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GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)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:
RCV000053948.5

Allele description [Variation Report for GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1]

GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1

Genes:
  • ABL2:ABL proto-oncogene 2, non-receptor tyrosine kinase [Gene - OMIM - HGNC]
  • LOC129931995:ATAC-STARR-seq lymphoblastoid active region 2149 [Gene]
  • LOC129931997:ATAC-STARR-seq lymphoblastoid active region 2150 [Gene]
  • LOC129931998:ATAC-STARR-seq lymphoblastoid active region 2151 [Gene]
  • LOC129932000:ATAC-STARR-seq lymphoblastoid active region 2152 [Gene]
  • LOC129932001:ATAC-STARR-seq lymphoblastoid active region 2153 [Gene]
  • LOC129932002:ATAC-STARR-seq lymphoblastoid active region 2154 [Gene]
  • LOC129932003:ATAC-STARR-seq lymphoblastoid active region 2157 [Gene]
  • LOC129932004:ATAC-STARR-seq lymphoblastoid active region 2158 [Gene]
  • LOC129932006:ATAC-STARR-seq lymphoblastoid active region 2159 [Gene]
  • LOC129932007:ATAC-STARR-seq lymphoblastoid active region 2160 [Gene]
  • LOC129932009:ATAC-STARR-seq lymphoblastoid active region 2161 [Gene]
  • LOC129932010:ATAC-STARR-seq lymphoblastoid active region 2162 [Gene]
  • LOC129932011:ATAC-STARR-seq lymphoblastoid active region 2164 [Gene]
  • LOC129932013:ATAC-STARR-seq lymphoblastoid active region 2165 [Gene]
  • LOC129932016:ATAC-STARR-seq lymphoblastoid active region 2166 [Gene]
  • LOC129932017:ATAC-STARR-seq lymphoblastoid active region 2167 [Gene]
  • LOC129932018:ATAC-STARR-seq lymphoblastoid active region 2168 [Gene]
  • LOC129932019:ATAC-STARR-seq lymphoblastoid active region 2169 [Gene]
  • LOC129932020:ATAC-STARR-seq lymphoblastoid active region 2170 [Gene]
  • LOC129932021:ATAC-STARR-seq lymphoblastoid active region 2171 [Gene]
  • LOC129932022:ATAC-STARR-seq lymphoblastoid active region 2172 [Gene]
  • LOC129932027:ATAC-STARR-seq lymphoblastoid active region 2173 [Gene]
  • LOC129932028:ATAC-STARR-seq lymphoblastoid active region 2174 [Gene]
  • LOC129932030:ATAC-STARR-seq lymphoblastoid active region 2175 [Gene]
  • LOC129932031:ATAC-STARR-seq lymphoblastoid active region 2176 [Gene]
  • LOC129932032:ATAC-STARR-seq lymphoblastoid active region 2177 [Gene]
  • LOC129932033:ATAC-STARR-seq lymphoblastoid active region 2178 [Gene]
  • LOC129932034:ATAC-STARR-seq lymphoblastoid active region 2179 [Gene]
  • LOC129932035:ATAC-STARR-seq lymphoblastoid active region 2181 [Gene]
  • LOC129932037:ATAC-STARR-seq lymphoblastoid active region 2184 [Gene]
  • LOC129932040:ATAC-STARR-seq lymphoblastoid active region 2185 [Gene]
  • LOC129932041:ATAC-STARR-seq lymphoblastoid active region 2186 [Gene]
  • LOC129932042:ATAC-STARR-seq lymphoblastoid active region 2187 [Gene]
  • LOC129932043:ATAC-STARR-seq lymphoblastoid active region 2188 [Gene]
  • LOC129932045:ATAC-STARR-seq lymphoblastoid active region 2189 [Gene]
  • LOC129932048:ATAC-STARR-seq lymphoblastoid active region 2190 [Gene]
  • LOC129932049:ATAC-STARR-seq lymphoblastoid active region 2191 [Gene]
  • LOC129932050:ATAC-STARR-seq lymphoblastoid active region 2192 [Gene]
  • LOC129932051:ATAC-STARR-seq lymphoblastoid active region 2193 [Gene]
  • LOC129932053:ATAC-STARR-seq lymphoblastoid active region 2194 [Gene]
  • LOC129932055:ATAC-STARR-seq lymphoblastoid active region 2196 [Gene]
  • LOC129932059:ATAC-STARR-seq lymphoblastoid active region 2197 [Gene]
  • LOC129932060:ATAC-STARR-seq lymphoblastoid active region 2198 [Gene]
  • LOC129932061:ATAC-STARR-seq lymphoblastoid active region 2199 [Gene]
  • LOC129932063:ATAC-STARR-seq lymphoblastoid active region 2200 [Gene]
  • LOC129932064:ATAC-STARR-seq lymphoblastoid active region 2201 [Gene]
  • LOC129932065:ATAC-STARR-seq lymphoblastoid active region 2202 [Gene]
  • LOC129932066:ATAC-STARR-seq lymphoblastoid active region 2203 [Gene]
  • LOC129932067:ATAC-STARR-seq lymphoblastoid active region 2205 [Gene]
  • LOC129932068:ATAC-STARR-seq lymphoblastoid active region 2207 [Gene]
  • LOC129932069:ATAC-STARR-seq lymphoblastoid active region 2208 [Gene]
  • LOC129932073:ATAC-STARR-seq lymphoblastoid active region 2209 [Gene]
  • LOC129932074:ATAC-STARR-seq lymphoblastoid active region 2210 [Gene]
  • LOC129932075:ATAC-STARR-seq lymphoblastoid active region 2211 [Gene]
  • LOC129932076:ATAC-STARR-seq lymphoblastoid active region 2212 [Gene]
  • LOC129932078:ATAC-STARR-seq lymphoblastoid active region 2213 [Gene]
  • LOC129932081:ATAC-STARR-seq lymphoblastoid active region 2214 [Gene]
  • LOC129932083:ATAC-STARR-seq lymphoblastoid active region 2215 [Gene]
  • LOC129932084:ATAC-STARR-seq lymphoblastoid active region 2216 [Gene]
  • LOC129932085:ATAC-STARR-seq lymphoblastoid active region 2217 [Gene]
  • LOC129932086:ATAC-STARR-seq lymphoblastoid active region 2218 [Gene]
  • LOC129932087:ATAC-STARR-seq lymphoblastoid active region 2219 [Gene]
  • LOC129932088:ATAC-STARR-seq lymphoblastoid active region 2220 [Gene]
  • LOC129932089:ATAC-STARR-seq lymphoblastoid active region 2221 [Gene]
  • LOC129932091:ATAC-STARR-seq lymphoblastoid active region 2222 [Gene]
  • LOC129932092:ATAC-STARR-seq lymphoblastoid active region 2223 [Gene]
  • LOC129932093:ATAC-STARR-seq lymphoblastoid active region 2224 [Gene]
  • LOC129932094:ATAC-STARR-seq lymphoblastoid active region 2225 [Gene]
  • LOC129932095:ATAC-STARR-seq lymphoblastoid active region 2226 [Gene]
  • LOC129932096:ATAC-STARR-seq lymphoblastoid active region 2227 [Gene]
  • LOC129932097:ATAC-STARR-seq lymphoblastoid active region 2228 [Gene]
  • LOC129932098:ATAC-STARR-seq lymphoblastoid active region 2229 [Gene]
  • LOC129932100:ATAC-STARR-seq lymphoblastoid active region 2232 [Gene]
  • LOC129932101:ATAC-STARR-seq lymphoblastoid active region 2233 [Gene]
  • LOC129932105:ATAC-STARR-seq lymphoblastoid active region 2234 [Gene]
  • LOC129932106:ATAC-STARR-seq lymphoblastoid active region 2235 [Gene]
  • LOC129932107:ATAC-STARR-seq lymphoblastoid active region 2236 [Gene]
  • LOC129932108:ATAC-STARR-seq lymphoblastoid active region 2237 [Gene]
  • LOC129932109:ATAC-STARR-seq lymphoblastoid active region 2238 [Gene]
  • LOC129932111:ATAC-STARR-seq lymphoblastoid active region 2239 [Gene]
  • LOC129932112:ATAC-STARR-seq lymphoblastoid active region 2240 [Gene]
  • LOC129932118:ATAC-STARR-seq lymphoblastoid active region 2242 [Gene]
  • LOC129932119:ATAC-STARR-seq lymphoblastoid active region 2243 [Gene]
  • LOC129932120:ATAC-STARR-seq lymphoblastoid active region 2244 [Gene]
  • LOC129932121:ATAC-STARR-seq lymphoblastoid active region 2245 [Gene]
  • LOC129932123:ATAC-STARR-seq lymphoblastoid active region 2246 [Gene]
  • LOC129932124:ATAC-STARR-seq lymphoblastoid active region 2247 [Gene]
  • LOC129932125:ATAC-STARR-seq lymphoblastoid active region 2248 [Gene]
  • LOC129932127:ATAC-STARR-seq lymphoblastoid active region 2251 [Gene]
  • LOC129932128:ATAC-STARR-seq lymphoblastoid active region 2252 [Gene]
  • LOC129932129:ATAC-STARR-seq lymphoblastoid active region 2253 [Gene]
  • LOC129932130:ATAC-STARR-seq lymphoblastoid active region 2254 [Gene]
  • LOC129932131:ATAC-STARR-seq lymphoblastoid active region 2255 [Gene]
  • LOC129932132:ATAC-STARR-seq lymphoblastoid active region 2256 [Gene]
  • LOC129932134:ATAC-STARR-seq lymphoblastoid active region 2257 [Gene]
  • LOC129932135:ATAC-STARR-seq lymphoblastoid active region 2258 [Gene]
  • LOC129932137:ATAC-STARR-seq lymphoblastoid active region 2259 [Gene]
  • LOC129932138:ATAC-STARR-seq lymphoblastoid active region 2260 [Gene]
  • LOC129932139:ATAC-STARR-seq lymphoblastoid active region 2261 [Gene]
  • LOC129932140:ATAC-STARR-seq lymphoblastoid active region 2262 [Gene]
  • LOC129932141:ATAC-STARR-seq lymphoblastoid active region 2263 [Gene]
  • LOC129932144:ATAC-STARR-seq lymphoblastoid active region 2264 [Gene]
  • LOC129932146:ATAC-STARR-seq lymphoblastoid active region 2265 [Gene]
  • LOC129932147:ATAC-STARR-seq lymphoblastoid active region 2269 [Gene]
  • LOC129932148:ATAC-STARR-seq lymphoblastoid active region 2270 [Gene]
  • LOC129932149:ATAC-STARR-seq lymphoblastoid active region 2271 [Gene]
  • LOC129932150:ATAC-STARR-seq lymphoblastoid active region 2272 [Gene]
  • LOC129932151:ATAC-STARR-seq lymphoblastoid active region 2273 [Gene]
  • LOC129932153:ATAC-STARR-seq lymphoblastoid active region 2274 [Gene]
  • LOC129932154:ATAC-STARR-seq lymphoblastoid active region 2275 [Gene]
  • LOC129932158:ATAC-STARR-seq lymphoblastoid active region 2276 [Gene]
  • LOC129932161:ATAC-STARR-seq lymphoblastoid active region 2277 [Gene]
  • LOC129932162:ATAC-STARR-seq lymphoblastoid active region 2278 [Gene]
  • LOC129932163:ATAC-STARR-seq lymphoblastoid active region 2279 [Gene]
  • LOC129932165:ATAC-STARR-seq lymphoblastoid active region 2280 [Gene]
  • LOC129932166:ATAC-STARR-seq lymphoblastoid active region 2281 [Gene]
  • LOC129932167:ATAC-STARR-seq lymphoblastoid active region 2282 [Gene]
  • LOC129932169:ATAC-STARR-seq lymphoblastoid active region 2283 [Gene]
  • LOC129932170:ATAC-STARR-seq lymphoblastoid active region 2284 [Gene]
  • LOC129932172:ATAC-STARR-seq lymphoblastoid active region 2285 [Gene]
  • LOC129932173:ATAC-STARR-seq lymphoblastoid active region 2286 [Gene]
  • LOC129932174:ATAC-STARR-seq lymphoblastoid active region 2287 [Gene]
  • LOC129932175:ATAC-STARR-seq lymphoblastoid active region 2288 [Gene]
  • LOC129932176:ATAC-STARR-seq lymphoblastoid active region 2289 [Gene]
  • LOC129932177:ATAC-STARR-seq lymphoblastoid active region 2290 [Gene]
  • LOC129932178:ATAC-STARR-seq lymphoblastoid active region 2291 [Gene]
  • LOC129932179:ATAC-STARR-seq lymphoblastoid active region 2292 [Gene]
  • LOC129932180:ATAC-STARR-seq lymphoblastoid active region 2293 [Gene]
  • LOC129931992:ATAC-STARR-seq lymphoblastoid silent region 1585 [Gene]
  • LOC129931993:ATAC-STARR-seq lymphoblastoid silent region 1586 [Gene]
  • LOC129931994:ATAC-STARR-seq lymphoblastoid silent region 1587 [Gene]
  • LOC129931996:ATAC-STARR-seq lymphoblastoid silent region 1589 [Gene]
  • LOC129931999:ATAC-STARR-seq lymphoblastoid silent region 1590 [Gene]
  • LOC129932005:ATAC-STARR-seq lymphoblastoid silent region 1592 [Gene]
  • LOC129932008:ATAC-STARR-seq lymphoblastoid silent region 1593 [Gene]
  • LOC129932012:ATAC-STARR-seq lymphoblastoid silent region 1596 [Gene]
  • LOC129932014:ATAC-STARR-seq lymphoblastoid silent region 1597 [Gene]
  • LOC129932015:ATAC-STARR-seq lymphoblastoid silent region 1598 [Gene]
  • LOC129932023:ATAC-STARR-seq lymphoblastoid silent region 1601 [Gene]
  • LOC129932024:ATAC-STARR-seq lymphoblastoid silent region 1602 [Gene]
  • LOC129932025:ATAC-STARR-seq lymphoblastoid silent region 1603 [Gene]
  • LOC129932026:ATAC-STARR-seq lymphoblastoid silent region 1604 [Gene]
  • LOC129932029:ATAC-STARR-seq lymphoblastoid silent region 1605 [Gene]
  • LOC129932036:ATAC-STARR-seq lymphoblastoid silent region 1608 [Gene]
  • LOC129932038:ATAC-STARR-seq lymphoblastoid silent region 1609 [Gene]
  • LOC129932039:ATAC-STARR-seq lymphoblastoid silent region 1610 [Gene]
  • LOC129932044:ATAC-STARR-seq lymphoblastoid silent region 1611 [Gene]
  • LOC129932046:ATAC-STARR-seq lymphoblastoid silent region 1612 [Gene]
  • LOC129932047:ATAC-STARR-seq lymphoblastoid silent region 1613 [Gene]
  • LOC129932052:ATAC-STARR-seq lymphoblastoid silent region 1614 [Gene]
  • LOC129932054:ATAC-STARR-seq lymphoblastoid silent region 1615 [Gene]
  • LOC129932056:ATAC-STARR-seq lymphoblastoid silent region 1617 [Gene]
  • LOC129932057:ATAC-STARR-seq lymphoblastoid silent region 1618 [Gene]
  • LOC129932058:ATAC-STARR-seq lymphoblastoid silent region 1619 [Gene]
  • LOC129932062:ATAC-STARR-seq lymphoblastoid silent region 1620 [Gene]
  • LOC129932070:ATAC-STARR-seq lymphoblastoid silent region 1622 [Gene]
  • LOC129932071:ATAC-STARR-seq lymphoblastoid silent region 1625 [Gene]
  • LOC129932072:ATAC-STARR-seq lymphoblastoid silent region 1627 [Gene]
  • LOC129932077:ATAC-STARR-seq lymphoblastoid silent region 1629 [Gene]
  • LOC129932079:ATAC-STARR-seq lymphoblastoid silent region 1630 [Gene]
  • LOC129932080:ATAC-STARR-seq lymphoblastoid silent region 1631 [Gene]
  • LOC129932082:ATAC-STARR-seq lymphoblastoid silent region 1632 [Gene]
  • LOC129932090:ATAC-STARR-seq lymphoblastoid silent region 1635 [Gene]
  • LOC129932099:ATAC-STARR-seq lymphoblastoid silent region 1636 [Gene]
  • LOC129932102:ATAC-STARR-seq lymphoblastoid silent region 1637 [Gene]
  • LOC129932103:ATAC-STARR-seq lymphoblastoid silent region 1638 [Gene]
  • LOC129932104:ATAC-STARR-seq lymphoblastoid silent region 1639 [Gene]
  • LOC129932110:ATAC-STARR-seq lymphoblastoid silent region 1640 [Gene]
  • LOC129932113:ATAC-STARR-seq lymphoblastoid silent region 1641 [Gene]
  • LOC129932114:ATAC-STARR-seq lymphoblastoid silent region 1642 [Gene]
  • LOC129932115:ATAC-STARR-seq lymphoblastoid silent region 1643 [Gene]
  • LOC129932116:ATAC-STARR-seq lymphoblastoid silent region 1645 [Gene]
  • LOC129932117:ATAC-STARR-seq lymphoblastoid silent region 1647 [Gene]
  • LOC129932122:ATAC-STARR-seq lymphoblastoid silent region 1648 [Gene]
  • LOC129932126:ATAC-STARR-seq lymphoblastoid silent region 1649 [Gene]
  • LOC129932133:ATAC-STARR-seq lymphoblastoid silent region 1650 [Gene]
  • LOC129932136:ATAC-STARR-seq lymphoblastoid silent region 1651 [Gene]
  • LOC129932142:ATAC-STARR-seq lymphoblastoid silent region 1652 [Gene]
  • LOC129932143:ATAC-STARR-seq lymphoblastoid silent region 1653 [Gene]
  • LOC129932145:ATAC-STARR-seq lymphoblastoid silent region 1654 [Gene]
  • LOC129932152:ATAC-STARR-seq lymphoblastoid silent region 1658 [Gene]
  • LOC129932155:ATAC-STARR-seq lymphoblastoid silent region 1659 [Gene]
  • LOC129932156:ATAC-STARR-seq lymphoblastoid silent region 1661 [Gene]
  • LOC129932157:ATAC-STARR-seq lymphoblastoid silent region 1662 [Gene]
  • LOC129932159:ATAC-STARR-seq lymphoblastoid silent region 1663 [Gene]
  • LOC129932160:ATAC-STARR-seq lymphoblastoid silent region 1664 [Gene]
  • LOC129932164:ATAC-STARR-seq lymphoblastoid silent region 1665 [Gene]
  • LOC129932168:ATAC-STARR-seq lymphoblastoid silent region 1666 [Gene]
  • LOC129932171:ATAC-STARR-seq lymphoblastoid silent region 1667 [Gene]
  • ATP6V1G3:ATPase H+ transporting V1 subunit G3 [Gene - OMIM - HGNC]
  • BRINP3:BMP/retinoic acid inducible neural specific 3 [Gene - OMIM - HGNC]
  • LOC126805951:BRD4-independent group 4 enhancer GRCh37_chr1:185034115-185035314 [Gene]
  • LOC126805955:BRD4-independent group 4 enhancer GRCh37_chr1:186323778-186324977 [Gene]
  • LOC126805959:BRD4-independent group 4 enhancer GRCh37_chr1:188675571-188676770 [Gene]
  • LOC126805961:BRD4-independent group 4 enhancer GRCh37_chr1:192795712-192796911 [Gene]
  • LOC126805965:BRD4-independent group 4 enhancer GRCh37_chr1:196986547-196987746 [Gene]
  • LOC126805966:BRD4-independent group 4 enhancer GRCh37_chr1:197037498-197038697 [Gene]
  • LOC126805969:BRD4-independent group 4 enhancer GRCh37_chr1:198776880-198778079 [Gene]
  • BRINP3-DT:BRINP3 divergent transcript [Gene - HGNC]
  • C1orf21-DT:C1orf21 divergent transcript [Gene - HGNC]
  • LOC126805940:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:180540570-180541769 [Gene]
  • LOC126805944:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:182354799-182355998 [Gene]
  • LOC126805945:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:182443692-182444891 [Gene]
  • LOC126805950:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:184985922-184987121 [Gene]
  • LOC126805952:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:185554623-185555822 [Gene]
  • LOC126805954:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:186312648-186313847 [Gene]
  • LOC126805960:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:190647894-190649093 [Gene]
  • LOC126805963:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:195950386-195951585 [Gene]
  • LOC126805964:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:196827453-196828652 [Gene]
  • LOC126805967:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:197541395-197542594 [Gene]
  • LOC126805968:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:198637893-198639092 [Gene]
  • LOC115804233:CRISPRi-validated cis-regulatory element chr1.10130 [Gene]
  • LOC115804235:CRISPRi-validated cis-regulatory element chr1.10229 [Gene]
  • LOC115804236:CRISPRi-validated cis-regulatory element chr1.10230 [Gene]
  • LOC115804237:CRISPRi-validated cis-regulatory element chr1.10450 [Gene]
  • DENND1B:DENN domain containing 1B [Gene - OMIM - HGNC]
  • DHX9:DExH-box helicase 9 [Gene - OMIM - HGNC]
  • DHX9-AS1:DHX9 antisense RNA 1 [Gene - HGNC]
  • EDEM3:ER degradation enhancing alpha-mannosidase like protein 3 [Gene - OMIM - HGNC]
  • FAM20B:FAM20B glycosaminoglycan xylosylkinase [Gene - OMIM - HGNC]
  • LOC111365143:FOXA motif-containing MPRA enhancer 10/11 [Gene]
  • LOC115804234:H3K4me1 hESC enhancers GRCh37_chr1:181110258-181110758 and GRCh37_chr1:181110759-181111259 [Gene]
  • LOC111556116:HNF1 motif-containing MPRA enhancer 26 [Gene]
  • KIAA1614-AS1:KIAA1614 antisense RNA 1 [Gene - HGNC]
  • KIAA1614:KIAA1614 [Gene - HGNC]
  • LAMC1-AS1:LAMC1 antisense RNA 1 [Gene - HGNC]
  • LHX4-AS1:LHX4 antisense RNA 1 [Gene - HGNC]
  • LHX4:LIM homeobox 4 [Gene - OMIM - HGNC]
  • LHX9:LIM homeobox 9 [Gene - OMIM - HGNC]
  • LOC126805937:MED14-independent group 3 enhancer GRCh37_chr1:179111778-179112977 [Gene]
  • LOC126805938:MED14-independent group 3 enhancer GRCh37_chr1:179486027-179487226 [Gene]
  • LOC126805939:MED14-independent group 3 enhancer GRCh37_chr1:180490465-180491664 [Gene]
  • LOC126805942:MED14-independent group 3 enhancer GRCh37_chr1:181103703-181104902 [Gene]
  • LOC126805943:MED14-independent group 3 enhancer GRCh37_chr1:181737037-181738236 [Gene]
  • LOC126805946:MED14-independent group 3 enhancer GRCh37_chr1:182612621-182613820 [Gene]
  • LOC126805947:MED14-independent group 3 enhancer GRCh37_chr1:182729835-182731034 [Gene]
  • LOC126805948:MED14-independent group 3 enhancer GRCh37_chr1:183154769-183155968 [Gene]
  • LOC126805949:MED14-independent group 3 enhancer GRCh37_chr1:184259012-184260211 [Gene]
  • LOC126805956:MED14-independent group 3 enhancer GRCh37_chr1:186646706-186647905 [Gene]
  • LOC126805957:MED14-independent group 3 enhancer GRCh37_chr1:187599629-187600828 [Gene]
  • LOC126805958:MED14-independent group 3 enhancer GRCh37_chr1:187607398-187608597 [Gene]
  • LOC120893169:MED14-independent group 3 enhancer GRCh37_chr1:193324401-193325600 [Gene]
  • MIR181A1HG:MIR181A1 host gene [Gene - HGNC]
  • LOC129388647:MPRA-validated peak480 silencer [Gene]
  • LOC129388648:MPRA-validated peak481 silencer [Gene]
  • LOC129388649:MPRA-validated peak482 silencer [Gene]
  • LOC129388650:MPRA-validated peak483 silencer [Gene]
  • LOC129388651:MPRA-validated peak484 silencer [Gene]
  • LOC129388652:MPRA-validated peak486 silencer [Gene]
  • LOC129388653:MPRA-validated peak488 silencer [Gene]
  • LOC129388654:MPRA-validated peak489 silencer [Gene]
  • LOC129388655:MPRA-validated peak491 silencer [Gene]
  • LOC129388656:MPRA-validated peak492 silencer [Gene]
  • LOC129388657:MPRA-validated peak499 silencer [Gene]
  • LOC129388658:MPRA-validated peak501 silencer [Gene]
  • LOC129388659:MPRA-validated peak504 silencer [Gene]
  • LOC129388660:MPRA-validated peak505 silencer [Gene]
  • LOC129388661:MPRA-validated peak509 silencer [Gene]
  • LOC129388662:MPRA-validated peak510 silencer [Gene]
  • LOC129388663:MPRA-validated peak511 silencer [Gene]
  • LOC129388664:MPRA-validated peak512 silencer [Gene]
  • LOC129388665:MPRA-validated peak513 silencer [Gene]
  • LOC129388666:MPRA-validated peak514 silencer [Gene]
  • LOC129388667:MPRA-validated peak515 silencer [Gene]
  • LOC129388668:MPRA-validated peak520 silencer [Gene]
  • LOC129388669:MPRA-validated peak523 silencer [Gene]
  • LOC129388670:MPRA-validated peak525 silencer [Gene]
  • LOC129388671:MPRA-validated peak527 silencer [Gene]
  • LOC129388672:MPRA-validated peak536 silencer [Gene]
  • LOC129388673:MPRA-validated peak538 silencer [Gene]
  • LOC129388674:MPRA-validated peak539 silencer [Gene]
  • LOC129388675:MPRA-validated peak540 silencer [Gene]
  • LOC129388676:MPRA-validated peak542 silencer [Gene]
  • LOC129388677:MPRA-validated peak543 silencer [Gene]
  • LOC129388678:MPRA-validated peak545 silencer [Gene]
  • LOC129388679:MPRA-validated peak546 silencer [Gene]
  • LOC129388680:MPRA-validated peak549 silencer [Gene]
  • LOC129388681:MPRA-validated peak550 silencer [Gene]
  • LOC129388682:MPRA-validated peak553 silencer [Gene]
  • LOC129388683:MPRA-validated peak555 silencer [Gene]
  • LOC129388684:MPRA-validated peak561 silencer [Gene]
  • LOC129388685:MPRA-validated peak563 silencer [Gene]
  • LOC129388686:MPRA-validated peak564 silencer [Gene]
  • LOC129388687:MPRA-validated peak566 silencer [Gene]
  • LOC129388688:MPRA-validated peak568 silencer [Gene]
  • LOC129388689:MPRA-validated peak569 silencer [Gene]
  • LOC129388690:MPRA-validated peak571 silencer [Gene]
  • LOC129388691:MPRA-validated peak575 silencer [Gene]
  • LOC129388692:MPRA-validated peak580 silencer [Gene]
  • LOC129388693:MPRA-validated peak582 silencer [Gene]
  • LOC129388694:MPRA-validated peak586 silencer [Gene]
  • LOC129388695:MPRA-validated peak587 silencer [Gene]
  • LOC129388696:MPRA-validated peak588 silencer [Gene]
  • LOC129388697:MPRA-validated peak594 silencer [Gene]
  • LOC129388698:MPRA-validated peak595 silencer [Gene]
  • LOC129388699:MPRA-validated peak596 silencer [Gene]
  • LOC129388700:MPRA-validated peak598 silencer [Gene]
  • LOC129388701:MPRA-validated peak599 silencer [Gene]
  • LOC129388702:MPRA-validated peak600 silencer [Gene]
  • LOC129388703:MPRA-validated peak601 silencer [Gene]
  • LOC129388704:MPRA-validated peak603 silencer [Gene]
  • LOC129388705:MPRA-validated peak604 silencer [Gene]
  • LOC129388706:MPRA-validated peak605 silencer [Gene]
  • LOC129388707:MPRA-validated peak609 silencer [Gene]
  • LOC129388708:MPRA-validated peak610 silencer [Gene]
  • LOC129388709:MPRA-validated peak612 silencer [Gene]
  • LOC129388710:MPRA-validated peak613 silencer [Gene]
  • LOC129388711:MPRA-validated peak614 silencer [Gene]
  • LOC129388712:MPRA-validated peak616 silencer [Gene]
  • LOC129388713:MPRA-validated peak617 silencer [Gene]
  • LOC129388714:MPRA-validated peak621 silencer [Gene]
  • LOC129388715:MPRA-validated peak624 silencer [Gene]
  • LOC129388716:MPRA-validated peak625 silencer [Gene]
  • LOC129388717:MPRA-validated peak626 silencer [Gene]
  • LOC129388718:MPRA-validated peak630 silencer [Gene]
  • LOC129388719:MPRA-validated peak631 silencer [Gene]
  • LOC129388720:MPRA-validated peak637 silencer [Gene]
  • LOC129388721:MPRA-validated peak638 silencer [Gene]
  • LOC129388722:MPRA-validated peak639 silencer [Gene]
  • LOC129388723:MPRA-validated peak640 silencer [Gene]
  • LOC129388724:MPRA-validated peak643 silencer [Gene]
  • NPL:N-acetylneuraminate pyruvate lyase [Gene - OMIM - HGNC]
  • LOC108318669:NCF2-ARPC5 intergenic ENCODE-defined enhancer [Gene]
  • LOC111501763:NFE2L2 motif-containing MPRA enhancer 281 [Gene]
  • NEK7:NIMA related kinase 7 [Gene - OMIM - HGNC]
  • NPHS2:NPHS2 stomatin family member, podocin [Gene - OMIM - HGNC]
  • LOC132088599:Neanderthal introgressed variant-containing enhancer experimental_1382 [Gene]
  • LOC132088600:Neanderthal introgressed variant-containing enhancer experimental_1383 [Gene]
  • LOC132088601:Neanderthal introgressed variant-containing enhancer experimental_1434 [Gene]
  • LOC132090670:Neanderthal introgressed variant-containing enhancer experimental_1475 [Gene]
  • LOC132088602:Neanderthal introgressed variant-containing enhancer experimental_1503 [Gene]
  • LOC126805941:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:181080957-181082156 [Gene]
  • LOC126805953:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:186156636-186157835 [Gene]
  • LOC126805962:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:193583455-193584654 [Gene]
  • LOC126805970:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:199241403-199242602 [Gene]
  • PDC-AS1:PDC antisense RNA 1 [Gene - HGNC]
  • PACERR:PTGS2 antisense NFKB1 complex-mediated expression regulator RNA [Gene - OMIM - HGNC]
  • LOC108281163:PTPRC intron CAGE-defined mid-level expression enhancer [Gene]
  • RGS2-AS1:RSG2 antisense RNA 1 [Gene - HGNC]
  • RO60:Ro60, Y RNA binding protein [Gene - OMIM - HGNC]
  • SHCBP1L:SHC binding and spindle associated 1 like [Gene - OMIM - HGNC]
  • SMG7-AS1:SMG7 antisense RNA 1 [Gene - HGNC]
  • SMG7:SMG7 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SWT1:SWT1 RNA endoribonuclease homolog [Gene - OMIM - HGNC]
  • LOC121725066:Sharpr-MPRA regulatory region 10342 [Gene]
  • LOC122149316:Sharpr-MPRA regulatory region 11809 [Gene]
  • LOC112577521:Sharpr-MPRA regulatory region 11944 [Gene]
  • LOC122149327:Sharpr-MPRA regulatory region 12313 [Gene]
  • LOC122149336:Sharpr-MPRA regulatory region 12429 [Gene]
  • LOC122149321:Sharpr-MPRA regulatory region 13543 [Gene]
  • LOC122149331:Sharpr-MPRA regulatory region 13721 [Gene]
  • LOC112577517:Sharpr-MPRA regulatory region 13766 [Gene]
  • LOC112577522:Sharpr-MPRA regulatory region 13835 [Gene]
  • LOC122149330:Sharpr-MPRA regulatory region 15579 [Gene]
  • LOC121725067:Sharpr-MPRA regulatory region 1679 [Gene]
  • LOC122149320:Sharpr-MPRA regulatory region 4291 [Gene]
  • LOC122149334:Sharpr-MPRA regulatory region 4625 [Gene]
  • LOC122149338:Sharpr-MPRA regulatory region 4677 [Gene]
  • LOC122149326:Sharpr-MPRA regulatory region 5056 [Gene]
  • LOC122149318:Sharpr-MPRA regulatory region 5219 [Gene]
  • LOC122149332:Sharpr-MPRA regulatory region 5305 [Gene]
  • LOC112577519:Sharpr-MPRA regulatory region 5358 [Gene]
  • LOC112577523:Sharpr-MPRA regulatory region 5628 [Gene]
  • LOC113939981:Sharpr-MPRA regulatory region 5860 [Gene]
  • LOC122149324:Sharpr-MPRA regulatory region 596 [Gene]
  • LOC122149323:Sharpr-MPRA regulatory region 7016 [Gene]
  • LOC122149322:Sharpr-MPRA regulatory region 7713 [Gene]
  • LOC122149319:Sharpr-MPRA regulatory region 790 [Gene]
  • LOC122149333:Sharpr-MPRA regulatory region 7925 [Gene]
  • LOC122149317:Sharpr-MPRA regulatory region 8031 [Gene]
  • LOC122149335:Sharpr-MPRA regulatory region 8052 [Gene]
  • LOC112577520:Sharpr-MPRA regulatory region 8189 [Gene]
  • LOC121725068:Sharpr-MPRA regulatory region 826 [Gene]
  • LOC122149325:Sharpr-MPRA regulatory region 8277 [Gene]
  • LOC122149329:Sharpr-MPRA regulatory region 834 [Gene]
  • LOC122149337:Sharpr-MPRA regulatory region 8821 [Gene]
  • LOC121725065:Sharpr-MPRA regulatory region 8966 [Gene]
  • LOC122149328:Sharpr-MPRA regulatory region 9576 [Gene]
  • LOC110121056:VISTA enhancer hs1322 [Gene]
  • LOC110121215:VISTA enhancer hs1862 [Gene]
  • ARPC5:actin related protein 2/3 complex subunit 5 [Gene - OMIM - HGNC]
  • ACBD6:acyl-CoA binding domain containing 6 [Gene - OMIM - HGNC]
  • APOBEC4:apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 [Gene - OMIM - HGNC]
  • ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
  • AXDND1:axonemal dynein light chain domain containing 1 [Gene - HGNC]
  • B3GALT2:beta-1,3-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • CACNA1E:calcium voltage-gated channel subunit alpha1 E [Gene - OMIM - HGNC]
  • CDC73:cell division cycle 73 [Gene - OMIM - HGNC]
  • CEP350:centrosomal protein 350 [Gene - OMIM - HGNC]
  • C1orf21:chromosome 1 open reading frame 21 [Gene - HGNC]
  • C1orf53:chromosome 1 open reading frame 53 [Gene - HGNC]
  • F13B:coagulation factor XIII B chain [Gene - OMIM - HGNC]
  • COLGALT2:collagen beta(1-O)galactosyltransferase 2 [Gene - OMIM - HGNC]
  • CFHR1:complement factor H related 1 [Gene - OMIM - HGNC]
  • CFHR2:complement factor H related 2 [Gene - OMIM - HGNC]
  • CFHR3:complement factor H related 3 [Gene - OMIM - HGNC]
  • CFHR4:complement factor H related 4 [Gene - OMIM - HGNC]
  • CFHR5:complement factor H related 5 [Gene - OMIM - HGNC]
  • CFH:complement factor H [Gene - OMIM - HGNC]
  • CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
  • FAM163A:family with sequence similarity 163 member A [Gene - OMIM - HGNC]
  • GLUL:glutamate-ammonia ligase [Gene - OMIM - HGNC]
  • GLRX2:glutaredoxin 2 [Gene - OMIM - HGNC]
  • HMCN1:hemicentin 1 [Gene - OMIM - HGNC]
  • IER5:immediate early response 5 [Gene - OMIM - HGNC]
  • IVNS1ABP:influenza virus NS1A binding protein [Gene - OMIM - HGNC]
  • LAMC1:laminin subunit gamma 1 [Gene - OMIM - HGNC]
  • LAMC2:laminin subunit gamma 2 [Gene - OMIM - HGNC]
  • LINC01031:long intergenic non-protein coding RNA 1031 [Gene - HGNC]
  • LINC01035:long intergenic non-protein coding RNA 1035 [Gene - HGNC]
  • LINC01036:long intergenic non-protein coding RNA 1036 [Gene - HGNC]
  • LINC01037:long intergenic non-protein coding RNA 1037 [Gene - HGNC]
  • LINC01221:long intergenic non-protein coding RNA 1221 [Gene - HGNC]
  • LINC01222:long intergenic non-protein coding RNA 1222 [Gene - HGNC]
  • LINC01344:long intergenic non-protein coding RNA 1344 [Gene - HGNC]
  • LINC01350:long intergenic non-protein coding RNA 1350 [Gene - HGNC]
  • LINC01633:long intergenic non-protein coding RNA 1633 [Gene - HGNC]
  • LINC01680:long intergenic non-protein coding RNA 1680 [Gene - HGNC]
  • LINC01686:long intergenic non-protein coding RNA 1686 [Gene - HGNC]
  • LINC01688:long intergenic non-protein coding RNA 1688 [Gene - HGNC]
  • LINC01699:long intergenic non-protein coding RNA 1699 [Gene - HGNC]
  • LINC01720:long intergenic non-protein coding RNA 1720 [Gene - HGNC]
  • LINC01724:long intergenic non-protein coding RNA 1724 [Gene - HGNC]
  • LINC01732:long intergenic non-protein coding RNA 1732 [Gene - HGNC]
  • LINC00272:long intergenic non-protein coding RNA 272 [Gene - HGNC]
  • LINC02770:long intergenic non-protein coding RNA 2770 [Gene - HGNC]
  • LINC02789:long intergenic non-protein coding RNA 2789 [Gene - HGNC]
  • LINC02816:long intergenic non-protein coding RNA 2816 [Gene - HGNC]
  • MR1:major histocompatibility complex, class I-related [Gene - OMIM - HGNC]
  • MIR12116:microRNA 12116 [Gene - HGNC]
  • MIR1278:microRNA 1278 [Gene - HGNC]
  • MIR181A1:microRNA 181a-1 [Gene - OMIM - HGNC]
  • MIR181B1:microRNA 181b-1 [Gene - OMIM - HGNC]
  • MIR3121:microRNA 3121 [Gene - HGNC]
  • MIR4426:microRNA 4426 [Gene - HGNC]
  • MIR4735:microRNA 4735 [Gene - HGNC]
  • NCF2:neutrophil cytosolic factor 2 [Gene - OMIM - HGNC]
  • NIBAN1:niban apoptosis regulator 1 [Gene - OMIM - HGNC]
  • NMNAT2:nicotinamide nucleotide adenylyltransferase 2 [Gene - OMIM - HGNC]
  • LOC108281185:nontranscribed DNase I hypersensitive site-defined enhancer upstream of RPS3AP9 [Gene]
  • OCLM:oculomedin [Gene - OMIM - HGNC]
  • ODR4:odr-4 GPCR localization factor homolog [Gene - OMIM - HGNC]
  • OVAAL:ovarian adenocarcinoma amplified long non-coding RNA [Gene - HGNC]
  • PDC:phosducin [Gene - OMIM - HGNC]
  • PLA2G4A:phospholipase A2 group IVA [Gene - OMIM - HGNC]
  • KCNT2:potassium sodium-activated channel subfamily T member 2 [Gene - OMIM - HGNC]
  • PTGS2:prostaglandin-endoperoxide synthase 2 [Gene - OMIM - HGNC]
  • PTPRC:protein tyrosine phosphatase receptor type C [Gene - OMIM - HGNC]
  • PRG4:proteoglycan 4 [Gene - OMIM - HGNC]
  • QSOX1:quiescin sulfhydryl oxidase 1 [Gene - OMIM - HGNC]
  • RGL1:ral guanine nucleotide dissociation stimulator like 1 [Gene - OMIM - HGNC]
  • RGS13:regulator of G protein signaling 13 [Gene - OMIM - HGNC]
  • RGS16:regulator of G protein signaling 16 [Gene - OMIM - HGNC]
  • RGS18:regulator of G protein signaling 18 [Gene - OMIM - HGNC]
  • RGS1:regulator of G protein signaling 1 [Gene - OMIM - HGNC]
  • RGS21:regulator of G protein signaling 21 [Gene - OMIM - HGNC]
  • RGS2:regulator of G protein signaling 2 [Gene - OMIM - HGNC]
  • RGS8:regulator of G protein signaling 8 [Gene - OMIM - HGNC]
  • RGSL1:regulator of G protein signaling like 1 [Gene - OMIM - HGNC]
  • RNASEL:ribonuclease L [Gene - OMIM - HGNC]
  • RNF2:ring finger protein 2 [Gene - OMIM - HGNC]
  • SCARNA18B:small Cajal body-specific RNA 18B [Gene - HGNC]
  • SOAT1:sterol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • STX6:syntaxin 6 [Gene - OMIM - HGNC]
  • TRMT1L:tRNA methyltransferase 1 like [Gene - OMIM - HGNC]
  • TSEN15:tRNA splicing endonuclease subunit 15 [Gene - OMIM - HGNC]
  • TOR1AIP1:torsin 1A interacting protein 1 [Gene - OMIM - HGNC]
  • TOR1AIP2:torsin 1A interacting protein 2 [Gene - OMIM - HGNC]
  • TOR3A:torsin family 3 member A [Gene - OMIM - HGNC]
  • TPR:translocated promoter region, nuclear basket protein [Gene - OMIM - HGNC]
  • TEDDM1:transmembrane epididymal protein 1 [Gene - OMIM - HGNC]
  • TDRD5:tudor domain containing 5 [Gene - OMIM - HGNC]
  • UCHL5:ubiquitin C-terminal hydrolase L5 [Gene - OMIM - HGNC]
  • GS1-204I12.4:uncharacterized GS1-204I12.4 [Gene]
  • LOC128071543:uncharacterized LOC128071543 [Gene]
  • XPR1:xenotropic and polytropic retrovirus receptor 1 [Gene - OMIM - HGNC]
  • ZBTB41:zinc finger and BTB domain containing 41 [Gene - HGNC]
  • ZNF648:zinc finger protein 648 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q25.2-32.1
Genomic location:
Preferred name:
GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1
HGVS:
  • NC_000001.11:g.(?_179032905)_(199724897_?)del
  • NC_000001.10:g.(?_179002040)_(199694025_?)del
  • NC_000001.9:g.(?_177268663)_(197960648_?)del
Links:
dbVar: nssv577236; dbVar: nsv532616
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
SCV000081311GeneDx
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 GeneDx, SCV000081311.4

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

Last Updated: Oct 14, 2023