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GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)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:
RCV000051608.4

Allele description [Variation Report for GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1]

GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1

Genes:
  • BDH1:3-hydroxybutyrate dehydrogenase 1 [Gene - OMIM - HGNC]
  • ADIPOQ-AS1:ADIPOQ antisense RNA 1 [Gene - HGNC]
  • LOC129938080:ATAC-STARR-seq lymphoblastoid active region 20925 [Gene]
  • LOC129938081:ATAC-STARR-seq lymphoblastoid active region 20926 [Gene]
  • LOC129938085:ATAC-STARR-seq lymphoblastoid active region 20931 [Gene]
  • LOC129938086:ATAC-STARR-seq lymphoblastoid active region 20932 [Gene]
  • LOC129938088:ATAC-STARR-seq lymphoblastoid active region 20933 [Gene]
  • LOC129938089:ATAC-STARR-seq lymphoblastoid active region 20934 [Gene]
  • LOC129938090:ATAC-STARR-seq lymphoblastoid active region 20935 [Gene]
  • LOC129938091:ATAC-STARR-seq lymphoblastoid active region 20936 [Gene]
  • LOC129938092:ATAC-STARR-seq lymphoblastoid active region 20937 [Gene]
  • LOC129938096:ATAC-STARR-seq lymphoblastoid active region 20938 [Gene]
  • LOC129938097:ATAC-STARR-seq lymphoblastoid active region 20939 [Gene]
  • LOC129938098:ATAC-STARR-seq lymphoblastoid active region 20940 [Gene]
  • LOC129938099:ATAC-STARR-seq lymphoblastoid active region 20941 [Gene]
  • LOC129938101:ATAC-STARR-seq lymphoblastoid active region 20942 [Gene]
  • LOC129938104:ATAC-STARR-seq lymphoblastoid active region 20943 [Gene]
  • LOC129938107:ATAC-STARR-seq lymphoblastoid active region 20946 [Gene]
  • LOC129938108:ATAC-STARR-seq lymphoblastoid active region 20947 [Gene]
  • LOC129938109:ATAC-STARR-seq lymphoblastoid active region 20948 [Gene]
  • LOC129938110:ATAC-STARR-seq lymphoblastoid active region 20949 [Gene]
  • LOC129938112:ATAC-STARR-seq lymphoblastoid active region 20951 [Gene]
  • LOC129938113:ATAC-STARR-seq lymphoblastoid active region 20952 [Gene]
  • LOC129938114:ATAC-STARR-seq lymphoblastoid active region 20953 [Gene]
  • LOC129938115:ATAC-STARR-seq lymphoblastoid active region 20954 [Gene]
  • LOC129938116:ATAC-STARR-seq lymphoblastoid active region 20955 [Gene]
  • LOC129938117:ATAC-STARR-seq lymphoblastoid active region 20956 [Gene]
  • LOC129938118:ATAC-STARR-seq lymphoblastoid active region 20957 [Gene]
  • LOC129938119:ATAC-STARR-seq lymphoblastoid active region 20958 [Gene]
  • LOC129938121:ATAC-STARR-seq lymphoblastoid active region 20959 [Gene]
  • LOC129938122:ATAC-STARR-seq lymphoblastoid active region 20960 [Gene]
  • LOC129938123:ATAC-STARR-seq lymphoblastoid active region 20961 [Gene]
  • LOC129938124:ATAC-STARR-seq lymphoblastoid active region 20962 [Gene]
  • LOC129938125:ATAC-STARR-seq lymphoblastoid active region 20963 [Gene]
  • LOC129938127:ATAC-STARR-seq lymphoblastoid active region 20964 [Gene]
  • LOC129938128:ATAC-STARR-seq lymphoblastoid active region 20965 [Gene]
  • LOC129938129:ATAC-STARR-seq lymphoblastoid active region 20966 [Gene]
  • LOC129938130:ATAC-STARR-seq lymphoblastoid active region 20968 [Gene]
  • LOC129938132:ATAC-STARR-seq lymphoblastoid active region 20969 [Gene]
  • LOC129938133:ATAC-STARR-seq lymphoblastoid active region 20970 [Gene]
  • LOC129938134:ATAC-STARR-seq lymphoblastoid active region 20971 [Gene]
  • LOC129938135:ATAC-STARR-seq lymphoblastoid active region 20972 [Gene]
  • LOC129938136:ATAC-STARR-seq lymphoblastoid active region 20973 [Gene]
  • LOC129938137:ATAC-STARR-seq lymphoblastoid active region 20974 [Gene]
  • LOC129938139:ATAC-STARR-seq lymphoblastoid active region 20975 [Gene]
  • LOC129938141:ATAC-STARR-seq lymphoblastoid active region 20977 [Gene]
  • LOC129938142:ATAC-STARR-seq lymphoblastoid active region 20978 [Gene]
  • LOC129938143:ATAC-STARR-seq lymphoblastoid active region 20979 [Gene]
  • LOC129938144:ATAC-STARR-seq lymphoblastoid active region 20980 [Gene]
  • LOC129938145:ATAC-STARR-seq lymphoblastoid active region 20981 [Gene]
  • LOC129938146:ATAC-STARR-seq lymphoblastoid active region 20982 [Gene]
  • LOC129938150:ATAC-STARR-seq lymphoblastoid active region 20983 [Gene]
  • LOC129938151:ATAC-STARR-seq lymphoblastoid active region 20984 [Gene]
  • LOC129938152:ATAC-STARR-seq lymphoblastoid active region 20985 [Gene]
  • LOC129938154:ATAC-STARR-seq lymphoblastoid active region 20986 [Gene]
  • LOC129938156:ATAC-STARR-seq lymphoblastoid active region 20987 [Gene]
  • LOC129938157:ATAC-STARR-seq lymphoblastoid active region 20988 [Gene]
  • LOC129938158:ATAC-STARR-seq lymphoblastoid active region 20989 [Gene]
  • LOC129938159:ATAC-STARR-seq lymphoblastoid active region 20990 [Gene]
  • LOC129938162:ATAC-STARR-seq lymphoblastoid active region 20991 [Gene]
  • LOC129938163:ATAC-STARR-seq lymphoblastoid active region 20992 [Gene]
  • LOC129938164:ATAC-STARR-seq lymphoblastoid active region 20993 [Gene]
  • LOC129938165:ATAC-STARR-seq lymphoblastoid active region 20994 [Gene]
  • LOC129938166:ATAC-STARR-seq lymphoblastoid active region 20995 [Gene]
  • LOC129938167:ATAC-STARR-seq lymphoblastoid active region 20996 [Gene]
  • LOC129938168:ATAC-STARR-seq lymphoblastoid active region 20997 [Gene]
  • LOC129938169:ATAC-STARR-seq lymphoblastoid active region 20998 [Gene]
  • LOC129938170:ATAC-STARR-seq lymphoblastoid active region 20999 [Gene]
  • LOC129938171:ATAC-STARR-seq lymphoblastoid active region 21000 [Gene]
  • LOC129938174:ATAC-STARR-seq lymphoblastoid active region 21004 [Gene]
  • LOC129938175:ATAC-STARR-seq lymphoblastoid active region 21005 [Gene]
  • LOC129938176:ATAC-STARR-seq lymphoblastoid active region 21006 [Gene]
  • LOC129938177:ATAC-STARR-seq lymphoblastoid active region 21007 [Gene]
  • LOC129938179:ATAC-STARR-seq lymphoblastoid active region 21008 [Gene]
  • LOC129938180:ATAC-STARR-seq lymphoblastoid active region 21009 [Gene]
  • LOC129938181:ATAC-STARR-seq lymphoblastoid active region 21010 [Gene]
  • LOC129938183:ATAC-STARR-seq lymphoblastoid active region 21011 [Gene]
  • LOC129938185:ATAC-STARR-seq lymphoblastoid active region 21012 [Gene]
  • LOC129938186:ATAC-STARR-seq lymphoblastoid active region 21013 [Gene]
  • LOC129938187:ATAC-STARR-seq lymphoblastoid active region 21014 [Gene]
  • LOC129938191:ATAC-STARR-seq lymphoblastoid active region 21016 [Gene]
  • LOC129938192:ATAC-STARR-seq lymphoblastoid active region 21017 [Gene]
  • LOC129938195:ATAC-STARR-seq lymphoblastoid active region 21018 [Gene]
  • LOC129938196:ATAC-STARR-seq lymphoblastoid active region 21019 [Gene]
  • LOC129938197:ATAC-STARR-seq lymphoblastoid active region 21020 [Gene]
  • LOC129938202:ATAC-STARR-seq lymphoblastoid active region 21022 [Gene]
  • LOC129938203:ATAC-STARR-seq lymphoblastoid active region 21023 [Gene]
  • LOC129938204:ATAC-STARR-seq lymphoblastoid active region 21024 [Gene]
  • LOC129938205:ATAC-STARR-seq lymphoblastoid active region 21025 [Gene]
  • LOC129938206:ATAC-STARR-seq lymphoblastoid active region 21026 [Gene]
  • LOC129938207:ATAC-STARR-seq lymphoblastoid active region 21027 [Gene]
  • LOC129938208:ATAC-STARR-seq lymphoblastoid active region 21029 [Gene]
  • LOC129938209:ATAC-STARR-seq lymphoblastoid active region 21030 [Gene]
  • LOC129938211:ATAC-STARR-seq lymphoblastoid active region 21031 [Gene]
  • LOC129938212:ATAC-STARR-seq lymphoblastoid active region 21032 [Gene]
  • LOC129938213:ATAC-STARR-seq lymphoblastoid active region 21033 [Gene]
  • LOC129938215:ATAC-STARR-seq lymphoblastoid active region 21034 [Gene]
  • LOC129938216:ATAC-STARR-seq lymphoblastoid active region 21035 [Gene]
  • LOC129938217:ATAC-STARR-seq lymphoblastoid active region 21036 [Gene]
  • LOC129938218:ATAC-STARR-seq lymphoblastoid active region 21037 [Gene]
  • LOC129938219:ATAC-STARR-seq lymphoblastoid active region 21038 [Gene]
  • LOC129938220:ATAC-STARR-seq lymphoblastoid active region 21039 [Gene]
  • LOC129938221:ATAC-STARR-seq lymphoblastoid active region 21040 [Gene]
  • LOC129938223:ATAC-STARR-seq lymphoblastoid active region 21042 [Gene]
  • LOC129938224:ATAC-STARR-seq lymphoblastoid active region 21043 [Gene]
  • LOC129938225:ATAC-STARR-seq lymphoblastoid active region 21044 [Gene]
  • LOC129938226:ATAC-STARR-seq lymphoblastoid active region 21045 [Gene]
  • LOC129938227:ATAC-STARR-seq lymphoblastoid active region 21046 [Gene]
  • LOC129938228:ATAC-STARR-seq lymphoblastoid active region 21047 [Gene]
  • LOC129938229:ATAC-STARR-seq lymphoblastoid active region 21048 [Gene]
  • LOC129938230:ATAC-STARR-seq lymphoblastoid active region 21049 [Gene]
  • LOC129938231:ATAC-STARR-seq lymphoblastoid active region 21050 [Gene]
  • LOC129938232:ATAC-STARR-seq lymphoblastoid active region 21051 [Gene]
  • LOC129938233:ATAC-STARR-seq lymphoblastoid active region 21052 [Gene]
  • LOC129938235:ATAC-STARR-seq lymphoblastoid active region 21053 [Gene]
  • LOC129938238:ATAC-STARR-seq lymphoblastoid active region 21054 [Gene]
  • LOC129938239:ATAC-STARR-seq lymphoblastoid active region 21055 [Gene]
  • LOC129938241:ATAC-STARR-seq lymphoblastoid active region 21056 [Gene]
  • LOC129938242:ATAC-STARR-seq lymphoblastoid active region 21057 [Gene]
  • LOC129938244:ATAC-STARR-seq lymphoblastoid active region 21058 [Gene]
  • LOC129938248:ATAC-STARR-seq lymphoblastoid active region 21059 [Gene]
  • LOC129938249:ATAC-STARR-seq lymphoblastoid active region 21060 [Gene]
  • LOC129938250:ATAC-STARR-seq lymphoblastoid active region 21061 [Gene]
  • LOC129938251:ATAC-STARR-seq lymphoblastoid active region 21062 [Gene]
  • LOC129938255:ATAC-STARR-seq lymphoblastoid active region 21063 [Gene]
  • LOC129938257:ATAC-STARR-seq lymphoblastoid active region 21064 [Gene]
  • LOC129938264:ATAC-STARR-seq lymphoblastoid active region 21065 [Gene]
  • LOC129938267:ATAC-STARR-seq lymphoblastoid active region 21066 [Gene]
  • LOC129938268:ATAC-STARR-seq lymphoblastoid active region 21067 [Gene]
  • LOC129938269:ATAC-STARR-seq lymphoblastoid active region 21068 [Gene]
  • LOC129938270:ATAC-STARR-seq lymphoblastoid active region 21069 [Gene]
  • LOC129938272:ATAC-STARR-seq lymphoblastoid active region 21070 [Gene]
  • LOC129938273:ATAC-STARR-seq lymphoblastoid active region 21071 [Gene]
  • LOC129938274:ATAC-STARR-seq lymphoblastoid active region 21072 [Gene]
  • LOC129938275:ATAC-STARR-seq lymphoblastoid active region 21076 [Gene]
  • LOC129938276:ATAC-STARR-seq lymphoblastoid active region 21077 [Gene]
  • LOC129938279:ATAC-STARR-seq lymphoblastoid active region 21081 [Gene]
  • LOC129938280:ATAC-STARR-seq lymphoblastoid active region 21082 [Gene]
  • LOC129938281:ATAC-STARR-seq lymphoblastoid active region 21083 [Gene]
  • LOC129938283:ATAC-STARR-seq lymphoblastoid active region 21086 [Gene]
  • LOC129938285:ATAC-STARR-seq lymphoblastoid active region 21087 [Gene]
  • LOC129938288:ATAC-STARR-seq lymphoblastoid active region 21090 [Gene]
  • LOC129938289:ATAC-STARR-seq lymphoblastoid active region 21091 [Gene]
  • LOC129938290:ATAC-STARR-seq lymphoblastoid active region 21092 [Gene]
  • LOC129938292:ATAC-STARR-seq lymphoblastoid active region 21095 [Gene]
  • LOC129938295:ATAC-STARR-seq lymphoblastoid active region 21096 [Gene]
  • LOC129938298:ATAC-STARR-seq lymphoblastoid active region 21097 [Gene]
  • LOC129938299:ATAC-STARR-seq lymphoblastoid active region 21098 [Gene]
  • LOC129938300:ATAC-STARR-seq lymphoblastoid active region 21099 [Gene]
  • LOC129938301:ATAC-STARR-seq lymphoblastoid active region 21100 [Gene]
  • LOC129938302:ATAC-STARR-seq lymphoblastoid active region 21101 [Gene]
  • LOC129938305:ATAC-STARR-seq lymphoblastoid active region 21106 [Gene]
  • LOC129938309:ATAC-STARR-seq lymphoblastoid active region 21107 [Gene]
  • LOC129938314:ATAC-STARR-seq lymphoblastoid active region 21108 [Gene]
  • LOC129938315:ATAC-STARR-seq lymphoblastoid active region 21111 [Gene]
  • LOC129938318:ATAC-STARR-seq lymphoblastoid active region 21112 [Gene]
  • LOC129938319:ATAC-STARR-seq lymphoblastoid active region 21114 [Gene]
  • LOC129938320:ATAC-STARR-seq lymphoblastoid active region 21115 [Gene]
  • LOC129938323:ATAC-STARR-seq lymphoblastoid active region 21116 [Gene]
  • LOC129938324:ATAC-STARR-seq lymphoblastoid active region 21118 [Gene]
  • LOC129938325:ATAC-STARR-seq lymphoblastoid active region 21119 [Gene]
  • LOC129938326:ATAC-STARR-seq lymphoblastoid active region 21120 [Gene]
  • LOC129938327:ATAC-STARR-seq lymphoblastoid active region 21121 [Gene]
  • LOC129938329:ATAC-STARR-seq lymphoblastoid active region 21122 [Gene]
  • LOC129938079:ATAC-STARR-seq lymphoblastoid silent region 14975 [Gene]
  • LOC129938082:ATAC-STARR-seq lymphoblastoid silent region 14976 [Gene]
  • LOC129938083:ATAC-STARR-seq lymphoblastoid silent region 14977 [Gene]
  • LOC129938084:ATAC-STARR-seq lymphoblastoid silent region 14978 [Gene]
  • LOC129938087:ATAC-STARR-seq lymphoblastoid silent region 14981 [Gene]
  • LOC129938093:ATAC-STARR-seq lymphoblastoid silent region 14982 [Gene]
  • LOC129938094:ATAC-STARR-seq lymphoblastoid silent region 14983 [Gene]
  • LOC129938095:ATAC-STARR-seq lymphoblastoid silent region 14984 [Gene]
  • LOC129938100:ATAC-STARR-seq lymphoblastoid silent region 14985 [Gene]
  • LOC129938102:ATAC-STARR-seq lymphoblastoid silent region 14986 [Gene]
  • LOC129938103:ATAC-STARR-seq lymphoblastoid silent region 14987 [Gene]
  • LOC129938105:ATAC-STARR-seq lymphoblastoid silent region 14988 [Gene]
  • LOC129938106:ATAC-STARR-seq lymphoblastoid silent region 14990 [Gene]
  • LOC129938111:ATAC-STARR-seq lymphoblastoid silent region 14991 [Gene]
  • LOC129938120:ATAC-STARR-seq lymphoblastoid silent region 14992 [Gene]
  • LOC129938126:ATAC-STARR-seq lymphoblastoid silent region 14993 [Gene]
  • LOC129938131:ATAC-STARR-seq lymphoblastoid silent region 14994 [Gene]
  • LOC129938138:ATAC-STARR-seq lymphoblastoid silent region 14995 [Gene]
  • LOC129938140:ATAC-STARR-seq lymphoblastoid silent region 14996 [Gene]
  • LOC129938147:ATAC-STARR-seq lymphoblastoid silent region 14997 [Gene]
  • LOC129938148:ATAC-STARR-seq lymphoblastoid silent region 14998 [Gene]
  • LOC129938149:ATAC-STARR-seq lymphoblastoid silent region 14999 [Gene]
  • LOC129938153:ATAC-STARR-seq lymphoblastoid silent region 15001 [Gene]
  • LOC129938155:ATAC-STARR-seq lymphoblastoid silent region 15002 [Gene]
  • LOC129938160:ATAC-STARR-seq lymphoblastoid silent region 15005 [Gene]
  • LOC129938161:ATAC-STARR-seq lymphoblastoid silent region 15006 [Gene]
  • LOC129938172:ATAC-STARR-seq lymphoblastoid silent region 15007 [Gene]
  • LOC129938173:ATAC-STARR-seq lymphoblastoid silent region 15008 [Gene]
  • LOC129938178:ATAC-STARR-seq lymphoblastoid silent region 15010 [Gene]
  • LOC129938182:ATAC-STARR-seq lymphoblastoid silent region 15011 [Gene]
  • LOC129938184:ATAC-STARR-seq lymphoblastoid silent region 15012 [Gene]
  • LOC129938188:ATAC-STARR-seq lymphoblastoid silent region 15013 [Gene]
  • LOC129938189:ATAC-STARR-seq lymphoblastoid silent region 15014 [Gene]
  • LOC129938190:ATAC-STARR-seq lymphoblastoid silent region 15015 [Gene]
  • LOC129938193:ATAC-STARR-seq lymphoblastoid silent region 15018 [Gene]
  • LOC129938194:ATAC-STARR-seq lymphoblastoid silent region 15019 [Gene]
  • LOC129938198:ATAC-STARR-seq lymphoblastoid silent region 15021 [Gene]
  • LOC129938199:ATAC-STARR-seq lymphoblastoid silent region 15022 [Gene]
  • LOC129938200:ATAC-STARR-seq lymphoblastoid silent region 15023 [Gene]
  • LOC129938201:ATAC-STARR-seq lymphoblastoid silent region 15024 [Gene]
  • LOC129938210:ATAC-STARR-seq lymphoblastoid silent region 15026 [Gene]
  • LOC129938214:ATAC-STARR-seq lymphoblastoid silent region 15028 [Gene]
  • LOC129938222:ATAC-STARR-seq lymphoblastoid silent region 15030 [Gene]
  • LOC129938234:ATAC-STARR-seq lymphoblastoid silent region 15031 [Gene]
  • LOC129938236:ATAC-STARR-seq lymphoblastoid silent region 15032 [Gene]
  • LOC129938237:ATAC-STARR-seq lymphoblastoid silent region 15035 [Gene]
  • LOC129938240:ATAC-STARR-seq lymphoblastoid silent region 15036 [Gene]
  • LOC129938243:ATAC-STARR-seq lymphoblastoid silent region 15039 [Gene]
  • LOC129938245:ATAC-STARR-seq lymphoblastoid silent region 15040 [Gene]
  • LOC129938246:ATAC-STARR-seq lymphoblastoid silent region 15041 [Gene]
  • LOC129938247:ATAC-STARR-seq lymphoblastoid silent region 15042 [Gene]
  • LOC129938252:ATAC-STARR-seq lymphoblastoid silent region 15043 [Gene]
  • LOC129938253:ATAC-STARR-seq lymphoblastoid silent region 15044 [Gene]
  • LOC129938254:ATAC-STARR-seq lymphoblastoid silent region 15045 [Gene]
  • LOC129938256:ATAC-STARR-seq lymphoblastoid silent region 15047 [Gene]
  • LOC129938258:ATAC-STARR-seq lymphoblastoid silent region 15048 [Gene]
  • LOC129938259:ATAC-STARR-seq lymphoblastoid silent region 15049 [Gene]
  • LOC129938260:ATAC-STARR-seq lymphoblastoid silent region 15050 [Gene]
  • LOC129938261:ATAC-STARR-seq lymphoblastoid silent region 15051 [Gene]
  • LOC129938262:ATAC-STARR-seq lymphoblastoid silent region 15052 [Gene]
  • LOC129938263:ATAC-STARR-seq lymphoblastoid silent region 15053 [Gene]
  • LOC129938265:ATAC-STARR-seq lymphoblastoid silent region 15054 [Gene]
  • LOC129938266:ATAC-STARR-seq lymphoblastoid silent region 15055 [Gene]
  • LOC129938271:ATAC-STARR-seq lymphoblastoid silent region 15056 [Gene]
  • LOC129938277:ATAC-STARR-seq lymphoblastoid silent region 15057 [Gene]
  • LOC129938278:ATAC-STARR-seq lymphoblastoid silent region 15058 [Gene]
  • LOC129938282:ATAC-STARR-seq lymphoblastoid silent region 15059 [Gene]
  • LOC129938284:ATAC-STARR-seq lymphoblastoid silent region 15060 [Gene]
  • LOC129938286:ATAC-STARR-seq lymphoblastoid silent region 15063 [Gene]
  • LOC129938287:ATAC-STARR-seq lymphoblastoid silent region 15064 [Gene]
  • LOC129938291:ATAC-STARR-seq lymphoblastoid silent region 15065 [Gene]
  • LOC129938293:ATAC-STARR-seq lymphoblastoid silent region 15066 [Gene]
  • LOC129938294:ATAC-STARR-seq lymphoblastoid silent region 15067 [Gene]
  • LOC129938296:ATAC-STARR-seq lymphoblastoid silent region 15069 [Gene]
  • LOC129938297:ATAC-STARR-seq lymphoblastoid silent region 15070 [Gene]
  • LOC129938303:ATAC-STARR-seq lymphoblastoid silent region 15072 [Gene]
  • LOC129938304:ATAC-STARR-seq lymphoblastoid silent region 15073 [Gene]
  • LOC129938306:ATAC-STARR-seq lymphoblastoid silent region 15080 [Gene]
  • LOC129938307:ATAC-STARR-seq lymphoblastoid silent region 15081 [Gene]
  • LOC129938308:ATAC-STARR-seq lymphoblastoid silent region 15082 [Gene]
  • LOC129938310:ATAC-STARR-seq lymphoblastoid silent region 15083 [Gene]
  • LOC129938311:ATAC-STARR-seq lymphoblastoid silent region 15084 [Gene]
  • LOC129938312:ATAC-STARR-seq lymphoblastoid silent region 15086 [Gene]
  • LOC129938313:ATAC-STARR-seq lymphoblastoid silent region 15087 [Gene]
  • LOC129938316:ATAC-STARR-seq lymphoblastoid silent region 15088 [Gene]
  • LOC129938317:ATAC-STARR-seq lymphoblastoid silent region 15089 [Gene]
  • LOC129938321:ATAC-STARR-seq lymphoblastoid silent region 15091 [Gene]
  • LOC129938322:ATAC-STARR-seq lymphoblastoid silent region 15092 [Gene]
  • LOC129938328:ATAC-STARR-seq lymphoblastoid silent region 15094 [Gene]
  • LOC129938330:ATAC-STARR-seq lymphoblastoid silent region 15095 [Gene]
  • ATP13A3-DT:ATP13A3 divergent transcript [Gene - HGNC]
  • ATP13A4-AS1:ATP13A4 antisense RNA 1 [Gene - HGNC]
  • ATP13A5-AS1:ATP13A5 antisense RNA 1 [Gene - HGNC]
  • ATP13A3:ATPase 13A3 [Gene - OMIM - HGNC]
  • ATP13A4:ATPase 13A4 [Gene - OMIM - HGNC]
  • ATP13A5:ATPase 13A5 [Gene - OMIM - HGNC]
  • ACAP2:ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 [Gene - OMIM - HGNC]
  • BCL6:BCL6 transcription repressor [Gene - OMIM - HGNC]
  • LOC123464476:BRD4-independent group 4 enhancer GRCh37_chr3:186270000-186271199 [Gene]
  • LOC126806897:BRD4-independent group 4 enhancer GRCh37_chr3:186386725-186387924 [Gene]
  • LOC126806899:BRD4-independent group 4 enhancer GRCh37_chr3:188618060-188619259 [Gene]
  • LOC126806900:BRD4-independent group 4 enhancer GRCh37_chr3:188845804-188847003 [Gene]
  • LOC126806907:BRD4-independent group 4 enhancer GRCh37_chr3:189949260-189950459 [Gene]
  • LOC126806912:BRD4-independent group 4 enhancer GRCh37_chr3:192508213-192509412 [Gene]
  • LOC126806913:BRD4-independent group 4 enhancer GRCh37_chr3:193364377-193365576 [Gene]
  • LOC126806915:BRD4-independent group 4 enhancer GRCh37_chr3:193853895-193855094 [Gene]
  • LOC121048734:BRD4-independent group 4 enhancer GRCh37_chr3:194292893-194294092 [Gene]
  • LOC126806921:BRD4-independent group 4 enhancer GRCh37_chr3:194309417-194310616 [Gene]
  • LOC126806923:BRD4-independent group 4 enhancer GRCh37_chr3:194503362-194504561 [Gene]
  • LOC126806924:BRD4-independent group 4 enhancer GRCh37_chr3:194560957-194562156 [Gene]
  • LOC126806925:BRD4-independent group 4 enhancer GRCh37_chr3:194789061-194790260 [Gene]
  • LOC126806927:BRD4-independent group 4 enhancer GRCh37_chr3:194823367-194824566 [Gene]
  • LOC126806929:BRD4-independent group 4 enhancer GRCh37_chr3:195190192-195191391 [Gene]
  • LOC126806930:BRD4-independent group 4 enhancer GRCh37_chr3:195505212-195506411 [Gene]
  • LOC126806932:BRD4-independent group 4 enhancer GRCh37_chr3:195973646-195974845 [Gene]
  • LOC112935924:BRD4-independent group 4 enhancer GRCh37_chr3:196064783-196065982 [Gene]
  • LOC126806934:BRD4-independent group 4 enhancer GRCh37_chr3:196293567-196294766 [Gene]
  • LOC121048736:BRD4-independent group 4 enhancer GRCh37_chr3:196758105-196759304 [Gene]
  • LOC126806935:BRD4-independent group 4 enhancer GRCh37_chr3:197136564-197137763 [Gene]
  • LOC126806936:BRD4-independent group 4 enhancer GRCh37_chr3:197205169-197206368 [Gene]
  • LOC126806938:BRD4-independent group 4 enhancer GRCh37_chr3:197639502-197640701 [Gene]
  • LOC126806898:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:187882030-187883229 [Gene]
  • LOC126806901:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:188849592-188850791 [Gene]
  • LOC126806903:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:188956266-188957465 [Gene]
  • LOC126806911:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:192233174-192234373 [Gene]
  • LOC126806914:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:193600622-193601821 [Gene]
  • LOC126806918:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194167532-194168731 [Gene]
  • LOC126806919:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194170227-194171426 [Gene]
  • LOC126806920:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194218672-194219871 [Gene]
  • LOC126806926:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:194815702-194816901 [Gene]
  • LOC115995536:CRISPRi-validated cis-regulatory element chr3.5443 [Gene]
  • LOC115995537:CRISPRi-validated cis-regulatory element chr3.5812 [Gene]
  • LOC115995538:CRISPRi-validated cis-regulatory element chr3.5817 [Gene]
  • DLG1-AS1:DLG1 antisense RNA 1 [Gene - HGNC]
  • LOC111162621:DeltaNp63 promoter of tumor protein p63 [Gene]
  • DNAJB11:DnaJ heat shock protein family (Hsp40) member B11 [Gene - OMIM - HGNC]
  • ETV5:ETS variant transcription factor 5 [Gene - OMIM - HGNC]
  • ETV5-AS1:ETV5 antisense RNA 1 [Gene - HGNC]
  • FBXO45:F-box protein 45 [Gene - OMIM - HGNC]
  • FGF12-AS1:FGF12 antisense RNA 1 [Gene - HGNC]
  • FGF12-AS2:FGF12 antisense RNA 2 [Gene - HGNC]
  • FGF12-AS3:FGF12 antisense RNA 3 [Gene - HGNC]
  • LOC123464504:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:197216831-197217376 and GRCh37_chr3:197217377-197217922 [Gene]
  • HRG-AS1:HRG and FETUB antisense RNA 1 [Gene - HGNC]
  • IGF2BP2-AS1:IGF2BP2 antisense RNA 1 [Gene - HGNC]
  • IQCG:IQ motif containing G [Gene - OMIM - HGNC]
  • LPP:LIM domain containing preferred translocation partner in lipoma [Gene - OMIM - HGNC]
  • LMLN-AS1:LMLN antisense RNA 1 [Gene - HGNC]
  • LPP-AS1:LPP antisense RNA 1 [Gene - HGNC]
  • LPP-AS2:LPP antisense RNA 2 [Gene - HGNC]
  • MASP1:MBL associated serine protease 1 [Gene - OMIM - HGNC]
  • LOC108281160:MED14-independent group 3 enhancer GRCh37_chr3:187003628-187004827 [Gene]
  • LOC126806902:MED14-independent group 3 enhancer GRCh37_chr3:188884267-188885466 [Gene]
  • LOC126806904:MED14-independent group 3 enhancer GRCh37_chr3:189041855-189043054 [Gene]
  • LOC126806909:MED14-independent group 3 enhancer GRCh37_chr3:190875631-190876830 [Gene]
  • LOC126806916:MED14-independent group 3 enhancer GRCh37_chr3:193994438-193995637 [Gene]
  • LOC126806933:MED14-independent group 3 enhancer GRCh37_chr3:196289997-196291196 [Gene]
  • LOC126806937:MED14-independent group 3 enhancer GRCh37_chr3:197581553-197582752 [Gene]
  • MELTF-AS1:MELTF antisense RNA 1 [Gene - HGNC]
  • MIR570HG:MIR570 host gene [Gene - HGNC]
  • LOC129389189:MPRA-validated peak4974 silencer [Gene]
  • LOC129389190:MPRA-validated peak4976 silencer [Gene]
  • LOC129389191:MPRA-validated peak4979 silencer [Gene]
  • LOC129389192:MPRA-validated peak4980 silencer [Gene]
  • LOC129389193:MPRA-validated peak4981 silencer [Gene]
  • LOC129389194:MPRA-validated peak4984 silencer [Gene]
  • LOC129389195:MPRA-validated peak4987 silencer [Gene]
  • LOC129389196:MPRA-validated peak4992 silencer [Gene]
  • LOC129389197:MPRA-validated peak4993 silencer [Gene]
  • LOC129389198:MPRA-validated peak4995 silencer [Gene]
  • LOC129389199:MPRA-validated peak4996 silencer [Gene]
  • LOC129389200:MPRA-validated peak4998 silencer [Gene]
  • LOC129389201:MPRA-validated peak4999 silencer [Gene]
  • MB21D2:Mab-21 domain containing 2 [Gene - HGNC]
  • NCBP2AS2:NCBP2 antisense 2 (head to head) [Gene - HGNC]
  • NCBP2-AS1:NCBP2 antisense RNA 1 [Gene - HGNC]
  • LOC107133517:NUP98-IQCG recombination region [Gene]
  • LOC132088906:Neanderthal introgressed variant-containing enhancer experimental_66920 [Gene]
  • LOC132088907:Neanderthal introgressed variant-containing enhancer experimental_67093 [Gene]
  • LOC132090702:Neanderthal introgressed variant-containing enhancer experimental_67118 [Gene]
  • LOC132088908:Neanderthal introgressed variant-containing enhancer experimental_67229 [Gene]
  • LOC132088909:Neanderthal introgressed variant-containing enhancer experimental_67240 [Gene]
  • LOC132088910:Neanderthal introgressed variant-containing enhancer experimental_67247 [Gene]
  • LOC132088911:Neanderthal introgressed variant-containing enhancer experimental_67266 [Gene]
  • LOC132088912:Neanderthal introgressed variant-containing enhancer experimental_67312 [Gene]
  • LOC132088913:Neanderthal introgressed variant-containing enhancer experimental_67329 [Gene]
  • LOC132088914:Neanderthal introgressed variant-containing enhancer experimental_67460 [Gene]
  • LOC132088915:Neanderthal introgressed variant-containing enhancer experimental_67503 [Gene]
  • LOC132088916:Neanderthal introgressed variant-containing enhancer experimental_67527 [Gene]
  • LOC132090703:Neanderthal introgressed variant-containing enhancer experimental_67528 [Gene]
  • LOC132088917:Neanderthal introgressed variant-containing enhancer experimental_67532 [Gene]
  • LOC132205956:Neanderthal introgressed variant-containing enhancers experimental_67540 and experimental_67545 [Gene]
  • LOC132205957:Neanderthal introgressed variant-containing enhancers experimental_67549, experimental_67550 and experimental_67551 [Gene]
  • LOC111828515:OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:197268447-197269042 [Gene]
  • OPA1-AS1:OPA1 antisense RNA 1 [Gene - HGNC]
  • OPA1:OPA1 mitochondrial dynamin like GTPase [Gene - OMIM - HGNC]
  • OSTN-AS1:OSTN antisense RNA 1 [Gene - HGNC]
  • LOC126806896:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:185406257-185407456 [Gene]
  • LOC126806905:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:189652551-189653750 [Gene]
  • LOC126806906:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:189655039-189656238 [Gene]
  • LOC126806908:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:190283646-190284845 [Gene]
  • LOC126806910:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:191680691-191681890 [Gene]
  • LOC126806917:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194039992-194041191 [Gene]
  • LOC126806922:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194395226-194396425 [Gene]
  • LOC126806928:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:194904967-194906166 [Gene]
  • LOC126806931:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:195547535-195548734 [Gene]
  • LOC121725167:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:197121050-197122249 [Gene]
  • P3H2-AS1:P3H2 antisense RNA 1 [Gene - HGNC]
  • PYDC2-AS1:PYDC2 antisense RNA 1 [Gene - HGNC]
  • ST6GAL1:ST6 beta-galactoside alpha-2,6-sialyltransferase 1 [Gene - OMIM - HGNC]
  • LOC111242783:ST6GAL1 promoter P1 [Gene]
  • LOC111242785:ST6GAL1 promoter P2 [Gene]
  • SENP2:SUMO specific peptidase 2 [Gene - OMIM - HGNC]
  • SENP5:SUMO specific peptidase 5 [Gene - OMIM - HGNC]
  • LOC123464484:Sharpr-MPRA regulatory region 10063 [Gene]
  • LOC123464494:Sharpr-MPRA regulatory region 1010 [Gene]
  • LOC121048730:Sharpr-MPRA regulatory region 10187 [Gene]
  • LOC112935922:Sharpr-MPRA regulatory region 10974 [Gene]
  • LOC123464481:Sharpr-MPRA regulatory region 11355 [Gene]
  • LOC123464501:Sharpr-MPRA regulatory region 11589 [Gene]
  • LOC123464477:Sharpr-MPRA regulatory region 11729 [Gene]
  • LOC123464503:Sharpr-MPRA regulatory region 1192 [Gene]
  • LOC121048732:Sharpr-MPRA regulatory region 12272 [Gene]
  • LOC123464506:Sharpr-MPRA regulatory region 12303 [Gene]
  • LOC121048728:Sharpr-MPRA regulatory region 13089 [Gene]
  • LOC123464496:Sharpr-MPRA regulatory region 14086 [Gene]
  • LOC123464480:Sharpr-MPRA regulatory region 14211 [Gene]
  • LOC112935919:Sharpr-MPRA regulatory region 14389 [Gene]
  • LOC123464493:Sharpr-MPRA regulatory region 14852 [Gene]
  • LOC123464486:Sharpr-MPRA regulatory region 15127 [Gene]
  • LOC123464479:Sharpr-MPRA regulatory region 1686 [Gene]
  • LOC114004377:Sharpr-MPRA regulatory region 196 [Gene]
  • LOC123464502:Sharpr-MPRA regulatory region 2091 [Gene]
  • LOC112935923:Sharpr-MPRA regulatory region 2136 [Gene]
  • LOC121048727:Sharpr-MPRA regulatory region 2251 [Gene]
  • LOC121048731:Sharpr-MPRA regulatory region 2488 [Gene]
  • LOC112935917:Sharpr-MPRA regulatory region 2895 [Gene]
  • LOC123464491:Sharpr-MPRA regulatory region 3366 [Gene]
  • LOC123464485:Sharpr-MPRA regulatory region 3521 [Gene]
  • LOC123464500:Sharpr-MPRA regulatory region 363 [Gene]
  • LOC123464499:Sharpr-MPRA regulatory region 4041 [Gene]
  • LOC123464478:Sharpr-MPRA regulatory region 4195 [Gene]
  • LOC123464497:Sharpr-MPRA regulatory region 430 [Gene]
  • LOC112935920:Sharpr-MPRA regulatory region 4772 [Gene]
  • LOC123464490:Sharpr-MPRA regulatory region 5455 [Gene]
  • LOC123464474:Sharpr-MPRA regulatory region 5696 [Gene]
  • LOC123464505:Sharpr-MPRA regulatory region 5776 [Gene]
  • LOC121048729:Sharpr-MPRA regulatory region 6282 [Gene]
  • LOC123464495:Sharpr-MPRA regulatory region 6289 [Gene]
  • LOC121048726:Sharpr-MPRA regulatory region 6530 [Gene]
  • LOC123464487:Sharpr-MPRA regulatory region 6572 [Gene]
  • LOC112935926:Sharpr-MPRA regulatory region 6653 [Gene]
  • LOC112935921:Sharpr-MPRA regulatory region 6697 [Gene]
  • LOC123464492:Sharpr-MPRA regulatory region 6900 [Gene]
  • LOC123464498:Sharpr-MPRA regulatory region 7098 [Gene]
  • LOC123464483:Sharpr-MPRA regulatory region 7173 [Gene]
  • LOC123464489:Sharpr-MPRA regulatory region 7499 [Gene]
  • LOC112935925:Sharpr-MPRA regulatory region 8415 [Gene]
  • LOC123464482:Sharpr-MPRA regulatory region 8956 [Gene]
  • LOC112935914:Sharpr-MPRA regulatory region 9080 [Gene]
  • LOC112935918:Sharpr-MPRA regulatory region 910 [Gene]
  • LOC121048735:Sharpr-MPRA regulatory region 9326 [Gene]
  • LOC123464473:Sharpr-MPRA regulatory region 9603 [Gene]
  • LOC123464488:Sharpr-MPRA regulatory region 9727 [Gene]
  • LOC121048733:Sharpr-MPRA regulatory regions 5224 and 9858 [Gene]
  • LOC111162620:TAp63 promoter of tumor protein p63 [Gene]
  • TBCCD1:TBCC domain containing 1 [Gene - OMIM - HGNC]
  • TM4SF19-AS1:TM4SF19 antisense RNA 1 [Gene - HGNC]
  • TM4SF19-DYNLT2B:TM4SF19-DYNLT2B readthrough (NMD candidate) [Gene - HGNC]
  • TMEM44-AS1:TMEM44 antisense RNA 1 [Gene - HGNC]
  • TMEM44-AS2:TMEM44 antisense RNA 2 [Gene - HGNC]
  • TNK2-AS1:TNK2 antisense RNA 1 [Gene - HGNC]
  • TPRG1-AS1:TPRG1 antisense RNA 1 [Gene - HGNC]
  • TPRG1-AS2:TPRG1 antisense RNA 2 [Gene - HGNC]
  • UBXN7:UBX domain protein 7 [Gene - OMIM - HGNC]
  • UBXN7-AS1:UBXN7 antisense RNA 1 [Gene - HGNC]
  • LOC110121069:VISTA enhancer hs1344 [Gene]
  • LOC110121110:VISTA enhancer hs1453 [Gene]
  • LOC110121137:VISTA enhancer hs1543 [Gene]
  • LOC110121144:VISTA enhancer hs1563 [Gene]
  • LOC114827824:VISTA enhancer hs1976 [Gene]
  • WDR53:WD repeat domain 53 [Gene - OMIM - HGNC]
  • XXYLT1-AS1:XXYLT1 antisense RNA 1 [Gene - HGNC]
  • XXYLT1-AS2:XXYLT1 antisense RNA 2 [Gene - HGNC]
  • LOC106660625:adiponectin enhancer region [Gene]
  • ADIPOQ:adiponectin, C1Q and collagen domain containing [Gene - OMIM - HGNC]
  • AHSG:alpha 2-HS glycoprotein [Gene - OMIM - HGNC]
  • APOD:apolipoprotein D [Gene - OMIM - HGNC]
  • CPN2:carboxypeptidase N subunit 2 [Gene - OMIM - HGNC]
  • CEP19:centrosomal protein 19 [Gene - OMIM - HGNC]
  • CLDN16:claudin 16 [Gene - OMIM - HGNC]
  • CLDN1:claudin 1 [Gene - OMIM - HGNC]
  • CCDC50:coiled-coil domain containing 50 [Gene - OMIM - HGNC]
  • CRYGS:crystallin gamma S [Gene - OMIM - HGNC]
  • DGKG:diacylglycerol kinase gamma [Gene - OMIM - HGNC]
  • DLG1:discs large MAGUK scaffold protein 1 [Gene - OMIM - HGNC]
  • DYNLT2B:dynein light chain Tctex-type 2B [Gene - OMIM - HGNC]
  • EIF4A2:eukaryotic translation initiation factor 4A2 [Gene - OMIM - HGNC]
  • FAM43A:family with sequence similarity 43 member A [Gene - HGNC]
  • FETUB:fetuin B [Gene - OMIM - HGNC]
  • FGF12:fibroblast growth factor 12 [Gene - OMIM - HGNC]
  • FYTTD1:forty-two-three domain containing 1 [Gene - OMIM - HGNC]
  • GMNC:geminin coiled-coil domain containing [Gene - OMIM - HGNC]
  • GP5:glycoprotein V platelet [Gene - OMIM - HGNC]
  • LOC100131635:hCG1645011-like [Gene]
  • HES1:hes family bHLH transcription factor 1 [Gene - OMIM - HGNC]
  • HRG:histidine rich glycoprotein [Gene - OMIM - HGNC]
  • IGF2BP2:insulin like growth factor 2 mRNA binding protein 2 [Gene - OMIM - HGNC]
  • IL1RAP:interleukin 1 receptor accessory protein [Gene - OMIM - HGNC]
  • LOC112268458:keratinocyte proline-rich protein [Gene]
  • KNG1:kininogen 1 [Gene - OMIM - HGNC]
  • LSG1:large 60S subunit nuclear export GTPase 1 [Gene - OMIM - HGNC]
  • LMLN:leishmanolysin like peptidase [Gene - OMIM - HGNC]
  • LRRC15:leucine rich repeat containing 15 [Gene - OMIM - HGNC]
  • LRCH3:leucine rich repeats and calponin homology domain containing 3 [Gene - HGNC]
  • LIPH:lipase H [Gene - OMIM - HGNC]
  • LINC01063:long intergenic non-protein coding RNA 1063 [Gene - HGNC]
  • LINC01968:long intergenic non-protein coding RNA 1968 [Gene - HGNC]
  • LINC01972:long intergenic non-protein coding RNA 1972 [Gene - HGNC]
  • LINC01983:long intergenic non-protein coding RNA 1983 [Gene - HGNC]
  • LINC01991:long intergenic non-protein coding RNA 1991 [Gene - HGNC]
  • LINC02012:long intergenic non-protein coding RNA 2012 [Gene - HGNC]
  • LINC02013:long intergenic non-protein coding RNA 2013 [Gene - HGNC]
  • LINC02020:long intergenic non-protein coding RNA 2020 [Gene - HGNC]
  • LINC02026:long intergenic non-protein coding RNA 2026 [Gene - HGNC]
  • LINC02028:long intergenic non-protein coding RNA 2028 [Gene - HGNC]
  • LINC02036:long intergenic non-protein coding RNA 2036 [Gene - HGNC]
  • LINC02037:long intergenic non-protein coding RNA 2037 [Gene - HGNC]
  • LINC02038:long intergenic non-protein coding RNA 2038 [Gene - HGNC]
  • LINC02041:long intergenic non-protein coding RNA 2041 [Gene - HGNC]
  • LINC02043:long intergenic non-protein coding RNA 2043 [Gene - HGNC]
  • LINC02048:long intergenic non-protein coding RNA 2048 [Gene - HGNC]
  • LINC02052:long intergenic non-protein coding RNA 2052 [Gene - HGNC]
  • LINC00885:long intergenic non-protein coding RNA 885 [Gene - HGNC]
  • LINC00887:long intergenic non-protein coding RNA 887 [Gene - HGNC]
  • MELTF:melanotransferrin [Gene - OMIM - HGNC]
  • MIR1248:microRNA 1248 [Gene - HGNC]
  • MIR28:microRNA 28 [Gene - OMIM - HGNC]
  • MIR3137:microRNA 3137 [Gene - HGNC]
  • MIR4797:microRNA 4797 [Gene - HGNC]
  • MIR548AQ:microRNA 548aq [Gene - HGNC]
  • MIR570:microRNA 570 [Gene - OMIM - HGNC]
  • MIR6829:microRNA 6829 [Gene - HGNC]
  • MIR922:microRNA 922 [Gene - HGNC]
  • MIR944:microRNA 944 [Gene - HGNC]
  • MAP3K13:mitogen-activated protein kinase kinase kinase 13 [Gene - OMIM - HGNC]
  • MUC20:mucin 20, cell surface associated [Gene - OMIM - HGNC]
  • MUC4:mucin 4, cell surface associated [Gene - OMIM - HGNC]
  • NRROS:negative regulator of reactive oxygen species [Gene - OMIM - HGNC]
  • NCBP2:nuclear cap binding protein subunit 2 [Gene - OMIM - HGNC]
  • OSTN:osteocrin [Gene - OMIM - HGNC]
  • PAK2:p21 (RAC1) activated kinase 2 [Gene - OMIM - HGNC]
  • PCYT1A:phosphate cytidylyltransferase 1A, choline [Gene - OMIM - HGNC]
  • PIGX:phosphatidylinositol glycan anchor biosynthesis class X [Gene - OMIM - HGNC]
  • PIGZ:phosphatidylinositol glycan anchor biosynthesis class Z [Gene - OMIM - HGNC]
  • PLAAT1:phospholipase A and acyltransferase 1 [Gene - OMIM - HGNC]
  • P3H2:prolyl 3-hydroxylase 2 [Gene - OMIM - HGNC]
  • PPP1R2:protein phosphatase 1 regulatory inhibitor subunit 2 [Gene - OMIM - HGNC]
  • PYDC2:pyrin domain containing 2 [Gene - OMIM - HGNC]
  • RTP1:receptor transporter protein 1 [Gene - OMIM - HGNC]
  • RTP2:receptor transporter protein 2 [Gene - OMIM - HGNC]
  • RTP4:receptor transporter protein 4 [Gene - OMIM - HGNC]
  • RFC4:replication factor C subunit 4 [Gene - OMIM - HGNC]
  • RPL35A:ribosomal protein L35a [Gene - OMIM - HGNC]
  • RPL39L:ribosomal protein L39 like [Gene - OMIM - HGNC]
  • RNF168:ring finger protein 168 [Gene - OMIM - HGNC]
  • RUBCN:rubicon autophagy regulator [Gene - OMIM - HGNC]
  • SMCO1:single-pass membrane protein with coiled-coil domains 1 [Gene - HGNC]
  • SNAR-I:small NF90 (ILF3) associated RNA I [Gene - HGNC]
  • SNORD2:small nucleolar RNA, C/D box 2 [Gene - HGNC]
  • SNORA4:small nucleolar RNA, H/ACA box 4 [Gene - HGNC]
  • SNORA63:small nucleolar RNA, H/ACA box 63 [Gene - OMIM - HGNC]
  • SNORA63B:small nucleolar RNA, H/ACA box 63B [Gene - HGNC]
  • SNORA81:small nucleolar RNA, H/ACA box 81 [Gene - OMIM - HGNC]
  • SLC51A:solute carrier family 51 member A [Gene - OMIM - HGNC]
  • SST:somatostatin [Gene - OMIM - HGNC]
  • TFRC:transferrin receptor [Gene - OMIM - HGNC]
  • TRA2B:transformer 2 beta homolog [Gene - OMIM - HGNC]
  • TM4SF19:transmembrane 4 L six family member 19 [Gene - HGNC]
  • TMEM207:transmembrane protein 207 [Gene - OMIM - HGNC]
  • TMEM41A:transmembrane protein 41A [Gene - HGNC]
  • TMEM44:transmembrane protein 44 [Gene - HGNC]
  • TPRG1:tumor protein p63 regulated 1 [Gene - HGNC]
  • TP63:tumor protein p63 [Gene - OMIM - HGNC]
  • TNK2:tyrosine kinase non receptor 2 [Gene - OMIM - HGNC]
  • LOC101929106:uncharacterized LOC101929106 [Gene]
  • LOC101929130:uncharacterized LOC101929130 [Gene]
  • LOC105374297:uncharacterized LOC105374297 [Gene]
  • LOC105374308:uncharacterized LOC105374308 [Gene]
  • LOC122526776:uncharacterized LOC122526776 [Gene]
  • FLJ42393:uncharacterized LOC401105 [Gene]
  • MGC2889:uncharacterized protein MGC2889 [Gene]
  • UTS2B:urotensin 2B [Gene - OMIM - HGNC]
  • XXYLT1:xyloside xylosyltransferase 1 [Gene - OMIM - HGNC]
  • ZDHHC19:zinc finger DHHC-type palmitoyltransferase 19 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q27.2-29
Genomic location:
Preferred name:
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1
HGVS:
  • NC_000003.12:g.(?_185485849)_(198110178_?)del
  • NC_000003.10:g.(?_186686331)_(199321446_?)del
  • NC_000003.11:g.(?_185203637)_(197837049_?)del
Links:
dbVar: nssv577933; dbVar: nsv530131
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
SCV000078956GeneDx
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 GeneDx, SCV000078956.4

#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 28, 2023