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GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)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:
RCV000051027.5

Allele description [Variation Report for GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1]

GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1

Genes:
  • AKAIN1:A-kinase anchor inhibitor 1 [Gene - OMIM - HGNC]
  • AFG3L2:AFG3 like matrix AAA peptidase subunit 2 [Gene - OMIM - HGNC]
  • APCDD1:APC down-regulated 1 [Gene - OMIM - HGNC]
  • ARHGAP28-AS1:ARHGAP28 antisense RNA 1 [Gene - HGNC]
  • LOC130062072:ATAC-STARR-seq lymphoblastoid active region 13019 [Gene]
  • LOC130062074:ATAC-STARR-seq lymphoblastoid active region 13020 [Gene]
  • LOC130062077:ATAC-STARR-seq lymphoblastoid active region 13022 [Gene]
  • LOC130062080:ATAC-STARR-seq lymphoblastoid active region 13024 [Gene]
  • LOC130062081:ATAC-STARR-seq lymphoblastoid active region 13025 [Gene]
  • LOC130062082:ATAC-STARR-seq lymphoblastoid active region 13026 [Gene]
  • LOC130062085:ATAC-STARR-seq lymphoblastoid active region 13027 [Gene]
  • LOC130062089:ATAC-STARR-seq lymphoblastoid active region 13028 [Gene]
  • LOC130062090:ATAC-STARR-seq lymphoblastoid active region 13029 [Gene]
  • LOC130062091:ATAC-STARR-seq lymphoblastoid active region 13030 [Gene]
  • LOC130062092:ATAC-STARR-seq lymphoblastoid active region 13031 [Gene]
  • LOC130062093:ATAC-STARR-seq lymphoblastoid active region 13032 [Gene]
  • LOC130062094:ATAC-STARR-seq lymphoblastoid active region 13033 [Gene]
  • LOC130062095:ATAC-STARR-seq lymphoblastoid active region 13034 [Gene]
  • LOC130062096:ATAC-STARR-seq lymphoblastoid active region 13035 [Gene]
  • LOC130062098:ATAC-STARR-seq lymphoblastoid active region 13036 [Gene]
  • LOC130062099:ATAC-STARR-seq lymphoblastoid active region 13037 [Gene]
  • LOC130062100:ATAC-STARR-seq lymphoblastoid active region 13038 [Gene]
  • LOC130062101:ATAC-STARR-seq lymphoblastoid active region 13039 [Gene]
  • LOC130062102:ATAC-STARR-seq lymphoblastoid active region 13040 [Gene]
  • LOC130062104:ATAC-STARR-seq lymphoblastoid active region 13041 [Gene]
  • LOC130062105:ATAC-STARR-seq lymphoblastoid active region 13042 [Gene]
  • LOC130062107:ATAC-STARR-seq lymphoblastoid active region 13043 [Gene]
  • LOC130062112:ATAC-STARR-seq lymphoblastoid active region 13047 [Gene]
  • LOC130062113:ATAC-STARR-seq lymphoblastoid active region 13048 [Gene]
  • LOC130062114:ATAC-STARR-seq lymphoblastoid active region 13049 [Gene]
  • LOC130062115:ATAC-STARR-seq lymphoblastoid active region 13050 [Gene]
  • LOC130062116:ATAC-STARR-seq lymphoblastoid active region 13052 [Gene]
  • LOC130062117:ATAC-STARR-seq lymphoblastoid active region 13053 [Gene]
  • LOC130062121:ATAC-STARR-seq lymphoblastoid active region 13054 [Gene]
  • LOC130062122:ATAC-STARR-seq lymphoblastoid active region 13056 [Gene]
  • LOC130062126:ATAC-STARR-seq lymphoblastoid active region 13057 [Gene]
  • LOC130062127:ATAC-STARR-seq lymphoblastoid active region 13058 [Gene]
  • LOC130062128:ATAC-STARR-seq lymphoblastoid active region 13059 [Gene]
  • LOC130062129:ATAC-STARR-seq lymphoblastoid active region 13060 [Gene]
  • LOC130062132:ATAC-STARR-seq lymphoblastoid active region 13061 [Gene]
  • LOC130062136:ATAC-STARR-seq lymphoblastoid active region 13062 [Gene]
  • LOC130062139:ATAC-STARR-seq lymphoblastoid active region 13063 [Gene]
  • LOC130062141:ATAC-STARR-seq lymphoblastoid active region 13066 [Gene]
  • LOC130062142:ATAC-STARR-seq lymphoblastoid active region 13067 [Gene]
  • LOC130062143:ATAC-STARR-seq lymphoblastoid active region 13068 [Gene]
  • LOC130062144:ATAC-STARR-seq lymphoblastoid active region 13069 [Gene]
  • LOC130062146:ATAC-STARR-seq lymphoblastoid active region 13070 [Gene]
  • LOC130062148:ATAC-STARR-seq lymphoblastoid active region 13071 [Gene]
  • LOC130062150:ATAC-STARR-seq lymphoblastoid active region 13072 [Gene]
  • LOC130062153:ATAC-STARR-seq lymphoblastoid active region 13074 [Gene]
  • LOC130062154:ATAC-STARR-seq lymphoblastoid active region 13076 [Gene]
  • LOC130062158:ATAC-STARR-seq lymphoblastoid active region 13077 [Gene]
  • LOC130062162:ATAC-STARR-seq lymphoblastoid active region 13078 [Gene]
  • LOC130062165:ATAC-STARR-seq lymphoblastoid active region 13080 [Gene]
  • LOC130062166:ATAC-STARR-seq lymphoblastoid active region 13081 [Gene]
  • LOC130062167:ATAC-STARR-seq lymphoblastoid active region 13082 [Gene]
  • LOC130062169:ATAC-STARR-seq lymphoblastoid active region 13083 [Gene]
  • LOC130062170:ATAC-STARR-seq lymphoblastoid active region 13084 [Gene]
  • LOC130062171:ATAC-STARR-seq lymphoblastoid active region 13085 [Gene]
  • LOC130062172:ATAC-STARR-seq lymphoblastoid active region 13086 [Gene]
  • LOC130062173:ATAC-STARR-seq lymphoblastoid active region 13087 [Gene]
  • LOC130062174:ATAC-STARR-seq lymphoblastoid active region 13088 [Gene]
  • LOC130062175:ATAC-STARR-seq lymphoblastoid active region 13089 [Gene]
  • LOC130062176:ATAC-STARR-seq lymphoblastoid active region 13090 [Gene]
  • LOC130062177:ATAC-STARR-seq lymphoblastoid active region 13091 [Gene]
  • LOC130062178:ATAC-STARR-seq lymphoblastoid active region 13092 [Gene]
  • LOC130062180:ATAC-STARR-seq lymphoblastoid active region 13093 [Gene]
  • LOC130062181:ATAC-STARR-seq lymphoblastoid active region 13094 [Gene]
  • LOC130062185:ATAC-STARR-seq lymphoblastoid active region 13095 [Gene]
  • LOC130062186:ATAC-STARR-seq lymphoblastoid active region 13096 [Gene]
  • LOC130062188:ATAC-STARR-seq lymphoblastoid active region 13098 [Gene]
  • LOC130062190:ATAC-STARR-seq lymphoblastoid active region 13099 [Gene]
  • LOC130062192:ATAC-STARR-seq lymphoblastoid active region 13100 [Gene]
  • LOC130062203:ATAC-STARR-seq lymphoblastoid active region 13105 [Gene]
  • LOC130062204:ATAC-STARR-seq lymphoblastoid active region 13106 [Gene]
  • LOC130062205:ATAC-STARR-seq lymphoblastoid active region 13107 [Gene]
  • LOC130062206:ATAC-STARR-seq lymphoblastoid active region 13108 [Gene]
  • LOC130062207:ATAC-STARR-seq lymphoblastoid active region 13109 [Gene]
  • LOC130062208:ATAC-STARR-seq lymphoblastoid active region 13110 [Gene]
  • LOC130062209:ATAC-STARR-seq lymphoblastoid active region 13111 [Gene]
  • LOC130062216:ATAC-STARR-seq lymphoblastoid active region 13112 [Gene]
  • LOC130062220:ATAC-STARR-seq lymphoblastoid active region 13113 [Gene]
  • LOC130062224:ATAC-STARR-seq lymphoblastoid active region 13114 [Gene]
  • LOC130062225:ATAC-STARR-seq lymphoblastoid active region 13116 [Gene]
  • LOC130062227:ATAC-STARR-seq lymphoblastoid active region 13117 [Gene]
  • LOC130062228:ATAC-STARR-seq lymphoblastoid active region 13118 [Gene]
  • LOC130062229:ATAC-STARR-seq lymphoblastoid active region 13119 [Gene]
  • LOC130062230:ATAC-STARR-seq lymphoblastoid active region 13121 [Gene]
  • LOC130062231:ATAC-STARR-seq lymphoblastoid active region 13122 [Gene]
  • LOC130062232:ATAC-STARR-seq lymphoblastoid active region 13123 [Gene]
  • LOC130062233:ATAC-STARR-seq lymphoblastoid active region 13124 [Gene]
  • LOC130062234:ATAC-STARR-seq lymphoblastoid active region 13125 [Gene]
  • LOC130062235:ATAC-STARR-seq lymphoblastoid active region 13126 [Gene]
  • LOC130062236:ATAC-STARR-seq lymphoblastoid active region 13127 [Gene]
  • LOC130062070:ATAC-STARR-seq lymphoblastoid silent region 9236 [Gene]
  • LOC130062071:ATAC-STARR-seq lymphoblastoid silent region 9237 [Gene]
  • LOC130062073:ATAC-STARR-seq lymphoblastoid silent region 9238 [Gene]
  • LOC130062075:ATAC-STARR-seq lymphoblastoid silent region 9239 [Gene]
  • LOC130062076:ATAC-STARR-seq lymphoblastoid silent region 9242 [Gene]
  • LOC130062078:ATAC-STARR-seq lymphoblastoid silent region 9243 [Gene]
  • LOC130062079:ATAC-STARR-seq lymphoblastoid silent region 9244 [Gene]
  • LOC130062083:ATAC-STARR-seq lymphoblastoid silent region 9246 [Gene]
  • LOC130062084:ATAC-STARR-seq lymphoblastoid silent region 9247 [Gene]
  • LOC130062086:ATAC-STARR-seq lymphoblastoid silent region 9248 [Gene]
  • LOC130062087:ATAC-STARR-seq lymphoblastoid silent region 9249 [Gene]
  • LOC130062088:ATAC-STARR-seq lymphoblastoid silent region 9250 [Gene]
  • LOC130062097:ATAC-STARR-seq lymphoblastoid silent region 9251 [Gene]
  • LOC130062103:ATAC-STARR-seq lymphoblastoid silent region 9252 [Gene]
  • LOC130062106:ATAC-STARR-seq lymphoblastoid silent region 9253 [Gene]
  • LOC130062108:ATAC-STARR-seq lymphoblastoid silent region 9254 [Gene]
  • LOC130062109:ATAC-STARR-seq lymphoblastoid silent region 9255 [Gene]
  • LOC130062110:ATAC-STARR-seq lymphoblastoid silent region 9256 [Gene]
  • LOC130062111:ATAC-STARR-seq lymphoblastoid silent region 9257 [Gene]
  • LOC130062118:ATAC-STARR-seq lymphoblastoid silent region 9258 [Gene]
  • LOC130062119:ATAC-STARR-seq lymphoblastoid silent region 9259 [Gene]
  • LOC130062120:ATAC-STARR-seq lymphoblastoid silent region 9260 [Gene]
  • LOC130062123:ATAC-STARR-seq lymphoblastoid silent region 9263 [Gene]
  • LOC130062124:ATAC-STARR-seq lymphoblastoid silent region 9264 [Gene]
  • LOC130062125:ATAC-STARR-seq lymphoblastoid silent region 9265 [Gene]
  • LOC130062130:ATAC-STARR-seq lymphoblastoid silent region 9266 [Gene]
  • LOC130062131:ATAC-STARR-seq lymphoblastoid silent region 9267 [Gene]
  • LOC130062133:ATAC-STARR-seq lymphoblastoid silent region 9270 [Gene]
  • LOC130062134:ATAC-STARR-seq lymphoblastoid silent region 9271 [Gene]
  • LOC130062135:ATAC-STARR-seq lymphoblastoid silent region 9272 [Gene]
  • LOC130062137:ATAC-STARR-seq lymphoblastoid silent region 9273 [Gene]
  • LOC130062138:ATAC-STARR-seq lymphoblastoid silent region 9274 [Gene]
  • LOC130062140:ATAC-STARR-seq lymphoblastoid silent region 9276 [Gene]
  • LOC130062145:ATAC-STARR-seq lymphoblastoid silent region 9277 [Gene]
  • LOC130062147:ATAC-STARR-seq lymphoblastoid silent region 9278 [Gene]
  • LOC130062149:ATAC-STARR-seq lymphoblastoid silent region 9279 [Gene]
  • LOC130062151:ATAC-STARR-seq lymphoblastoid silent region 9280 [Gene]
  • LOC130062152:ATAC-STARR-seq lymphoblastoid silent region 9281 [Gene]
  • LOC130062155:ATAC-STARR-seq lymphoblastoid silent region 9284 [Gene]
  • LOC130062156:ATAC-STARR-seq lymphoblastoid silent region 9285 [Gene]
  • LOC130062157:ATAC-STARR-seq lymphoblastoid silent region 9286 [Gene]
  • LOC130062159:ATAC-STARR-seq lymphoblastoid silent region 9287 [Gene]
  • LOC130062160:ATAC-STARR-seq lymphoblastoid silent region 9288 [Gene]
  • LOC130062161:ATAC-STARR-seq lymphoblastoid silent region 9289 [Gene]
  • LOC130062163:ATAC-STARR-seq lymphoblastoid silent region 9290 [Gene]
  • LOC130062164:ATAC-STARR-seq lymphoblastoid silent region 9292 [Gene]
  • LOC130062168:ATAC-STARR-seq lymphoblastoid silent region 9293 [Gene]
  • LOC130062179:ATAC-STARR-seq lymphoblastoid silent region 9294 [Gene]
  • LOC130062182:ATAC-STARR-seq lymphoblastoid silent region 9297 [Gene]
  • LOC130062183:ATAC-STARR-seq lymphoblastoid silent region 9298 [Gene]
  • LOC130062184:ATAC-STARR-seq lymphoblastoid silent region 9299 [Gene]
  • LOC130062187:ATAC-STARR-seq lymphoblastoid silent region 9301 [Gene]
  • LOC130062189:ATAC-STARR-seq lymphoblastoid silent region 9304 [Gene]
  • LOC130062191:ATAC-STARR-seq lymphoblastoid silent region 9305 [Gene]
  • LOC130062193:ATAC-STARR-seq lymphoblastoid silent region 9306 [Gene]
  • LOC130062194:ATAC-STARR-seq lymphoblastoid silent region 9307 [Gene]
  • LOC130062195:ATAC-STARR-seq lymphoblastoid silent region 9308 [Gene]
  • LOC130062196:ATAC-STARR-seq lymphoblastoid silent region 9309 [Gene]
  • LOC130062197:ATAC-STARR-seq lymphoblastoid silent region 9310 [Gene]
  • LOC130062198:ATAC-STARR-seq lymphoblastoid silent region 9313 [Gene]
  • LOC130062199:ATAC-STARR-seq lymphoblastoid silent region 9314 [Gene]
  • LOC130062200:ATAC-STARR-seq lymphoblastoid silent region 9315 [Gene]
  • LOC130062201:ATAC-STARR-seq lymphoblastoid silent region 9317 [Gene]
  • LOC130062202:ATAC-STARR-seq lymphoblastoid silent region 9318 [Gene]
  • LOC130062210:ATAC-STARR-seq lymphoblastoid silent region 9319 [Gene]
  • LOC130062211:ATAC-STARR-seq lymphoblastoid silent region 9320 [Gene]
  • LOC130062212:ATAC-STARR-seq lymphoblastoid silent region 9321 [Gene]
  • LOC130062213:ATAC-STARR-seq lymphoblastoid silent region 9322 [Gene]
  • LOC130062214:ATAC-STARR-seq lymphoblastoid silent region 9323 [Gene]
  • LOC130062215:ATAC-STARR-seq lymphoblastoid silent region 9324 [Gene]
  • LOC130062217:ATAC-STARR-seq lymphoblastoid silent region 9326 [Gene]
  • LOC130062218:ATAC-STARR-seq lymphoblastoid silent region 9327 [Gene]
  • LOC130062219:ATAC-STARR-seq lymphoblastoid silent region 9328 [Gene]
  • LOC130062221:ATAC-STARR-seq lymphoblastoid silent region 9331 [Gene]
  • LOC130062222:ATAC-STARR-seq lymphoblastoid silent region 9332 [Gene]
  • LOC130062223:ATAC-STARR-seq lymphoblastoid silent region 9333 [Gene]
  • LOC130062226:ATAC-STARR-seq lymphoblastoid silent region 9334 [Gene]
  • LOC126862695:BRD4-independent group 4 enhancer GRCh37_chr18:10413718-10414917 [Gene]
  • LOC126862696:BRD4-independent group 4 enhancer GRCh37_chr18:10769534-10770733 [Gene]
  • LOC126862698:BRD4-independent group 4 enhancer GRCh37_chr18:13068543-13069742 [Gene]
  • LOC126862675:BRD4-independent group 4 enhancer GRCh37_chr18:394012-395211 [Gene]
  • LOC126862682:BRD4-independent group 4 enhancer GRCh37_chr18:5214004-5215203 [Gene]
  • LOC126862685:BRD4-independent group 4 enhancer GRCh37_chr18:6958646-6959845 [Gene]
  • LOC126862690:BRD4-independent group 4 enhancer GRCh37_chr18:8296475-8297674 [Gene]
  • LOC126862692:BRD4-independent group 4 enhancer GRCh37_chr18:8635328-8636527 [Gene]
  • LOC108318665:C18orf61 intron ENCODE-defined enhancer [Gene]
  • LOC126862678:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:2350584-2351783 [Gene]
  • LOC126862683:CDK7 strongly-dependent group 2 enhancer GRCh37_chr18:5395432-5396631 [Gene]
  • LOC116276486:CRISPRi-validated cis-regulatory element chr18.117 [Gene]
  • LOC116276487:CRISPRi-validated cis-regulatory element chr18.299 [Gene]
  • LOC116276488:CRISPRi-validated cis-regulatory element chr18.300 [Gene]
  • LOC116276489:CRISPRi-validated cis-regulatory element chr18.397 [Gene]
  • DLGAP1:DLG associated protein 1 [Gene - OMIM - HGNC]
  • DLGAP1-AS1:DLGAP1 antisense RNA 1 [Gene - HGNC]
  • DLGAP1-AS2:DLGAP1 antisense RNA 2 [Gene - HGNC]
  • DLGAP1-AS3:DLGAP1 antisense RNA 3 [Gene - HGNC]
  • DLGAP1-AS4:DLGAP1 antisense RNA 4 [Gene - HGNC]
  • DLGAP1-AS5:DLGAP1 antisense RNA 5 [Gene - HGNC]
  • GNAL:G protein subunit alpha L [Gene - OMIM - HGNC]
  • L3MBTL4:L3MBTL histone methyl-lysine binding protein 4 [Gene - OMIM - HGNC]
  • L3MBTL4-AS1:L3MBTL4 antisense RNA 1 [Gene - HGNC]
  • LDLRAD4-AS1:LDLRAD4 antisense RNA 1 [Gene - HGNC]
  • LOC126862677:MED14-independent group 3 enhancer GRCh37_chr18:1011056-1012255 [Gene]
  • LOC126862679:MED14-independent group 3 enhancer GRCh37_chr18:2589133-2590332 [Gene]
  • LOC126862680:MED14-independent group 3 enhancer GRCh37_chr18:3384732-3385931 [Gene]
  • LOC112543420:MED14-independent group 3 enhancer GRCh37_chr18:3652584-3653783 [Gene]
  • LOC126862684:MED14-independent group 3 enhancer GRCh37_chr18:5899993-5901192 [Gene]
  • LOC126862676:MED14-independent group 3 enhancer GRCh37_chr18:641155-642354 [Gene]
  • LOC126862686:MED14-independent group 3 enhancer GRCh37_chr18:7034687-7035886 [Gene]
  • LOC126862687:MED14-independent group 3 enhancer GRCh37_chr18:7727774-7728973 [Gene]
  • MIR3976HG:MIR3976 host gene [Gene - HGNC]
  • LOC129390951:MPRA-validated peak3036 silencer [Gene]
  • LOC129390952:MPRA-validated peak3040 silencer [Gene]
  • LOC129390953:MPRA-validated peak3042 silencer [Gene]
  • LOC129390954:MPRA-validated peak3043 silencer [Gene]
  • LOC129390955:MPRA-validated peak3044 silencer [Gene]
  • LOC129390956:MPRA-validated peak3045 silencer [Gene]
  • LOC129390957:MPRA-validated peak3053 silencer [Gene]
  • LOC129390958:MPRA-validated peak3058 silencer [Gene]
  • MYL12-AS1:MYL12A and MYL12B antisense RNA 1 [Gene - HGNC]
  • NDUFV2:NADH:ubiquinone oxidoreductase core subunit V2 [Gene - OMIM - HGNC]
  • NDC80:NDC80 kinetochore complex component [Gene - OMIM - HGNC]
  • NDUFV2-AS1:NDUFV2 antisense RNA 1 [Gene - HGNC]
  • NAPG:NSF attachment protein gamma [Gene - OMIM - HGNC]
  • LOC132090898:Neanderthal introgressed variant-containing enhancer experimental_47746 [Gene]
  • LOC132090486:Neanderthal introgressed variant-containing enhancer experimental_47754 [Gene]
  • LOC132090487:Neanderthal introgressed variant-containing enhancer experimental_47822 [Gene]
  • LOC132090897:Neanderthal introgressed variant-containing enhancer experimental_47861 [Gene]
  • LOC132090489:Neanderthal introgressed variant-containing enhancer experimental_47879 [Gene]
  • LOC132090531:Neanderthal introgressed variant-containing enhancer experimental_50729 [Gene]
  • LOC126862697:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:11856862-11858061 [Gene]
  • LOC126862699:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13375117-13376316 [Gene]
  • LOC126862700:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13672949-13674148 [Gene]
  • LOC126862701:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:13675367-13676566 [Gene]
  • LOC126862681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3603326-3604525 [Gene]
  • LOC125338470:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:3623835-3625034 [Gene]
  • LOC112543434:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:7038146-7039345 [Gene]
  • LOC126862688:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8045403-8046602 [Gene]
  • LOC126862689:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8141627-8142826 [Gene]
  • LOC126862691:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8521740-8522939 [Gene]
  • LOC126862693:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:8800176-8801375 [Gene]
  • LOC126862694:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:9017064-9018263 [Gene]
  • PPP4R1-AS1:PPP4R1 antisense RNA 1 [Gene - HGNC]
  • PRELID3A:PRELI domain containing 3A [Gene - OMIM - HGNC]
  • RAB12:RAB12, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB31:RAB31, member RAS oncogene family [Gene - OMIM - HGNC]
  • ARHGAP28:Rho GTPase activating protein 28 [Gene - OMIM - HGNC]
  • SEH1L:SEH1 like nucleoporin [Gene - OMIM - HGNC]
  • LOC112543435:Sharpr-MPRA regulatory region 10096 [Gene]
  • LOC112540018:Sharpr-MPRA regulatory region 10665 [Gene]
  • LOC121627821:Sharpr-MPRA regulatory region 11006 [Gene]
  • LOC125368544:Sharpr-MPRA regulatory region 1128 [Gene]
  • LOC125338464:Sharpr-MPRA regulatory region 12050 [Gene]
  • LOC112543431:Sharpr-MPRA regulatory region 12053 [Gene]
  • LOC125368542:Sharpr-MPRA regulatory region 12110 [Gene]
  • LOC112543436:Sharpr-MPRA regulatory region 12333 [Gene]
  • LOC125368553:Sharpr-MPRA regulatory region 1453 [Gene]
  • LOC125338461:Sharpr-MPRA regulatory region 14540 [Gene]
  • LOC125338459:Sharpr-MPRA regulatory region 14658 [Gene]
  • LOC125368546:Sharpr-MPRA regulatory region 14785 [Gene]
  • LOC125368550:Sharpr-MPRA regulatory region 1882 [Gene]
  • LOC121627822:Sharpr-MPRA regulatory region 1937 [Gene]
  • LOC125338467:Sharpr-MPRA regulatory region 2253 [Gene]
  • LOC125338465:Sharpr-MPRA regulatory region 3375 [Gene]
  • LOC125368543:Sharpr-MPRA regulatory region 3848 [Gene]
  • LOC125338466:Sharpr-MPRA regulatory region 4192 [Gene]
  • LOC112543423:Sharpr-MPRA regulatory region 437 [Gene]
  • LOC112538445:Sharpr-MPRA regulatory region 4434 [Gene]
  • LOC112543437:Sharpr-MPRA regulatory region 4522 [Gene]
  • LOC125338468:Sharpr-MPRA regulatory region 485 [Gene]
  • LOC112538442:Sharpr-MPRA regulatory region 5202 [Gene]
  • LOC125338463:Sharpr-MPRA regulatory region 5248 [Gene]
  • LOC121627823:Sharpr-MPRA regulatory region 5399 [Gene]
  • LOC125338462:Sharpr-MPRA regulatory region 5473 [Gene]
  • LOC112538443:Sharpr-MPRA regulatory region 6122 [Gene]
  • LOC125338471:Sharpr-MPRA regulatory region 6172 [Gene]
  • LOC121852958:Sharpr-MPRA regulatory region 6254 [Gene]
  • LOC125368552:Sharpr-MPRA regulatory region 6698 [Gene]
  • LOC125338460:Sharpr-MPRA regulatory region 6782 [Gene]
  • LOC125368548:Sharpr-MPRA regulatory region 7933 [Gene]
  • LOC125338469:Sharpr-MPRA regulatory region 8249 [Gene]
  • LOC125368541:Sharpr-MPRA regulatory region 9307 [Gene]
  • LOC125368551:Sharpr-MPRA regulatory region 933 [Gene]
  • LOC125368547:Sharpr-MPRA regulatory region 95 [Gene]
  • LOC112543419:Sharpr-MPRA regulatory region 9674 [Gene]
  • TGIF1:TGFB induced factor homeobox 1 [Gene - OMIM - HGNC]
  • THOC1:THO complex subunit 1 [Gene - OMIM - HGNC]
  • TWSG1-DT:TWSG1 divergent transcript [Gene - HGNC]
  • TYMSOS:TYMS opposite strand RNA [Gene - HGNC]
  • VAPA:VAMP associated protein A [Gene - OMIM - HGNC]
  • LOC110121440:VISTA enhancer hs1751 [Gene]
  • YES1:YES proto-oncogene 1, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • ADCYAP1:adenylate cyclase activating polypeptide 1 [Gene - OMIM - HGNC]
  • ANKRD12:ankyrin repeat domain 12 [Gene - OMIM - HGNC]
  • ANKRD62:ankyrin repeat domain 62 [Gene - HGNC]
  • CIDEA:cell death inducing DFFA like effector a [Gene - OMIM - HGNC]
  • CETN1:centrin 1 [Gene - OMIM - HGNC]
  • CEP192:centrosomal protein 192 [Gene - OMIM - HGNC]
  • CEP76:centrosomal protein 76 [Gene - HGNC]
  • CHMP1B:charged multivesicular body protein 1B [Gene - OMIM - HGNC]
  • C18orf15:chromosome 18 putative open reading frame 15 [Gene - HGNC]
  • CLUL1:clusterin like 1 [Gene - OMIM - HGNC]
  • COLEC12:collectin subfamily member 12 [Gene - OMIM - HGNC]
  • EMILIN2:elastin microfibril interfacer 2 [Gene - OMIM - HGNC]
  • ENOSF1:enolase superfamily member 1 [Gene - OMIM - HGNC]
  • EPB41L3:erythrocyte membrane protein band 4.1 like 3 [Gene - OMIM - HGNC]
  • FAM210A:family with sequence similarity 210 member A [Gene - OMIM - HGNC]
  • GAPLINC:gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA [Gene - HGNC]
  • GACAT2:gastric cancer associated transcript 2 [Gene - OMIM - HGNC]
  • IMPA2:inositol monophosphatase 2 [Gene - OMIM - HGNC]
  • LAMA1:laminin subunit alpha 1 [Gene - OMIM - HGNC]
  • LRRC30:leucine rich repeat containing 30 [Gene - HGNC]
  • LPIN2:lipin 2 [Gene - OMIM - HGNC]
  • LINC01254:long intergenic non-protein coding RNA 1254 [Gene - HGNC]
  • LINC01255:long intergenic non-protein coding RNA 1255 [Gene - HGNC]
  • LINC01387:long intergenic non-protein coding RNA 1387 [Gene - HGNC]
  • LINC01882:long intergenic non-protein coding RNA 1882 [Gene - HGNC]
  • LINC01887:long intergenic non-protein coding RNA 1887 [Gene - HGNC]
  • LINC01892:long intergenic non-protein coding RNA 1892 [Gene - HGNC]
  • LINC01895:long intergenic non-protein coding RNA 1895 [Gene - HGNC]
  • LINC01904:long intergenic non-protein coding RNA 1904 [Gene - HGNC]
  • LINC01925:long intergenic non-protein coding RNA 1925 [Gene - HGNC]
  • LINC01928:long intergenic non-protein coding RNA 1928 [Gene - HGNC]
  • LINC00470:long intergenic non-protein coding RNA 470 [Gene - HGNC]
  • LINC00526:long intergenic non-protein coding RNA 526 [Gene - HGNC]
  • LINC00667:long intergenic non-protein coding RNA 667 [Gene - HGNC]
  • LINC00668:long intergenic non-protein coding RNA 668 [Gene - HGNC]
  • LDLRAD4:low density lipoprotein receptor class A domain containing 4 [Gene - OMIM - HGNC]
  • MPPE1:metallophosphoesterase 1 [Gene - OMIM - HGNC]
  • METTL4:methyltransferase 4, N6-adenosine [Gene - OMIM - HGNC]
  • MIR3976:microRNA 3976 [Gene - HGNC]
  • MIR4317:microRNA 4317 [Gene - HGNC]
  • MIR4526:microRNA 4526 [Gene - HGNC]
  • MIR5190:microRNA 5190 [Gene - HGNC]
  • MIR6718:microRNA 6718 [Gene - HGNC]
  • MIR6788:microRNA 6788 [Gene - HGNC]
  • MIR7153:microRNA 7153 [Gene - HGNC]
  • MTCL1:microtubule crosslinking factor 1 [Gene - OMIM - HGNC]
  • MYOM1:myomesin 1 [Gene - OMIM - HGNC]
  • MYL12A:myosin light chain 12A [Gene - HGNC]
  • MYL12B:myosin light chain 12B [Gene - OMIM - HGNC]
  • PIEZO2:piezo type mechanosensitive ion channel component 2 [Gene - OMIM - HGNC]
  • PSMG2:proteasome assembly chaperone 2 [Gene - OMIM - HGNC]
  • PPP4R1:protein phosphatase 4 regulatory subunit 1 [Gene - OMIM - HGNC]
  • PTPN2:protein tyrosine phosphatase non-receptor type 2 [Gene - OMIM - HGNC]
  • PTPRM:protein tyrosine phosphatase receptor type M [Gene - OMIM - HGNC]
  • RALBP1:ralA binding protein 1 [Gene - OMIM - HGNC]
  • SLC35G4:solute carrier family 35 member G4 [Gene - HGNC]
  • SPIRE1:spire type actin nucleation factor 1 [Gene - OMIM - HGNC]
  • SMCHD1:structural maintenance of chromosomes flexible hinge domain containing 1 [Gene - OMIM - HGNC]
  • TXNDC2:thioredoxin domain containing 2 [Gene - OMIM - HGNC]
  • TYMS:thymidylate synthetase [Gene - OMIM - HGNC]
  • TMEM200C:transmembrane protein 200C [Gene - HGNC]
  • TUBB6:tubulin beta 6 class V [Gene - OMIM - HGNC]
  • TWSG1:twisted gastrulation BMP signaling modulator 1 [Gene - OMIM - HGNC]
  • USP14:ubiquitin specific peptidase 14 [Gene - OMIM - HGNC]
  • LOC100192426:uncharacterized LOC100192426 [Gene]
  • LOC101927188:uncharacterized LOC101927188 [Gene]
  • LOC101927410:uncharacterized LOC101927410 [Gene]
  • LOC105371967:uncharacterized LOC105371967 [Gene]
  • LOC105371995:uncharacterized LOC105371995 [Gene]
  • LOC105371998:uncharacterized LOC105371998 [Gene]
  • LOC112577592:uncharacterized LOC112577592 [Gene]
  • LOC121725015:uncharacterized LOC121725015 [Gene]
  • C18orf61:uncharacterized LOC497259 [Gene]
  • ZBTB14:zinc finger and BTB domain containing 14 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
18p11.32-11.21
Genomic location:
Preferred name:
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1
HGVS:
  • NC_000018.10:g.(?_148963)_(13715860_?)del
  • NC_000018.8:g.(?_138963)_(13705859_?)del
  • NC_000018.9:g.(?_148963)_(13715859_?)del
Links:
dbVar: nssv577623; dbVar: nsv529587
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
SCV000078363ISCA 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, SCV000078363.4

#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