal introgressed variant-containing enhancer experimental_11218 [Gene]
  • LOC132089760:Neanderthal introgressed variant-containing enhancer experimental_11222 [Gene]
  • LOC132090830:Neanderthal introgressed variant-containing enhancer experimental_11225 [Gene]
  • LOC132089761:Neanderthal introgressed variant-containing enhancer experimental_11227 [Gene]
  • LOC132211103:Neanderthal introgressed variant-containing enhancers experimental_10761 and experimental_10770 [Gene]
  • LOC132211104:Neanderthal introgressed variant-containing enhancers experimental_10870 and experimental_10871 [Gene]
  • MGMT:O-6-methylguanine-DNA methyltransferase [Gene - OMIM - HGNC]
  • LOC126861063:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:122872407-122873606 [Gene]
  • LOC126861064:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:122918427-122919626 [Gene]
  • LOC111875834:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:126951644-126952843 [Gene]
  • LOC126861080:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:127935743-127936942 [Gene]
  • LOC126861093:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:131516429-131517628 [Gene]
  • LOC126861094:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:132517184-132518383 [Gene]
  • LOC126861097:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:133467536-133468735 [Gene]
  • LOC126861106:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:135106330-135107529 [Gene]
  • PWWP2B:PWWP domain containing 2B [Gene - HGNC]
  • LOC111875833:Sharpr-MPRA regulatory region 10105 [Gene]
  • LOC121366088:Sharpr-MPRA regulatory region 10515 [Gene]
  • LOC111875832:Sharpr-MPRA regulatory region 11829 [Gene]
  • LOC124416936:Sharpr-MPRA regulatory region 11835 [Gene]
  • LOC124416928:Sharpr-MPRA regulatory region 12473 [Gene]
  • LOC113939915:Sharpr-MPRA regulatory region 13232 [Gene]
  • LOC121366092:Sharpr-MPRA regulatory region 13327 [Gene]
  • LOC121815973:Sharpr-MPRA regulatory region 13916 [Gene]
  • LOC121366091:Sharpr-MPRA regulatory region 14360 [Gene]
  • LOC121815977:Sharpr-MPRA regulatory region 15007 [Gene]
  • LOC121815974:Sharpr-MPRA regulatory region 15365 [Gene]
  • LOC124416933:Sharpr-MPRA regulatory region 15565 [Gene]
  • LOC124416926:Sharpr-MPRA regulatory region 15643 [Gene]
  • LOC124416932:Sharpr-MPRA regulatory region 15703 [Gene]
  • LOC121815975:Sharpr-MPRA regulatory region 1593 [Gene]
  • LOC124416931:Sharpr-MPRA regulatory region 1957 [Gene]
  • LOC111946221:Sharpr-MPRA regulatory region 2011 [Gene]
  • LOC124416925:Sharpr-MPRA regulatory region 2134 [Gene]
  • LOC124416923:Sharpr-MPRA regulatory region 2750 [Gene]
  • LOC124416924:Sharpr-MPRA regulatory region 2783 [Gene]
  • LOC124416922:Sharpr-MPRA regulatory region 287 [Gene]
  • LOC121815976:Sharpr-MPRA regulatory region 360 [Gene]
  • LOC124416935:Sharpr-MPRA regulatory region 4393 [Gene]
  • LOC111875835:Sharpr-MPRA regulatory region 5064 [Gene]
  • LOC121366090:Sharpr-MPRA regulatory region 5374 [Gene]
  • LOC124416929:Sharpr-MPRA regulatory region 5499 [Gene]
  • LOC111875831:Sharpr-MPRA regulatory region 5528 [Gene]
  • LOC124416930:Sharpr-MPRA regulatory region 6903 [Gene]
  • LOC121366089:Sharpr-MPRA regulatory region 8473 [Gene]
  • LOC124416921:Sharpr-MPRA regulatory region 8577 [Gene]
  • LOC124416927:Sharpr-MPRA regulatory region 8895 [Gene]
  • LOC124416934:Sharpr-MPRA regulatory region 8952 [Gene]
  • LOC121366093:Sharpr-MPRA regulatory region 9394 [Gene]
  • LOC111818962:Sharpr-MPRA regulatory regions 1076 and 11287 [Gene]
  • LOC111818963:Sharpr-MPRA regulatory regions 4217 and 14470 [Gene]
  • LOC111818958:Sharpr-MPRA regulatory regions 8460 and 2354 [Gene]
  • TCERG1L-AS1:TCERG1L antisense RNA 1 [Gene - HGNC]
  • TEX36-AS1:TEX36 antisense RNA 1 [Gene - HGNC]
  • VENTX:VENT homeobox [Gene - OMIM - HGNC]
  • LOC110121344:VISTA enhancer hs1319 [Gene]
  • LOC110121444:VISTA enhancer hs1763 [Gene]
  • LOC110120846:VISTA enhancer hs232 [Gene]
  • LOC110120851:VISTA enhancer hs329 [Gene]
  • LOC110120852:VISTA enhancer hs330 [Gene]
  • LOC110120892:VISTA enhancer hs562 [Gene]
  • LOC110120898:VISTA enhancer hs578 [Gene]
  • LOC110120916:VISTA enhancer hs656 [Gene]
  • LOC110120924:VISTA enhancer hs699 [Gene]
  • LOC110120928:VISTA enhancer hs737 [Gene]
  • WDR11:WD repeat domain 11 [Gene - OMIM - HGNC]
  • WDR11-DT:WDR11 divergent transcript [Gene - HGNC]
  • ZNF511-PRAP1:ZNF511-PRAP1 readthrough [Gene - HGNC]
  • ABRAXAS2:abraxas 2, BRISC complex subunit [Gene - OMIM - HGNC]
  • ACADSB:acyl-CoA dehydrogenase short/branched chain [Gene - OMIM - HGNC]
  • ADGRA1:adhesion G protein-coupled receptor A1 [Gene - OMIM - HGNC]
  • ARMS2:age-related maculopathy susceptibility 2 [Gene - OMIM - HGNC]
  • ATE1:arginyltransferase 1 [Gene - OMIM - HGNC]
  • CALY:calcyon neuron specific vesicular protein [Gene - OMIM - HGNC]
  • CHST15:carbohydrate sulfotransferase 15 [Gene - OMIM - HGNC]
  • CPXM2:carboxypeptidase X, M14 family member 2 [Gene - OMIM - HGNC]
  • C10orf120:chromosome 10 open reading frame 120 [Gene - HGNC]
  • C10orf143:chromosome 10 open reading frame 143 [Gene - HGNC]
  • C10orf88:chromosome 10 open reading frame 88 [Gene - HGNC]
  • C10orf90:chromosome 10 open reading frame 90 [Gene - OMIM - HGNC]
  • CFAP46:cilia and flagella associated protein 46 [Gene - OMIM - HGNC]
  • CLRN3:clarin 3 [Gene - OMIM - HGNC]
  • CYP2E1:cytochrome P450 family 2 subfamily E member 1 [Gene - OMIM - HGNC]
  • DOCK1:dedicator of cytokinesis 1 [Gene - OMIM - HGNC]
  • DMBT1:deleted in malignant brain tumors 1 [Gene - OMIM - HGNC]
  • DPYSL4:dihydropyrimidinase like 4 [Gene - OMIM - HGNC]
  • ECHS1:enoyl-CoA hydratase, short chain 1 [Gene - OMIM - HGNC]
  • EDRF1:erythroid differentiation regulatory factor 1 [Gene - OMIM - HGNC]
  • FAM24A:family with sequence similarity 24 member A [Gene - HGNC]
  • FAM24B:family with sequence similarity 24 member B [Gene - HGNC]
  • FAM53B:family with sequence similarity 53 member B [Gene - OMIM - HGNC]
  • FGFR2:fibroblast growth factor receptor 2 [Gene - OMIM - HGNC]
  • FANK1:fibronectin type III and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • FOXI2:forkhead box I2 [Gene - OMIM - HGNC]
  • FUOM:fucose mutarotase [Gene - OMIM - HGNC]
  • GLRX3:glutaredoxin 3 [Gene - OMIM - HGNC]
  • INSYN2A:inhibitory synaptic factor 2A [Gene - OMIM - HGNC]
  • INPP5A:inositol polyphosphate-5-phosphatase A [Gene - OMIM - HGNC]
  • KNDC1:kinase non-catalytic C-lobe domain containing 1 [Gene - OMIM - HGNC]
  • LRRC27:leucine rich repeat containing 27 [Gene - HGNC]
  • AS-PTPRE:lncRNA antisense to PTPRE protein-coding gene [Gene]
  • LINC01153:long intergenic non-protein coding RNA 1153 [Gene - HGNC]
  • LINC01163:long intergenic non-protein coding RNA 1163 [Gene - HGNC]
  • LINC01164:long intergenic non-protein coding RNA 1164 [Gene - HGNC]
  • LINC01165:long intergenic non-protein coding RNA 1165 [Gene - HGNC]
  • LINC01166:long intergenic non-protein coding RNA 1166 [Gene - HGNC]
  • LINC01167:long intergenic non-protein coding RNA 1167 [Gene - HGNC]
  • LINC01168:long intergenic non-protein coding RNA 1168 [Gene - HGNC]
  • LINC01561:long intergenic non-protein coding RNA 1561 [Gene - HGNC]
  • LINC02641:long intergenic non-protein coding RNA 2641 [Gene - HGNC]
  • LINC02667:long intergenic non-protein coding RNA 2667 [Gene - HGNC]
  • LINC02870:long intergenic non-protein coding RNA 2870 [Gene - HGNC]
  • LINC03068:long intergenic non-protein coding RNA 3068 [Gene - HGNC]
  • LINC00601:long intergenic non-protein coding RNA 601 [Gene - HGNC]
  • MKI67:marker of proliferation Ki-67 [Gene - OMIM - HGNC]
  • MMP21:matrix metallopeptidase 21 [Gene - OMIM - HGNC]
  • MIR202:microRNA 202 [Gene - HGNC]
  • MIR378C:microRNA 378c [Gene - HGNC]
  • MIR3941:microRNA 3941 [Gene - HGNC]
  • MIR3944:microRNA 3944 [Gene - HGNC]
  • MIR4296:microRNA 4296 [Gene - HGNC]
  • MIR4297:microRNA 4297 [Gene - HGNC]
  • MIR4484:microRNA 4484 [Gene - HGNC]
  • MTG1:mitochondrial ribosome associated GTPase 1 [Gene - HGNC]
  • NPS:neuropeptide S [Gene - OMIM - HGNC]
  • OAT:ornithine aminotransferase [Gene - OMIM - HGNC]
  • PLPP4:phospholipid phosphatase 4 [Gene - HGNC]
  • LHPP:phospholysine phosphohistidine inorganic pyrophosphate phosphatase [Gene - OMIM - HGNC]
  • PSTK:phosphoseryl-tRNA kinase [Gene - OMIM - HGNC]
  • PLEKHA1:pleckstrin homology domain containing A1 [Gene - OMIM - HGNC]
  • PAOX:polyamine oxidase [Gene - OMIM - HGNC]
  • PRAP1:proline rich acidic protein 1 [Gene - OMIM - HGNC]
  • PPP2R2D:protein phosphatase 2 regulatory subunit Bdelta [Gene - OMIM - HGNC]
  • PTPRE:protein tyrosine phosphatase receptor type E [Gene - OMIM - HGNC]
  • SCART1:scavenger receptor family member expressed on T cells 1 [Gene - HGNC]
  • STK32C:serine/threonine kinase 32C [Gene - HGNC]
  • SPRN:shadow of prion protein [Gene - OMIM - HGNC]
  • SPADH:spermadhesin family member [Gene - HGNC]
  • SYCE1:synaptonemal complex central element protein 1 [Gene - OMIM - HGNC]
  • TEX36:testis expressed 36 [Gene - HGNC]
  • TCERG1L:transcription elongation regulator 1 like [Gene - OMIM - HGNC]
  • TACC2:transforming acidic coiled-coil containing protein 2 [Gene - OMIM - HGNC]
  • TUBGCP2:tubulin gamma complex component 2 [Gene - OMIM - HGNC]
  • LOC102724883:uncharacterized LOC102724883 [Gene]
  • LOC105378552:uncharacterized LOC105378552 [Gene]
  • LOC107984281:uncharacterized LOC107984281 [Gene]
  • LOC107984282:uncharacterized LOC107984282 [Gene]
  • LOC283038:uncharacterized LOC283038 [Gene]
  • LOC728158:uncharacterized LOC728158 [Gene]
  • UTF1:undifferentiated embryonic cell transcription factor 1 [Gene - OMIM - HGNC]
  • UROS:uroporphyrinogen III synthase [Gene - OMIM - HGNC]
  • ZRANB1:zinc finger RANBP2-type containing 1 [Gene - OMIM - HGNC]
  • ZNF511:zinc finger protein 511 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
10q26.12-26.3
Genomic location:
Preferred name:
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1
HGVS:
  • NC_000010.11:g.(?_120454430)_(133620674_?)del
  • NC_000010.10:g.(?_122213942)_(135434178_?)del
  • NC_000010.9:g.(?_122203932)_(135284168_?)del
Links:
dbVar: nssv577312; dbVar: nsv529651
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
SCV000078443ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000078443.4

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

Last Updated: Oct 14, 2023