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GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 29, 2011
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000137725.5

Allele description [Variation Report for GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3]

GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3

Genes:
  • AP1G2-AS1:AP1G2 antisense RNA 1 [Gene - HGNC]
  • LOC130055248:ATAC-STARR-seq lymphoblastoid active region 8073 [Gene]
  • LOC130055249:ATAC-STARR-seq lymphoblastoid active region 8078 [Gene]
  • LOC130055250:ATAC-STARR-seq lymphoblastoid active region 8079 [Gene]
  • LOC130055251:ATAC-STARR-seq lymphoblastoid active region 8080 [Gene]
  • LOC130055254:ATAC-STARR-seq lymphoblastoid active region 8081 [Gene]
  • LOC130055256:ATAC-STARR-seq lymphoblastoid active region 8082 [Gene]
  • LOC130055257:ATAC-STARR-seq lymphoblastoid active region 8083 [Gene]
  • LOC130055258:ATAC-STARR-seq lymphoblastoid active region 8084 [Gene]
  • LOC130055260:ATAC-STARR-seq lymphoblastoid active region 8085 [Gene]
  • LOC130055261:ATAC-STARR-seq lymphoblastoid active region 8086 [Gene]
  • LOC130055262:ATAC-STARR-seq lymphoblastoid active region 8087 [Gene]
  • LOC130055263:ATAC-STARR-seq lymphoblastoid active region 8088 [Gene]
  • LOC130055264:ATAC-STARR-seq lymphoblastoid active region 8089 [Gene]
  • LOC130055265:ATAC-STARR-seq lymphoblastoid active region 8090 [Gene]
  • LOC130055266:ATAC-STARR-seq lymphoblastoid active region 8091 [Gene]
  • LOC130055267:ATAC-STARR-seq lymphoblastoid active region 8092 [Gene]
  • LOC130055270:ATAC-STARR-seq lymphoblastoid active region 8093 [Gene]
  • LOC130055271:ATAC-STARR-seq lymphoblastoid active region 8094 [Gene]
  • LOC130055272:ATAC-STARR-seq lymphoblastoid active region 8095 [Gene]
  • LOC130055273:ATAC-STARR-seq lymphoblastoid active region 8096 [Gene]
  • LOC130055274:ATAC-STARR-seq lymphoblastoid active region 8097 [Gene]
  • LOC130055276:ATAC-STARR-seq lymphoblastoid active region 8098 [Gene]
  • LOC130055282:ATAC-STARR-seq lymphoblastoid active region 8103 [Gene]
  • LOC130055283:ATAC-STARR-seq lymphoblastoid active region 8107 [Gene]
  • LOC130055284:ATAC-STARR-seq lymphoblastoid active region 8108 [Gene]
  • LOC130055285:ATAC-STARR-seq lymphoblastoid active region 8109 [Gene]
  • LOC130055286:ATAC-STARR-seq lymphoblastoid active region 8110 [Gene]
  • LOC130055287:ATAC-STARR-seq lymphoblastoid active region 8111 [Gene]
  • LOC130055288:ATAC-STARR-seq lymphoblastoid active region 8112 [Gene]
  • LOC130055289:ATAC-STARR-seq lymphoblastoid active region 8113 [Gene]
  • LOC130055290:ATAC-STARR-seq lymphoblastoid active region 8114 [Gene]
  • LOC130055291:ATAC-STARR-seq lymphoblastoid active region 8115 [Gene]
  • LOC130055292:ATAC-STARR-seq lymphoblastoid active region 8116 [Gene]
  • LOC130055294:ATAC-STARR-seq lymphoblastoid active region 8117 [Gene]
  • LOC130055295:ATAC-STARR-seq lymphoblastoid active region 8118 [Gene]
  • LOC130055296:ATAC-STARR-seq lymphoblastoid active region 8119 [Gene]
  • LOC130055297:ATAC-STARR-seq lymphoblastoid active region 8120 [Gene]
  • LOC130055298:ATAC-STARR-seq lymphoblastoid active region 8121 [Gene]
  • LOC130055299:ATAC-STARR-seq lymphoblastoid active region 8122 [Gene]
  • LOC130055300:ATAC-STARR-seq lymphoblastoid active region 8123 [Gene]
  • LOC130055301:ATAC-STARR-seq lymphoblastoid active region 8124 [Gene]
  • LOC130055302:ATAC-STARR-seq lymphoblastoid active region 8125 [Gene]
  • LOC130055304:ATAC-STARR-seq lymphoblastoid active region 8126 [Gene]
  • LOC130055305:ATAC-STARR-seq lymphoblastoid active region 8127 [Gene]
  • LOC130055306:ATAC-STARR-seq lymphoblastoid active region 8128 [Gene]
  • LOC130055307:ATAC-STARR-seq lymphoblastoid active region 8129 [Gene]
  • LOC130055308:ATAC-STARR-seq lymphoblastoid active region 8130 [Gene]
  • LOC130055309:ATAC-STARR-seq lymphoblastoid active region 8131 [Gene]
  • LOC130055310:ATAC-STARR-seq lymphoblastoid active region 8132 [Gene]
  • LOC130055311:ATAC-STARR-seq lymphoblastoid active region 8133 [Gene]
  • LOC130055313:ATAC-STARR-seq lymphoblastoid active region 8134 [Gene]
  • LOC130055314:ATAC-STARR-seq lymphoblastoid active region 8135 [Gene]
  • LOC130055316:ATAC-STARR-seq lymphoblastoid active region 8136 [Gene]
  • LOC130055317:ATAC-STARR-seq lymphoblastoid active region 8137 [Gene]
  • LOC130055318:ATAC-STARR-seq lymphoblastoid active region 8138 [Gene]
  • LOC130055319:ATAC-STARR-seq lymphoblastoid active region 8140 [Gene]
  • LOC130055320:ATAC-STARR-seq lymphoblastoid active region 8141 [Gene]
  • LOC130055321:ATAC-STARR-seq lymphoblastoid active region 8142 [Gene]
  • LOC130055325:ATAC-STARR-seq lymphoblastoid active region 8143 [Gene]
  • LOC130055327:ATAC-STARR-seq lymphoblastoid active region 8144 [Gene]
  • LOC130055328:ATAC-STARR-seq lymphoblastoid active region 8145 [Gene]
  • LOC130055329:ATAC-STARR-seq lymphoblastoid active region 8146 [Gene]
  • LOC130055330:ATAC-STARR-seq lymphoblastoid active region 8147 [Gene]
  • LOC130055331:ATAC-STARR-seq lymphoblastoid active region 8148 [Gene]
  • LOC130055335:ATAC-STARR-seq lymphoblastoid active region 8149 [Gene]
  • LOC130055336:ATAC-STARR-seq lymphoblastoid active region 8150 [Gene]
  • LOC130055337:ATAC-STARR-seq lymphoblastoid active region 8151 [Gene]
  • LOC130055338:ATAC-STARR-seq lymphoblastoid active region 8152 [Gene]
  • LOC130055339:ATAC-STARR-seq lymphoblastoid active region 8153 [Gene]
  • LOC130055341:ATAC-STARR-seq lymphoblastoid active region 8154 [Gene]
  • LOC130055343:ATAC-STARR-seq lymphoblastoid active region 8155 [Gene]
  • LOC130055345:ATAC-STARR-seq lymphoblastoid active region 8156 [Gene]
  • LOC130055348:ATAC-STARR-seq lymphoblastoid active region 8157 [Gene]
  • LOC130055351:ATAC-STARR-seq lymphoblastoid active region 8159 [Gene]
  • LOC130055352:ATAC-STARR-seq lymphoblastoid active region 8160 [Gene]
  • LOC130055353:ATAC-STARR-seq lymphoblastoid active region 8161 [Gene]
  • LOC130055354:ATAC-STARR-seq lymphoblastoid active region 8165 [Gene]
  • LOC130055355:ATAC-STARR-seq lymphoblastoid active region 8166 [Gene]
  • LOC130055356:ATAC-STARR-seq lymphoblastoid active region 8167 [Gene]
  • LOC130055358:ATAC-STARR-seq lymphoblastoid active region 8168 [Gene]
  • LOC130055359:ATAC-STARR-seq lymphoblastoid active region 8169 [Gene]
  • LOC130055364:ATAC-STARR-seq lymphoblastoid active region 8171 [Gene]
  • LOC130055367:ATAC-STARR-seq lymphoblastoid active region 8172 [Gene]
  • LOC130055368:ATAC-STARR-seq lymphoblastoid active region 8174 [Gene]
  • LOC130055369:ATAC-STARR-seq lymphoblastoid active region 8175 [Gene]
  • LOC130055370:ATAC-STARR-seq lymphoblastoid active region 8176 [Gene]
  • LOC130055373:ATAC-STARR-seq lymphoblastoid active region 8178 [Gene]
  • LOC130055374:ATAC-STARR-seq lymphoblastoid active region 8179 [Gene]
  • LOC130055375:ATAC-STARR-seq lymphoblastoid active region 8180 [Gene]
  • LOC130055376:ATAC-STARR-seq lymphoblastoid active region 8181 [Gene]
  • LOC130055378:ATAC-STARR-seq lymphoblastoid active region 8182 [Gene]
  • LOC130055381:ATAC-STARR-seq lymphoblastoid active region 8183 [Gene]
  • LOC130055385:ATAC-STARR-seq lymphoblastoid active region 8184 [Gene]
  • LOC130055386:ATAC-STARR-seq lymphoblastoid active region 8185 [Gene]
  • LOC130055389:ATAC-STARR-seq lymphoblastoid active region 8186 [Gene]
  • LOC130055395:ATAC-STARR-seq lymphoblastoid active region 8190 [Gene]
  • LOC130055396:ATAC-STARR-seq lymphoblastoid active region 8191 [Gene]
  • LOC130055397:ATAC-STARR-seq lymphoblastoid active region 8192 [Gene]
  • LOC130055398:ATAC-STARR-seq lymphoblastoid active region 8193 [Gene]
  • LOC130055400:ATAC-STARR-seq lymphoblastoid active region 8194 [Gene]
  • LOC130055401:ATAC-STARR-seq lymphoblastoid active region 8195 [Gene]
  • LOC130055402:ATAC-STARR-seq lymphoblastoid active region 8198 [Gene]
  • LOC130055403:ATAC-STARR-seq lymphoblastoid active region 8199 [Gene]
  • LOC130055404:ATAC-STARR-seq lymphoblastoid active region 8200 [Gene]
  • LOC130055405:ATAC-STARR-seq lymphoblastoid active region 8201 [Gene]
  • LOC130055406:ATAC-STARR-seq lymphoblastoid active region 8202 [Gene]
  • LOC130055407:ATAC-STARR-seq lymphoblastoid active region 8203 [Gene]
  • LOC130055408:ATAC-STARR-seq lymphoblastoid active region 8204 [Gene]
  • LOC130055411:ATAC-STARR-seq lymphoblastoid active region 8205 [Gene]
  • LOC130055412:ATAC-STARR-seq lymphoblastoid active region 8206 [Gene]
  • LOC130055413:ATAC-STARR-seq lymphoblastoid active region 8207 [Gene]
  • LOC130055414:ATAC-STARR-seq lymphoblastoid active region 8208 [Gene]
  • LOC130055415:ATAC-STARR-seq lymphoblastoid active region 8209 [Gene]
  • LOC130055416:ATAC-STARR-seq lymphoblastoid active region 8210 [Gene]
  • LOC130055417:ATAC-STARR-seq lymphoblastoid active region 8211 [Gene]
  • LOC130055418:ATAC-STARR-seq lymphoblastoid active region 8212 [Gene]
  • LOC130055419:ATAC-STARR-seq lymphoblastoid active region 8213 [Gene]
  • LOC130055425:ATAC-STARR-seq lymphoblastoid active region 8214 [Gene]
  • LOC130055426:ATAC-STARR-seq lymphoblastoid active region 8215 [Gene]
  • LOC130055427:ATAC-STARR-seq lymphoblastoid active region 8216 [Gene]
  • LOC130055432:ATAC-STARR-seq lymphoblastoid active region 8217 [Gene]
  • LOC130055433:ATAC-STARR-seq lymphoblastoid active region 8219 [Gene]
  • LOC130055434:ATAC-STARR-seq lymphoblastoid active region 8221 [Gene]
  • LOC130055436:ATAC-STARR-seq lymphoblastoid active region 8222 [Gene]
  • LOC130055437:ATAC-STARR-seq lymphoblastoid active region 8223 [Gene]
  • LOC130055252:ATAC-STARR-seq lymphoblastoid silent region 5567 [Gene]
  • LOC130055253:ATAC-STARR-seq lymphoblastoid silent region 5568 [Gene]
  • LOC130055255:ATAC-STARR-seq lymphoblastoid silent region 5569 [Gene]
  • LOC130055259:ATAC-STARR-seq lymphoblastoid silent region 5572 [Gene]
  • LOC130055268:ATAC-STARR-seq lymphoblastoid silent region 5573 [Gene]
  • LOC130055269:ATAC-STARR-seq lymphoblastoid silent region 5574 [Gene]
  • LOC130055275:ATAC-STARR-seq lymphoblastoid silent region 5575 [Gene]
  • LOC130055277:ATAC-STARR-seq lymphoblastoid silent region 5576 [Gene]
  • LOC130055278:ATAC-STARR-seq lymphoblastoid silent region 5577 [Gene]
  • LOC130055279:ATAC-STARR-seq lymphoblastoid silent region 5578 [Gene]
  • LOC130055280:ATAC-STARR-seq lymphoblastoid silent region 5579 [Gene]
  • LOC130055281:ATAC-STARR-seq lymphoblastoid silent region 5581 [Gene]
  • LOC130055293:ATAC-STARR-seq lymphoblastoid silent region 5584 [Gene]
  • LOC130055303:ATAC-STARR-seq lymphoblastoid silent region 5585 [Gene]
  • LOC130055312:ATAC-STARR-seq lymphoblastoid silent region 5586 [Gene]
  • LOC130055315:ATAC-STARR-seq lymphoblastoid silent region 5587 [Gene]
  • LOC130055322:ATAC-STARR-seq lymphoblastoid silent region 5588 [Gene]
  • LOC130055323:ATAC-STARR-seq lymphoblastoid silent region 5589 [Gene]
  • LOC130055324:ATAC-STARR-seq lymphoblastoid silent region 5590 [Gene]
  • LOC130055326:ATAC-STARR-seq lymphoblastoid silent region 5591 [Gene]
  • LOC130055332:ATAC-STARR-seq lymphoblastoid silent region 5592 [Gene]
  • LOC130055333:ATAC-STARR-seq lymphoblastoid silent region 5593 [Gene]
  • LOC130055334:ATAC-STARR-seq lymphoblastoid silent region 5594 [Gene]
  • LOC130055340:ATAC-STARR-seq lymphoblastoid silent region 5595 [Gene]
  • LOC130055342:ATAC-STARR-seq lymphoblastoid silent region 5596 [Gene]
  • LOC130055344:ATAC-STARR-seq lymphoblastoid silent region 5597 [Gene]
  • LOC130055346:ATAC-STARR-seq lymphoblastoid silent region 5598 [Gene]
  • LOC130055347:ATAC-STARR-seq lymphoblastoid silent region 5599 [Gene]
  • LOC130055349:ATAC-STARR-seq lymphoblastoid silent region 5600 [Gene]
  • LOC130055350:ATAC-STARR-seq lymphoblastoid silent region 5601 [Gene]
  • LOC130055357:ATAC-STARR-seq lymphoblastoid silent region 5602 [Gene]
  • LOC130055360:ATAC-STARR-seq lymphoblastoid silent region 5603 [Gene]
  • LOC130055361:ATAC-STARR-seq lymphoblastoid silent region 5604 [Gene]
  • LOC130055362:ATAC-STARR-seq lymphoblastoid silent region 5605 [Gene]
  • LOC130055363:ATAC-STARR-seq lymphoblastoid silent region 5608 [Gene]
  • LOC130055365:ATAC-STARR-seq lymphoblastoid silent region 5609 [Gene]
  • LOC130055366:ATAC-STARR-seq lymphoblastoid silent region 5610 [Gene]
  • LOC130055371:ATAC-STARR-seq lymphoblastoid silent region 5611 [Gene]
  • LOC130055372:ATAC-STARR-seq lymphoblastoid silent region 5612 [Gene]
  • LOC130055377:ATAC-STARR-seq lymphoblastoid silent region 5614 [Gene]
  • LOC130055379:ATAC-STARR-seq lymphoblastoid silent region 5615 [Gene]
  • LOC130055380:ATAC-STARR-seq lymphoblastoid silent region 5616 [Gene]
  • LOC130055382:ATAC-STARR-seq lymphoblastoid silent region 5617 [Gene]
  • LOC130055383:ATAC-STARR-seq lymphoblastoid silent region 5618 [Gene]
  • LOC130055384:ATAC-STARR-seq lymphoblastoid silent region 5619 [Gene]
  • LOC130055387:ATAC-STARR-seq lymphoblastoid silent region 5620 [Gene]
  • LOC130055388:ATAC-STARR-seq lymphoblastoid silent region 5621 [Gene]
  • LOC130055390:ATAC-STARR-seq lymphoblastoid silent region 5622 [Gene]
  • LOC130055391:ATAC-STARR-seq lymphoblastoid silent region 5623 [Gene]
  • LOC130055392:ATAC-STARR-seq lymphoblastoid silent region 5624 [Gene]
  • LOC130055393:ATAC-STARR-seq lymphoblastoid silent region 5625 [Gene]
  • LOC130055394:ATAC-STARR-seq lymphoblastoid silent region 5626 [Gene]
  • LOC130055399:ATAC-STARR-seq lymphoblastoid silent region 5630 [Gene]
  • LOC130055409:ATAC-STARR-seq lymphoblastoid silent region 5633 [Gene]
  • LOC130055410:ATAC-STARR-seq lymphoblastoid silent region 5634 [Gene]
  • LOC130055420:ATAC-STARR-seq lymphoblastoid silent region 5635 [Gene]
  • LOC130055421:ATAC-STARR-seq lymphoblastoid silent region 5636 [Gene]
  • LOC130055422:ATAC-STARR-seq lymphoblastoid silent region 5637 [Gene]
  • LOC130055423:ATAC-STARR-seq lymphoblastoid silent region 5638 [Gene]
  • LOC130055424:ATAC-STARR-seq lymphoblastoid silent region 5639 [Gene]
  • LOC130055428:ATAC-STARR-seq lymphoblastoid silent region 5640 [Gene]
  • LOC130055429:ATAC-STARR-seq lymphoblastoid silent region 5641 [Gene]
  • LOC130055430:ATAC-STARR-seq lymphoblastoid silent region 5642 [Gene]
  • LOC130055431:ATAC-STARR-seq lymphoblastoid silent region 5643 [Gene]
  • LOC130055435:ATAC-STARR-seq lymphoblastoid silent region 5644 [Gene]
  • BCL2L2:BCL2 like 2 [Gene - OMIM - HGNC]
  • BCL2L2-PABPN1:BCL2L2-PABPN1 readthrough [Gene - HGNC]
  • LOC126861881:BRD4-independent group 4 enhancer GRCh37_chr14:21296219-21297418 [Gene]
  • LOC126861883:BRD4-independent group 4 enhancer GRCh37_chr14:21467511-21468710 [Gene]
  • LOC126861884:BRD4-independent group 4 enhancer GRCh37_chr14:21487674-21488873 [Gene]
  • LOC126861886:BRD4-independent group 4 enhancer GRCh37_chr14:21552808-21554007 [Gene]
  • LOC126861887:BRD4-independent group 4 enhancer GRCh37_chr14:21820143-21821342 [Gene]
  • LOC126861889:BRD4-independent group 4 enhancer GRCh37_chr14:22056937-22058136 [Gene]
  • LOC126861890:BRD4-independent group 4 enhancer GRCh37_chr14:22264004-22265203 [Gene]
  • LOC126861896:BRD4-independent group 4 enhancer GRCh37_chr14:23854904-23856103 [Gene]
  • LOC126861897:BRD4-independent group 4 enhancer GRCh37_chr14:23884455-23885654 [Gene]
  • LOC126861898:BRD4-independent group 4 enhancer GRCh37_chr14:23893609-23894808 [Gene]
  • LOC126861901:BRD4-independent group 4 enhancer GRCh37_chr14:24671230-24672429 [Gene]
  • LOC126861902:BRD4-independent group 4 enhancer GRCh37_chr14:24976080-24977279 [Gene]
  • LOC126861904:BRD4-independent group 4 enhancer GRCh37_chr14:25108089-25109288 [Gene]
  • CEBPE:CCAAT enhancer binding protein epsilon [Gene - OMIM - HGNC]
  • LOC126861885:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21550650-21551849 [Gene]
  • LOC126861888:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:21859227-21860426 [Gene]
  • LOC126861891:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:22931886-22933085 [Gene]
  • LOC126861893:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:23530845-23532044 [Gene]
  • LOC126861900:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:24544925-24546124 [Gene]
  • LOC126861903:CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:25102775-25103974 [Gene]
  • CMTM5:CKLF like MARVEL transmembrane domain containing 5 [Gene - OMIM - HGNC]
  • DCAF11:DDB1 and CUL4 associated factor 11 [Gene - OMIM - HGNC]
  • DHRS4-AS1:DHRS4 antisense RNA 1 [Gene - OMIM - HGNC]
  • EGILA:EGFR interacting lncRNA [Gene - HGNC]
  • EMC9:ER membrane protein complex subunit 9 [Gene - HGNC]
  • HAUS4:HAUS augmin like complex subunit 4 [Gene - OMIM - HGNC]
  • KHNYN:KH and NYN domain containing [Gene - OMIM - HGNC]
  • LRP10:LDL receptor related protein 10 [Gene - OMIM - HGNC]
  • LOC126861880:MED14-independent group 3 enhancer GRCh37_chr14:21219442-21220641 [Gene]
  • LOC126861882:MED14-independent group 3 enhancer GRCh37_chr14:21464288-21465487 [Gene]
  • LOC126861892:MED14-independent group 3 enhancer GRCh37_chr14:23395171-23396370 [Gene]
  • LOC112214176:MED14-independent group 3 enhancer GRCh37_chr14:23503835-23505034 [Gene]
  • LOC126861894:MED14-independent group 3 enhancer GRCh37_chr14:23547601-23548800 [Gene]
  • LOC126861899:MED14-independent group 3 enhancer GRCh37_chr14:24139233-24140432 [Gene]
  • LOC129390614:MPRA-validated peak2113 silencer [Gene]
  • LOC129390615:MPRA-validated peak2117 silencer [Gene]
  • LOC129390616:MPRA-validated peak2123 silencer [Gene]
  • NDRG2:NDRG family member 2 [Gene - OMIM - HGNC]
  • NEDD8:NEDD8 ubiquitin like modifier [Gene - OMIM - HGNC]
  • NEDD8-MDP1:NEDD8-MDP1 readthrough [Gene - HGNC]
  • NOP9:NOP9 nucleolar protein [Gene - OMIM - HGNC]
  • NYNRIN:NYN domain and retroviral integrase containing [Gene - OMIM - HGNC]
  • LOC132090211:Neanderthal introgressed variant-containing enhancer experimental_33791 [Gene]
  • OSGEP:O-sialoglycoprotein endopeptidase [Gene - OMIM - HGNC]
  • LOC107372315:OSGEP/APEX1 bi-directional promoter region [Gene]
  • OXA1L:OXA1L mitochondrial inner membrane protein [Gene - OMIM - HGNC]
  • LOC126861895:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 [Gene]
  • LOC126861905:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:25142536-25143735 [Gene]
  • PRMT5-AS1:PRMT5 antisense RNA 1 [Gene - HGNC]
  • PRMT5-DT:PRMT5 divergent transcript [Gene - HGNC]
  • RAB2B:RAB2B, member RAS oncogene family [Gene - OMIM - HGNC]
  • REC8:REC8 meiotic recombination protein [Gene - OMIM - HGNC]
  • RBM23:RNA binding motif protein 23 [Gene - HGNC]
  • RNASE11-AS1:RNASE11 and RNASE12 antisense RNA 1 [Gene - HGNC]
  • RPGRIP1:RPGR interacting protein 1 [Gene - OMIM - HGNC]
  • REM2:RRAD and GEM like GTPase 2 [Gene - OMIM - HGNC]
  • RABGGTA:Rab geranylgeranyltransferase subunit alpha [Gene - OMIM - HGNC]
  • ARHGEF40:Rho guanine nucleotide exchange factor 40 [Gene - OMIM - HGNC]
  • SUPT16H:SPT16 homolog, facilitates chromatin remodeling subunit [Gene - OMIM - HGNC]
  • LOC121468010:Sharpr-MPRA regulatory region 10023 [Gene]
  • LOC124995349:Sharpr-MPRA regulatory region 10130 [Gene]
  • LOC112267849:Sharpr-MPRA regulatory region 10629 [Gene]
  • LOC124995351:Sharpr-MPRA regulatory region 10677 [Gene]
  • LOC124958013:Sharpr-MPRA regulatory region 11184 [Gene]
  • LOC121468009:Sharpr-MPRA regulatory region 11827 [Gene]
  • LOC124958011:Sharpr-MPRA regulatory region 11977 [Gene]
  • LOC121838586:Sharpr-MPRA regulatory region 12162 [Gene]
  • LOC112214171:Sharpr-MPRA regulatory region 15263 [Gene]
  • LOC124958015:Sharpr-MPRA regulatory region 2117 [Gene]
  • LOC124958014:Sharpr-MPRA regulatory region 2207 [Gene]
  • LOC124995350:Sharpr-MPRA regulatory region 2406 [Gene]
  • LOC121468008:Sharpr-MPRA regulatory region 2696 [Gene]
  • LOC121838587:Sharpr-MPRA regulatory region 3554 [Gene]
  • LOC112267851:Sharpr-MPRA regulatory region 3923 [Gene]
  • LOC121838585:Sharpr-MPRA regulatory region 4676 [Gene]
  • LOC112267850:Sharpr-MPRA regulatory region 5945 [Gene]
  • LOC124958016:Sharpr-MPRA regulatory region 597 [Gene]
  • LOC124995348:Sharpr-MPRA regulatory region 7959 [Gene]
  • LOC112214175:Sharpr-MPRA regulatory region 809 [Gene]
  • LOC124958012:Sharpr-MPRA regulatory region 8150 [Gene]
  • LOC112214170:Sharpr-MPRA regulatory region 8185 [Gene]
  • LOC124958010:Sharpr-MPRA regulatory region 9617 [Gene]
  • LOC112214174:Sharpr-MPRA regulatory region 964 [Gene]
  • TRAC:T cell receptor alpha constant [Gene - OMIM - HGNC]
  • TRAJ1:T cell receptor alpha joining 1 (non-functional) [Gene - HGNC]
  • TRAJ10:T cell receptor alpha joining 10 [Gene - HGNC]
  • TRAJ11:T cell receptor alpha joining 11 [Gene - HGNC]
  • TRAJ12:T cell receptor alpha joining 12 [Gene - HGNC]
  • TRAJ13:T cell receptor alpha joining 13 [Gene - HGNC]
  • TRAJ14:T cell receptor alpha joining 14 [Gene - HGNC]
  • TRAJ15:T cell receptor alpha joining 15 [Gene - HGNC]
  • TRAJ16:T cell receptor alpha joining 16 [Gene - HGNC]
  • TRAJ17:T cell receptor alpha joining 17 [Gene - HGNC]
  • TRAJ18:T cell receptor alpha joining 18 [Gene - HGNC]
  • TRAJ19:T cell receptor alpha joining 19 (non-functional) [Gene - HGNC]
  • TRAJ2:T cell receptor alpha joining 2 (non-functional) [Gene - HGNC]
  • TRAJ20:T cell receptor alpha joining 20 [Gene - HGNC]
  • TRAJ21:T cell receptor alpha joining 21 [Gene - HGNC]
  • TRAJ22:T cell receptor alpha joining 22 [Gene - HGNC]
  • TRAJ23:T cell receptor alpha joining 23 [Gene - HGNC]
  • TRAJ24:T cell receptor alpha joining 24 [Gene - HGNC]
  • TRAJ25:T cell receptor alpha joining 25 (non-functional) [Gene - HGNC]
  • TRAJ26:T cell receptor alpha joining 26 [Gene - HGNC]
  • TRAJ27:T cell receptor alpha joining 27 [Gene - HGNC]
  • TRAJ28:T cell receptor alpha joining 28 [Gene - HGNC]
  • TRAJ29:T cell receptor alpha joining 29 [Gene - HGNC]
  • TRAJ30:T cell receptor alpha joining 30 [Gene - HGNC]
  • TRAJ31:T cell receptor alpha joining 31 [Gene - HGNC]
  • TRAJ32:T cell receptor alpha joining 32 [Gene - HGNC]
  • TRAJ33:T cell receptor alpha joining 33 [Gene - HGNC]
  • TRAJ34:T cell receptor alpha joining 34 [Gene - HGNC]
  • TRAJ35:T cell receptor alpha joining 35 (non-functional) [Gene - HGNC]
  • TRAJ36:T cell receptor alpha joining 36 [Gene - HGNC]
  • TRAJ37:T cell receptor alpha joining 37 [Gene - HGNC]
  • TRAJ38:T cell receptor alpha joining 38 [Gene - HGNC]
  • TRAJ39:T cell receptor alpha joining 39 [Gene - HGNC]
  • TRAJ3:T cell receptor alpha joining 3 [Gene - HGNC]
  • TRAJ40:T cell receptor alpha joining 40 [Gene - HGNC]
  • TRAJ41:T cell receptor alpha joining 41 [Gene - HGNC]
  • TRAJ42:T cell receptor alpha joining 42 [Gene - HGNC]
  • TRAJ43:T cell receptor alpha joining 43 [Gene - HGNC]
  • TRAJ44:T cell receptor alpha joining 44 [Gene - HGNC]
  • TRAJ45:T cell receptor alpha joining 45 [Gene - HGNC]
  • TRAJ46:T cell receptor alpha joining 46 [Gene - HGNC]
  • TRAJ47:T cell receptor alpha joining 47 [Gene - HGNC]
  • TRAJ48:T cell receptor alpha joining 48 [Gene - HGNC]
  • TRAJ49:T cell receptor alpha joining 49 [Gene - HGNC]
  • TRAJ4:T cell receptor alpha joining 4 [Gene - HGNC]
  • TRAJ50:T cell receptor alpha joining 50 [Gene - HGNC]
  • TRAJ52:T cell receptor alpha joining 52 [Gene - HGNC]
  • TRAJ53:T cell receptor alpha joining 53 [Gene - HGNC]
  • TRAJ54:T cell receptor alpha joining 54 [Gene - HGNC]
  • TRAJ56:T cell receptor alpha joining 56 [Gene - HGNC]
  • TRAJ57:T cell receptor alpha joining 57 [Gene - HGNC]
  • TRAJ58:T cell receptor alpha joining 58 (non-functional) [Gene - HGNC]
  • TRAJ59:T cell receptor alpha joining 59 (non-functional) [Gene - HGNC]
  • TRAJ5:T cell receptor alpha joining 5 [Gene - HGNC]
  • TRAJ61:T cell receptor alpha joining 61 (non-functional) [Gene - HGNC]
  • TRAJ6:T cell receptor alpha joining 6 [Gene - HGNC]
  • TRAJ7:T cell receptor alpha joining 7 [Gene - HGNC]
  • TRAJ8:T cell receptor alpha joining 8 [Gene - HGNC]
  • TRAJ9:T cell receptor alpha joining 9 [Gene - HGNC]
  • TRA:T cell receptor alpha locus [Gene - HGNC]
  • TRAV1-1:T cell receptor alpha variable 1-1 [Gene - HGNC]
  • TRAV1-2:T cell receptor alpha variable 1-2 [Gene - HGNC]
  • TRAV10:T cell receptor alpha variable 10 [Gene - HGNC]
  • TRAV12-1:T cell receptor alpha variable 12-1 [Gene - HGNC]
  • TRAV12-2:T cell receptor alpha variable 12-2 [Gene - HGNC]
  • TRAV12-3:T cell receptor alpha variable 12-3 [Gene - HGNC]
  • TRAV13-1:T cell receptor alpha variable 13-1 [Gene - HGNC]
  • TRAV13-2:T cell receptor alpha variable 13-2 [Gene - HGNC]
  • TRAV14DV4:T cell receptor alpha variable 14/delta variable 4 [Gene - HGNC]
  • TRAV16:T cell receptor alpha variable 16 [Gene - HGNC]
  • TRAV17:T cell receptor alpha variable 17 [Gene - HGNC]
  • TRAV18:T cell receptor alpha variable 18 [Gene - HGNC]
  • TRAV19:T cell receptor alpha variable 19 [Gene - HGNC]
  • TRAV20:T cell receptor alpha variable 20 [Gene - HGNC]
  • TRAV21:T cell receptor alpha variable 21 [Gene - HGNC]
  • TRAV22:T cell receptor alpha variable 22 [Gene - HGNC]
  • TRAV23DV6:T cell receptor alpha variable 23/delta variable 6 [Gene - HGNC]
  • TRAV24:T cell receptor alpha variable 24 [Gene - HGNC]
  • TRAV25:T cell receptor alpha variable 25 [Gene - HGNC]
  • TRAV26-1:T cell receptor alpha variable 26-1 [Gene - HGNC]
  • TRAV26-2:T cell receptor alpha variable 26-2 [Gene - HGNC]
  • TRAV27:T cell receptor alpha variable 27 [Gene - HGNC]
  • TRAV29DV5:T cell receptor alpha variable 29/delta variable 5 [Gene - HGNC]
  • TRAV2:T cell receptor alpha variable 2 [Gene - HGNC]
  • TRAV30:T cell receptor alpha variable 30 [Gene - HGNC]
  • TRAV34:T cell receptor alpha variable 34 [Gene - HGNC]
  • TRAV35:T cell receptor alpha variable 35 [Gene - HGNC]
  • TRAV36DV7:T cell receptor alpha variable 36/delta variable 7 [Gene - HGNC]
  • TRAV38-1:T cell receptor alpha variable 38-1 [Gene - HGNC]
  • TRAV38-2DV8:T cell receptor alpha variable 38-2/delta variable 8 [Gene - HGNC]
  • TRAV39:T cell receptor alpha variable 39 [Gene - HGNC]
  • TRAV3:T cell receptor alpha variable 3 [Gene - HGNC]
  • TRAV40:T cell receptor alpha variable 40 [Gene - HGNC]
  • TRAV41:T cell receptor alpha variable 41 [Gene - HGNC]
  • TRAV4:T cell receptor alpha variable 4 [Gene - HGNC]
  • TRAV5:T cell receptor alpha variable 5 [Gene - HGNC]
  • TRAV6:T cell receptor alpha variable 6 [Gene - HGNC]
  • TRAV7:T cell receptor alpha variable 7 [Gene - HGNC]
  • TRAV8-1:T cell receptor alpha variable 8-1 [Gene - HGNC]
  • TRAV8-2:T cell receptor alpha variable 8-2 [Gene - HGNC]
  • TRAV8-3:T cell receptor alpha variable 8-3 [Gene - HGNC]
  • TRAV8-4:T cell receptor alpha variable 8-4 [Gene - HGNC]
  • TRAV8-6:T cell receptor alpha variable 8-6 [Gene - HGNC]
  • TRAV8-7:T cell receptor alpha variable 8-7 (pseudogene) [Gene - HGNC]
  • TRAV9-1:T cell receptor alpha variable 9-1 [Gene - HGNC]
  • TRAV9-2:T cell receptor alpha variable 9-2 [Gene - HGNC]
  • TRDC:T cell receptor delta constant [Gene - OMIM - HGNC]
  • TRDD1:T cell receptor delta diversity 1 [Gene - HGNC]
  • TRDD2:T cell receptor delta diversity 2 [Gene - HGNC]
  • TRDD3:T cell receptor delta diversity 3 [Gene - HGNC]
  • TRDJ1:T cell receptor delta joining 1 [Gene - HGNC]
  • TRDJ2:T cell receptor delta joining 2 [Gene - HGNC]
  • TRDJ3:T cell receptor delta joining 3 [Gene - HGNC]
  • TRDJ4:T cell receptor delta joining 4 [Gene - HGNC]
  • TRD:T cell receptor delta locus [Gene - HGNC]
  • TRDV1:T cell receptor delta variable 1 [Gene - HGNC]
  • TRDV2:T cell receptor delta variable 2 [Gene - HGNC]
  • TRDV3:T cell receptor delta variable 3 [Gene - HGNC]
  • TINF2:TERF1 interacting nuclear factor 2 [Gene - OMIM - HGNC]
  • LOC107882126:TGM1 promoter region [Gene]
  • TOX4:TOX high mobility group box family member 4 [Gene - OMIM - HGNC]
  • TRD-AS1:TRD antisense RNA 1 [Gene - HGNC]
  • LOC110121424:VISTA enhancer hs1670 [Gene]
  • LOC110121433:VISTA enhancer hs1705 [Gene]
  • LOC114827851:VISTA enhancer hs2155 [Gene]
  • LOC110121504:VISTA enhancer hs2330 [Gene]
  • ABHD4:abhydrolase domain containing 4, N-acyl phospholipase B [Gene - OMIM - HGNC]
  • AP1G2:adaptor related protein complex 1 subunit gamma 2 [Gene - OMIM - HGNC]
  • ADCY4:adenylate cyclase 4 [Gene - OMIM - HGNC]
  • AJUBA:ajuba LIM protein [Gene - OMIM - HGNC]
  • ANG:angiogenin [Gene - OMIM - HGNC]
  • ACIN1:apoptotic chromatin condensation inducer 1 [Gene - OMIM - HGNC]
  • APEX1:apurinic/apyrimidinic endodeoxyribonuclease 1 [Gene - OMIM - HGNC]
  • CDH24:cadherin 24 [Gene - OMIM - HGNC]
  • CARMIL3:capping protein regulator and myosin 1 linker 3 [Gene - OMIM - HGNC]
  • CTSG:cathepsin G [Gene - OMIM - HGNC]
  • CIDEB:cell death inducing DFFA like effector b [Gene - OMIM - HGNC]
  • CBLN3:cerebellin 3 precursor [Gene - OMIM - HGNC]
  • CHMP4A:charged multivesicular body protein 4A [Gene - OMIM - HGNC]
  • CHD8:chromodomain helicase DNA binding protein 8 [Gene - OMIM - HGNC]
  • C14orf119:chromosome 14 open reading frame 119 [Gene - HGNC]
  • C14orf93:chromosome 14 open reading frame 93 [Gene - HGNC]
  • CMA1:chymase 1 [Gene - OMIM - HGNC]
  • CIROP:ciliated left-right organizer metallopeptidase [Gene - OMIM - HGNC]
  • LOC105370705:collagen alpha-2(I) chain-like [Gene]
  • CPNE6:copine 6 [Gene - OMIM - HGNC]
  • DAD1:defender against cell death 1 [Gene - OMIM - HGNC]
  • DHRS1:dehydrogenase/reductase 1 [Gene - OMIM - HGNC]
  • DHRS2:dehydrogenase/reductase 2 [Gene - OMIM - HGNC]
  • DHRS4L1:dehydrogenase/reductase 4 like 1 [Gene - OMIM - HGNC]
  • DHRS4L2:dehydrogenase/reductase 4 like 2 [Gene - OMIM - HGNC]
  • DHRS4:dehydrogenase/reductase 4 [Gene - OMIM - HGNC]
  • EFS:embryonal Fyn-associated substrate [Gene - OMIM - HGNC]
  • EDDM3A:epididymal protein 3A [Gene - OMIM - HGNC]
  • EDDM3B:epididymal protein 3B [Gene - OMIM - HGNC]
  • FITM1:fat storage inducing transmembrane protein 1 [Gene - OMIM - HGNC]
  • GZMB:granzyme B [Gene - OMIM - HGNC]
  • GZMH:granzyme H [Gene - OMIM - HGNC]
  • GMPR2:guanosine monophosphate reductase 2 [Gene - OMIM - HGNC]
  • HNRNPC:heterogeneous nuclear ribonucleoprotein C [Gene - OMIM - HGNC]
  • HOMEZ:homeobox and leucine zipper encoding [Gene - OMIM - HGNC]
  • IPO4:importin 4 [Gene - HGNC]
  • IRF9:interferon regulatory factor 9 [Gene - OMIM - HGNC]
  • IL25:interleukin 25 [Gene - OMIM - HGNC]
  • JPH4:junctophilin 4 [Gene - OMIM - HGNC]
  • KLHL33:kelch like family member 33 [Gene - HGNC]
  • LTB4R2:leukotriene B4 receptor 2 [Gene - OMIM - HGNC]
  • LTB4R:leukotriene B4 receptor [Gene - OMIM - HGNC]
  • LINC02332:long intergenic non-protein coding RNA 2332 [Gene - HGNC]
  • LINC00596:long intergenic non-protein coding RNA 596 [Gene - HGNC]
  • LINC00641:long intergenic non-protein coding RNA 641 [Gene - HGNC]
  • MDP1:magnesium dependent phosphatase 1 [Gene - HGNC]
  • MMP14:matrix metallopeptidase 14 [Gene - OMIM - HGNC]
  • METTL3:methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit [Gene - OMIM - HGNC]
  • METTL17:methyltransferase like 17 [Gene - OMIM - HGNC]
  • MIR208A:microRNA 208a [Gene - OMIM - HGNC]
  • MIR208B:microRNA 208b [Gene - OMIM - HGNC]
  • MIR4707:microRNA 4707 [Gene - HGNC]
  • MIR6717:microRNA 6717 [Gene - HGNC]
  • MIR7703:microRNA 7703 [Gene - HGNC]
  • MRPL52:mitochondrial ribosomal protein L52 [Gene - OMIM - HGNC]
  • MYH6:myosin heavy chain 6 [Gene - OMIM - HGNC]
  • MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]
  • MHRT:myosin heavy chain associated RNA transcript [Gene - OMIM - HGNC]
  • NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
  • NGDN:neuroguidin [Gene - OMIM - HGNC]
  • LOC106799836:nonconserved acetylation island sequence 81 enhancer [Gene]
  • NFATC4:nuclear factor of activated T cells 4 [Gene - OMIM - HGNC]
  • OR10G2:olfactory receptor family 10 subfamily G member 2 [Gene - HGNC]
  • OR10G3:olfactory receptor family 10 subfamily G member 3 [Gene - HGNC]
  • OR4E1:olfactory receptor family 4 subfamily E member 1 [Gene - HGNC]
  • OR4E2:olfactory receptor family 4 subfamily E member 2 [Gene - HGNC]
  • OR5AU1:olfactory receptor family 5 subfamily AU member 1 [Gene - HGNC]
  • OR6J1:olfactory receptor family 6 subfamily J member 1 [Gene - HGNC]
  • OR6S1:olfactory receptor family 6 subfamily S member 1 [Gene - HGNC]
  • PIP4P1:phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 [Gene - OMIM - HGNC]
  • PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
  • PABPN1:poly(A) binding protein nuclear 1 [Gene - OMIM - HGNC]
  • PSMB5:proteasome 20S subunit beta 5 [Gene - OMIM - HGNC]
  • PSME1:proteasome activator subunit 1 [Gene - OMIM - HGNC]
  • PSME2:proteasome activator subunit 2 [Gene - OMIM - HGNC]
  • PSMB11:proteasome subunit beta 11 [Gene - OMIM - HGNC]
  • PRMT5:protein arginine methyltransferase 5 [Gene - OMIM - HGNC]
  • PPP1R3E:protein phosphatase 1 regulatory subunit 3E [Gene - OMIM - HGNC]
  • PNP:purine nucleoside phosphorylase [Gene - OMIM - HGNC]
  • RIPK3:receptor interacting serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • RNASE1:ribonuclease A family member 1, pancreatic [Gene - OMIM - HGNC]
  • RNASE10:ribonuclease A family member 10 (inactive) [Gene - HGNC]
  • RNASE11:ribonuclease A family member 11 (inactive) [Gene - HGNC]
  • RNASE12:ribonuclease A family member 12 (inactive) [Gene - HGNC]
  • RNASE13:ribonuclease A family member 13 (inactive) [Gene - HGNC]
  • RNASE2:ribonuclease A family member 2 [Gene - OMIM - HGNC]
  • RNASE3:ribonuclease A family member 3 [Gene - OMIM - HGNC]
  • RNASE4:ribonuclease A family member 4 [Gene - OMIM - HGNC]
  • RNASE7:ribonuclease A family member 7 [Gene - OMIM - HGNC]
  • RNASE8:ribonuclease A family member 8 [Gene - OMIM - HGNC]
  • RNASE9:ribonuclease A family member 9 (inactive) [Gene - OMIM - HGNC]
  • RNASE6:ribonuclease A family member k6 [Gene - OMIM - HGNC]
  • RNF212B:ring finger protein 212B [Gene - HGNC]
  • RNF31:ring finger protein 31 [Gene - OMIM - HGNC]
  • SDR39U1:short chain dehydrogenase/reductase family 39U member 1 [Gene - OMIM - HGNC]
  • SNORD8:small nucleolar RNA, C/D box 8 [Gene - OMIM - HGNC]
  • SNORD9:small nucleolar RNA, C/D box 9 [Gene - HGNC]
  • SLC22A17:solute carrier family 22 member 17 [Gene - OMIM - HGNC]
  • SLC39A2:solute carrier family 39 member 2 [Gene - OMIM - HGNC]
  • SLC7A7:solute carrier family 7 member 7 [Gene - OMIM - HGNC]
  • SLC7A8:solute carrier family 7 member 8 [Gene - OMIM - HGNC]
  • SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]
  • STXBP6:syntaxin binding protein 6 [Gene - OMIM - HGNC]
  • TRR-ACG1-3:tRNA-Arg (anticodon ACG) 1-3 [Gene - HGNC]
  • TRL-AAG2-3:tRNA-Leu (anticodon AAG) 2-3 [Gene - OMIM - HGNC]
  • TRL-TAG2-1:tRNA-Leu (anticodon TAG) 2-1 [Gene - HGNC]
  • TRP-AGG2-5:tRNA-Pro (anticodon AGG) 2-5 [Gene - OMIM - HGNC]
  • TRP-AGG2-6:tRNA-Pro (anticodon AGG) 2-6 [Gene - OMIM - HGNC]
  • TRP-TGG1-1:tRNA-Pro (anticodon TGG) 1-1 [Gene - HGNC]
  • TRP-TGG3-2:tRNA-Pro (anticodon TGG) 3-2 [Gene - HGNC]
  • TRT-TGT3-1:tRNA-Thr (anticodon TGT) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT4-1:tRNA-Thr (anticodon TGT) 4-1 [Gene - HGNC]
  • TRT-TGT5-1:tRNA-Thr (anticodon TGT) 5-1 [Gene - HGNC]
  • TRY-GTA4-1:tRNA-Tyr (anticodon GTA) 4-1 [Gene - HGNC]
  • TRY-GTA5-3:tRNA-Tyr (anticodon GTA) 5-3 [Gene - HGNC]
  • TRY-GTA5-4:tRNA-Tyr (anticodon GTA) 5-4 [Gene - HGNC]
  • TRY-GTA5-5:tRNA-Tyr (anticodon GTA) 5-5 [Gene - HGNC]
  • TRY-GTA7-1:tRNA-Tyr (anticodon GTA) 7-1 [Gene - HGNC]
  • TEP1:telomerase associated protein 1 [Gene - OMIM - HGNC]
  • TSSK4:testis specific serine kinase 4 [Gene - OMIM - HGNC]
  • THTPA:thiamine triphosphatase [Gene - OMIM - HGNC]
  • TGM1:transglutaminase 1 [Gene - OMIM - HGNC]
  • TM9SF1:transmembrane 9 superfamily member 1 [Gene - OMIM - HGNC]
  • TMEM253:transmembrane protein 253 [Gene - HGNC]
  • TPPP2:tubulin polymerization promoting protein family member 2 [Gene - OMIM - HGNC]
  • LOC101927045:uncharacterized LOC101927045 [Gene]
  • LOC101929718:uncharacterized LOC101929718 [Gene]
  • ZFHX2:zinc finger homeobox 2 [Gene - OMIM - HGNC]
  • ZNF219:zinc finger protein 219 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
14q11.2-12
Genomic location:
Preferred name:
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3
HGVS:
  • NC_000014.9:g.(?_20412587)_(25018120_?)dup
  • NC_000014.7:g.(?_19950586)_(24557166_?)dup
  • NC_000014.8:g.(?_20880746)_(25487326_?)dup
Links:
dbVar: nssv1495740; dbVar: nsv868901
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
SCV000177972ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Aug 29, 2011) 		unknownclinical 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

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000177972.4

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

Last Updated: May 7, 2024