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GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1 AND Chromosome 13q33-q34 deletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
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:
RCV003327641.2

Allele description [Variation Report for GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1]

GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ARGLU1-DT:ARGLU1 divergent transcript [Gene - HGNC]
  • ARHGEF7-AS1:ARHGEF7 antisense RNA 1 [Gene - HGNC]
  • ARHGEF7-AS2:ARHGEF7 antisense RNA 2 [Gene - HGNC]
  • LOC130010093:ATAC-STARR-seq lymphoblastoid active region 7982 [Gene]
  • LOC130010094:ATAC-STARR-seq lymphoblastoid active region 7987 [Gene]
  • LOC130010096:ATAC-STARR-seq lymphoblastoid active region 7988 [Gene]
  • LOC130010097:ATAC-STARR-seq lymphoblastoid active region 7989 [Gene]
  • LOC130010101:ATAC-STARR-seq lymphoblastoid active region 7990 [Gene]
  • LOC130010102:ATAC-STARR-seq lymphoblastoid active region 7991 [Gene]
  • LOC130010105:ATAC-STARR-seq lymphoblastoid active region 7992 [Gene]
  • LOC130010106:ATAC-STARR-seq lymphoblastoid active region 7993 [Gene]
  • LOC130010107:ATAC-STARR-seq lymphoblastoid active region 7994 [Gene]
  • LOC130010108:ATAC-STARR-seq lymphoblastoid active region 7995 [Gene]
  • LOC130010109:ATAC-STARR-seq lymphoblastoid active region 7996 [Gene]
  • LOC130010110:ATAC-STARR-seq lymphoblastoid active region 7997 [Gene]
  • LOC130010111:ATAC-STARR-seq lymphoblastoid active region 7998 [Gene]
  • LOC130010112:ATAC-STARR-seq lymphoblastoid active region 7999 [Gene]
  • LOC130010113:ATAC-STARR-seq lymphoblastoid active region 8000 [Gene]
  • LOC130010114:ATAC-STARR-seq lymphoblastoid active region 8001 [Gene]
  • LOC130010115:ATAC-STARR-seq lymphoblastoid active region 8002 [Gene]
  • LOC130010116:ATAC-STARR-seq lymphoblastoid active region 8003 [Gene]
  • LOC130010120:ATAC-STARR-seq lymphoblastoid active region 8004 [Gene]
  • LOC130010121:ATAC-STARR-seq lymphoblastoid active region 8005 [Gene]
  • LOC130010124:ATAC-STARR-seq lymphoblastoid active region 8006 [Gene]
  • LOC130010125:ATAC-STARR-seq lymphoblastoid active region 8007 [Gene]
  • LOC130010126:ATAC-STARR-seq lymphoblastoid active region 8008 [Gene]
  • LOC130010128:ATAC-STARR-seq lymphoblastoid active region 8009 [Gene]
  • LOC130010129:ATAC-STARR-seq lymphoblastoid active region 8010 [Gene]
  • LOC130010130:ATAC-STARR-seq lymphoblastoid active region 8011 [Gene]
  • LOC130010131:ATAC-STARR-seq lymphoblastoid active region 8012 [Gene]
  • LOC130010137:ATAC-STARR-seq lymphoblastoid active region 8013 [Gene]
  • LOC130010138:ATAC-STARR-seq lymphoblastoid active region 8015 [Gene]
  • LOC130010144:ATAC-STARR-seq lymphoblastoid active region 8017 [Gene]
  • LOC130010145:ATAC-STARR-seq lymphoblastoid active region 8018 [Gene]
  • LOC130010146:ATAC-STARR-seq lymphoblastoid active region 8019 [Gene]
  • LOC130010149:ATAC-STARR-seq lymphoblastoid active region 8020 [Gene]
  • LOC130010150:ATAC-STARR-seq lymphoblastoid active region 8023 [Gene]
  • LOC130010154:ATAC-STARR-seq lymphoblastoid active region 8024 [Gene]
  • LOC130010155:ATAC-STARR-seq lymphoblastoid active region 8025 [Gene]
  • LOC130010156:ATAC-STARR-seq lymphoblastoid active region 8026 [Gene]
  • LOC130010157:ATAC-STARR-seq lymphoblastoid active region 8027 [Gene]
  • LOC130010158:ATAC-STARR-seq lymphoblastoid active region 8028 [Gene]
  • LOC130010159:ATAC-STARR-seq lymphoblastoid active region 8029 [Gene]
  • LOC130010160:ATAC-STARR-seq lymphoblastoid active region 8030 [Gene]
  • LOC130010161:ATAC-STARR-seq lymphoblastoid active region 8031 [Gene]
  • LOC130010169:ATAC-STARR-seq lymphoblastoid active region 8033 [Gene]
  • LOC130010170:ATAC-STARR-seq lymphoblastoid active region 8034 [Gene]
  • LOC130010171:ATAC-STARR-seq lymphoblastoid active region 8035 [Gene]
  • LOC130010179:ATAC-STARR-seq lymphoblastoid active region 8037 [Gene]
  • LOC130010181:ATAC-STARR-seq lymphoblastoid active region 8038 [Gene]
  • LOC130010182:ATAC-STARR-seq lymphoblastoid active region 8039 [Gene]
  • LOC130010186:ATAC-STARR-seq lymphoblastoid active region 8040 [Gene]
  • LOC130010187:ATAC-STARR-seq lymphoblastoid active region 8041 [Gene]
  • LOC130010188:ATAC-STARR-seq lymphoblastoid active region 8042 [Gene]
  • LOC130010189:ATAC-STARR-seq lymphoblastoid active region 8043 [Gene]
  • LOC130010191:ATAC-STARR-seq lymphoblastoid active region 8045 [Gene]
  • LOC130010192:ATAC-STARR-seq lymphoblastoid active region 8046 [Gene]
  • LOC130010193:ATAC-STARR-seq lymphoblastoid active region 8047 [Gene]
  • LOC130010194:ATAC-STARR-seq lymphoblastoid active region 8048 [Gene]
  • LOC130010195:ATAC-STARR-seq lymphoblastoid active region 8049 [Gene]
  • LOC130010197:ATAC-STARR-seq lymphoblastoid active region 8050 [Gene]
  • LOC130010199:ATAC-STARR-seq lymphoblastoid active region 8051 [Gene]
  • LOC130010200:ATAC-STARR-seq lymphoblastoid active region 8052 [Gene]
  • LOC130010201:ATAC-STARR-seq lymphoblastoid active region 8053 [Gene]
  • LOC130010202:ATAC-STARR-seq lymphoblastoid active region 8054 [Gene]
  • LOC130010203:ATAC-STARR-seq lymphoblastoid active region 8055 [Gene]
  • LOC130010204:ATAC-STARR-seq lymphoblastoid active region 8056 [Gene]
  • LOC130010206:ATAC-STARR-seq lymphoblastoid active region 8058 [Gene]
  • LOC130010207:ATAC-STARR-seq lymphoblastoid active region 8059 [Gene]
  • LOC130010208:ATAC-STARR-seq lymphoblastoid active region 8061 [Gene]
  • LOC130010210:ATAC-STARR-seq lymphoblastoid active region 8062 [Gene]
  • LOC130010213:ATAC-STARR-seq lymphoblastoid active region 8063 [Gene]
  • LOC130010214:ATAC-STARR-seq lymphoblastoid active region 8064 [Gene]
  • LOC130010215:ATAC-STARR-seq lymphoblastoid active region 8065 [Gene]
  • LOC130010217:ATAC-STARR-seq lymphoblastoid active region 8066 [Gene]
  • LOC130010090:ATAC-STARR-seq lymphoblastoid silent region 5489 [Gene]
  • LOC130010091:ATAC-STARR-seq lymphoblastoid silent region 5490 [Gene]
  • LOC130010092:ATAC-STARR-seq lymphoblastoid silent region 5491 [Gene]
  • LOC130010095:ATAC-STARR-seq lymphoblastoid silent region 5495 [Gene]
  • LOC130010098:ATAC-STARR-seq lymphoblastoid silent region 5497 [Gene]
  • LOC130010099:ATAC-STARR-seq lymphoblastoid silent region 5498 [Gene]
  • LOC130010100:ATAC-STARR-seq lymphoblastoid silent region 5499 [Gene]
  • LOC130010103:ATAC-STARR-seq lymphoblastoid silent region 5500 [Gene]
  • LOC130010104:ATAC-STARR-seq lymphoblastoid silent region 5501 [Gene]
  • LOC130010117:ATAC-STARR-seq lymphoblastoid silent region 5502 [Gene]
  • LOC130010118:ATAC-STARR-seq lymphoblastoid silent region 5505 [Gene]
  • LOC130010119:ATAC-STARR-seq lymphoblastoid silent region 5506 [Gene]
  • LOC130010122:ATAC-STARR-seq lymphoblastoid silent region 5507 [Gene]
  • LOC130010123:ATAC-STARR-seq lymphoblastoid silent region 5508 [Gene]
  • LOC130010127:ATAC-STARR-seq lymphoblastoid silent region 5509 [Gene]
  • LOC130010132:ATAC-STARR-seq lymphoblastoid silent region 5511 [Gene]
  • LOC130010133:ATAC-STARR-seq lymphoblastoid silent region 5512 [Gene]
  • LOC130010134:ATAC-STARR-seq lymphoblastoid silent region 5513 [Gene]
  • LOC130010135:ATAC-STARR-seq lymphoblastoid silent region 5514 [Gene]
  • LOC130010136:ATAC-STARR-seq lymphoblastoid silent region 5515 [Gene]
  • LOC130010139:ATAC-STARR-seq lymphoblastoid silent region 5518 [Gene]
  • LOC130010140:ATAC-STARR-seq lymphoblastoid silent region 5519 [Gene]
  • LOC130010141:ATAC-STARR-seq lymphoblastoid silent region 5520 [Gene]
  • LOC130010142:ATAC-STARR-seq lymphoblastoid silent region 5521 [Gene]
  • LOC130010143:ATAC-STARR-seq lymphoblastoid silent region 5522 [Gene]
  • LOC130010147:ATAC-STARR-seq lymphoblastoid silent region 5524 [Gene]
  • LOC130010148:ATAC-STARR-seq lymphoblastoid silent region 5525 [Gene]
  • LOC130010151:ATAC-STARR-seq lymphoblastoid silent region 5526 [Gene]
  • LOC130010152:ATAC-STARR-seq lymphoblastoid silent region 5527 [Gene]
  • LOC130010153:ATAC-STARR-seq lymphoblastoid silent region 5528 [Gene]
  • LOC130010162:ATAC-STARR-seq lymphoblastoid silent region 5529 [Gene]
  • LOC130010163:ATAC-STARR-seq lymphoblastoid silent region 5530 [Gene]
  • LOC130010164:ATAC-STARR-seq lymphoblastoid silent region 5531 [Gene]
  • LOC130010165:ATAC-STARR-seq lymphoblastoid silent region 5532 [Gene]
  • LOC130010166:ATAC-STARR-seq lymphoblastoid silent region 5533 [Gene]
  • LOC130010167:ATAC-STARR-seq lymphoblastoid silent region 5534 [Gene]
  • LOC130010168:ATAC-STARR-seq lymphoblastoid silent region 5535 [Gene]
  • LOC130010172:ATAC-STARR-seq lymphoblastoid silent region 5536 [Gene]
  • LOC130010173:ATAC-STARR-seq lymphoblastoid silent region 5537 [Gene]
  • LOC130010174:ATAC-STARR-seq lymphoblastoid silent region 5538 [Gene]
  • LOC130010175:ATAC-STARR-seq lymphoblastoid silent region 5540 [Gene]
  • LOC130010176:ATAC-STARR-seq lymphoblastoid silent region 5541 [Gene]
  • LOC130010177:ATAC-STARR-seq lymphoblastoid silent region 5542 [Gene]
  • LOC130010178:ATAC-STARR-seq lymphoblastoid silent region 5543 [Gene]
  • LOC130010180:ATAC-STARR-seq lymphoblastoid silent region 5546 [Gene]
  • LOC130010183:ATAC-STARR-seq lymphoblastoid silent region 5548 [Gene]
  • LOC130010184:ATAC-STARR-seq lymphoblastoid silent region 5549 [Gene]
  • LOC130010185:ATAC-STARR-seq lymphoblastoid silent region 5550 [Gene]
  • LOC130010190:ATAC-STARR-seq lymphoblastoid silent region 5551 [Gene]
  • LOC130010196:ATAC-STARR-seq lymphoblastoid silent region 5554 [Gene]
  • LOC130010198:ATAC-STARR-seq lymphoblastoid silent region 5555 [Gene]
  • LOC130010205:ATAC-STARR-seq lymphoblastoid silent region 5557 [Gene]
  • LOC130010209:ATAC-STARR-seq lymphoblastoid silent region 5558 [Gene]
  • LOC130010211:ATAC-STARR-seq lymphoblastoid silent region 5559 [Gene]
  • LOC130010212:ATAC-STARR-seq lymphoblastoid silent region 5561 [Gene]
  • LOC130010216:ATAC-STARR-seq lymphoblastoid silent region 5562 [Gene]
  • LOC130010218:ATAC-STARR-seq lymphoblastoid silent region 5563 [Gene]
  • ATP11A-AS1:ATP11A antisense RNA 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • LOC126861843:BRD4-independent group 4 enhancer GRCh37_chr13:109643265-109644464 [Gene]
  • LOC126861847:BRD4-independent group 4 enhancer GRCh37_chr13:110001130-110002329 [Gene]
  • LOC126861849:BRD4-independent group 4 enhancer GRCh37_chr13:110317890-110319089 [Gene]
  • LOC126861850:BRD4-independent group 4 enhancer GRCh37_chr13:110492397-110493596 [Gene]
  • LOC126861851:BRD4-independent group 4 enhancer GRCh37_chr13:110509939-110511138 [Gene]
  • LOC126861852:BRD4-independent group 4 enhancer GRCh37_chr13:110556058-110557257 [Gene]
  • LOC126861856:BRD4-independent group 4 enhancer GRCh37_chr13:110846747-110847946 [Gene]
  • LOC126861857:BRD4-independent group 4 enhancer GRCh37_chr13:110971991-110973190 [Gene]
  • LOC126861858:BRD4-independent group 4 enhancer GRCh37_chr13:111100302-111101501 [Gene]
  • LOC126861859:BRD4-independent group 4 enhancer GRCh37_chr13:111521756-111522955 [Gene]
  • LOC126861861:BRD4-independent group 4 enhancer GRCh37_chr13:111932258-111933457 [Gene]
  • LOC126861862:BRD4-independent group 4 enhancer GRCh37_chr13:112766326-112767525 [Gene]
  • LOC126861863:BRD4-independent group 4 enhancer GRCh37_chr13:112837781-112838980 [Gene]
  • LOC126861866:BRD4-independent group 4 enhancer GRCh37_chr13:113373763-113374962 [Gene]
  • LOC126861867:BRD4-independent group 4 enhancer GRCh37_chr13:113409322-113410521 [Gene]
  • LOC126861872:BRD4-independent group 4 enhancer GRCh37_chr13:114616152-114617351 [Gene]
  • LOC126861873:BRD4-independent group 4 enhancer GRCh37_chr13:114801666-114802865 [Gene]
  • LOC126861874:BRD4-independent group 4 enhancer GRCh37_chr13:114838566-114839765 [Gene]
  • LOC126861877:BRD4-independent group 4 enhancer GRCh37_chr13:114878884-114880083 [Gene]
  • LOC126861841:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:107145476-107146675 [Gene]
  • LOC126861842:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:107911110-107912309 [Gene]
  • LOC126861848:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110165798-110166997 [Gene]
  • LOC126861853:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110664005-110665204 [Gene]
  • LOC126861854:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110669511-110670710 [Gene]
  • LOC116268457:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:111609334-111610533 [Gene]
  • LOC126861865:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113032121-113033320 [Gene]
  • LOC126861868:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113526644-113527843 [Gene]
  • LOC112163646:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:113841395-113842594 [Gene]
  • LOC126861870:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:114195260-114196459 [Gene]
  • CFAP97D2:CFAP97 domain containing 2 [Gene - HGNC]
  • COL4A2-AS1:COL4A2 antisense RNA 1 [Gene - HGNC]
  • COL4A2-AS2:COL4A2 antisense RNA 2 [Gene - HGNC]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • F10-AS1:F10 antisense RNA 1 [Gene - HGNC]
  • GRK1:G protein-coupled receptor kinase 1 [Gene - OMIM - HGNC]
  • GAS6-AS1:GAS6 antisense RNA 1 [Gene - HGNC]
  • GAS6-DT:GAS6 divergent transcript [Gene - HGNC]
  • GRTP1-AS1:GRTP1 antisense RNA 1 [Gene - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • MCF2L-AS1:MCF2L antisense RNA 1 [Gene - HGNC]
  • LOC126861840:MED14-independent group 3 enhancer GRCh37_chr13:107131600-107132799 [Gene]
  • LOC126861844:MED14-independent group 3 enhancer GRCh37_chr13:109752798-109753997 [Gene]
  • LOC126861846:MED14-independent group 3 enhancer GRCh37_chr13:109863465-109864664 [Gene]
  • LOC126861855:MED14-independent group 3 enhancer GRCh37_chr13:110774733-110775932 [Gene]
  • LOC126861864:MED14-independent group 3 enhancer GRCh37_chr13:112843656-112844855 [Gene]
  • LOC129390610:MPRA-validated peak2105 silencer [Gene]
  • MYO16-AS1:MYO16 antisense RNA 1 [Gene - HGNC]
  • MYO16-AS2:MYO16 antisense RNA 2 [Gene - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • NALF1:NALCN channel auxiliary factor 1 [Gene - OMIM - HGNC]
  • NALF1-IT1:NALF1 intronic transcript 1 [Gene - HGNC]
  • NAXD-AS1:NAXD antisense RNA 1 [Gene - HGNC]
  • LOC132090156:Neanderthal introgressed variant-containing enhancer experimental_31732 [Gene]
  • LOC132090157:Neanderthal introgressed variant-containing enhancer experimental_31763 [Gene]
  • LOC132090158:Neanderthal introgressed variant-containing enhancer experimental_31780 [Gene]
  • LOC132090159:Neanderthal introgressed variant-containing enhancer experimental_31790 [Gene]
  • LOC132090160:Neanderthal introgressed variant-containing enhancer experimental_31927 [Gene]
  • LOC132090161:Neanderthal introgressed variant-containing enhancer experimental_31956 [Gene]
  • LOC132090162:Neanderthal introgressed variant-containing enhancer experimental_32038 [Gene]
  • LOC132090163:Neanderthal introgressed variant-containing enhancer experimental_32053 [Gene]
  • LOC132090164:Neanderthal introgressed variant-containing enhancer experimental_32153 [Gene]
  • LOC132090165:Neanderthal introgressed variant-containing enhancer experimental_32158 [Gene]
  • LOC132090166:Neanderthal introgressed variant-containing enhancer experimental_32209 [Gene]
  • LOC132090167:Neanderthal introgressed variant-containing enhancer experimental_32236 [Gene]
  • LOC132090867:Neanderthal introgressed variant-containing enhancer experimental_32244 [Gene]
  • LOC132090168:Neanderthal introgressed variant-containing enhancer experimental_32288 [Gene]
  • LOC132090169:Neanderthal introgressed variant-containing enhancer experimental_32298 [Gene]
  • LOC132090170:Neanderthal introgressed variant-containing enhancer experimental_32357 [Gene]
  • LOC132090171:Neanderthal introgressed variant-containing enhancer experimental_32390 [Gene]
  • LOC132090172:Neanderthal introgressed variant-containing enhancer experimental_32398 [Gene]
  • LOC132090173:Neanderthal introgressed variant-containing enhancer experimental_32415 [Gene]
  • LOC132090174:Neanderthal introgressed variant-containing enhancer experimental_32439 [Gene]
  • LOC124946334:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:107124121-107125320 [Gene]
  • LOC126861845:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:109807999-109809198 [Gene]
  • LOC126861860:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:111617326-111618525 [Gene]
  • LOC126861869:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114064726-114065925 [Gene]
  • LOC126861871:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114279174-114280373 [Gene]
  • LOC126861875:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114848666-114849865 [Gene]
  • LOC126861876:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114852049-114853248 [Gene]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • RASA3-IT1:RASA3 intronic transcript 1 [Gene - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SOX1-OT:SOX1 overlapping transcript [Gene - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
  • LOC124946346:Sharpr-MPRA regulatory region 10007 [Gene]
  • LOC124946344:Sharpr-MPRA regulatory region 10208 [Gene]
  • LOC124946347:Sharpr-MPRA regulatory region 1096 [Gene]
  • LOC112163643:Sharpr-MPRA regulatory region 11013 [Gene]
  • LOC112163644:Sharpr-MPRA regulatory region 12287 [Gene]
  • LOC124946339:Sharpr-MPRA regulatory region 13414 [Gene]
  • LOC124946338:Sharpr-MPRA regulatory region 13714 [Gene]
  • LOC112163640:Sharpr-MPRA regulatory region 13792 [Gene]
  • LOC124946337:Sharpr-MPRA regulatory region 14817 [Gene]
  • LOC124946348:Sharpr-MPRA regulatory region 14980 [Gene]
  • LOC121468007:Sharpr-MPRA regulatory region 15042 [Gene]
  • LOC124946342:Sharpr-MPRA regulatory region 2656 [Gene]
  • LOC121838584:Sharpr-MPRA regulatory region 2925 [Gene]
  • LOC124946345:Sharpr-MPRA regulatory region 43 [Gene]
  • LOC124946343:Sharpr-MPRA regulatory region 5526 [Gene]
  • LOC124946336:Sharpr-MPRA regulatory region 7214 [Gene]
  • LOC112163645:Sharpr-MPRA regulatory region 8271 [Gene]
  • LOC124946340:Sharpr-MPRA regulatory region 8993 [Gene]
  • LOC124946341:Sharpr-MPRA regulatory region 9322 [Gene]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • LOC110121336:VISTA enhancer hs1246 [Gene]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • C13orf46:chromosome 13 open reading frame 46 [Gene - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • LOC107992391:heart enhancer 14 [Gene]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • LINC01043:long intergenic non-protein coding RNA 1043 [Gene - HGNC]
  • LINC01044:long intergenic non-protein coding RNA 1044 [Gene - HGNC]
  • LINC01070:long intergenic non-protein coding RNA 1070 [Gene - HGNC]
  • LINC02337:long intergenic non-protein coding RNA 2337 [Gene - HGNC]
  • LINC03032:long intergenic non-protein coding RNA 3032 [Gene - HGNC]
  • LINC03061:long intergenic non-protein coding RNA 3061 [Gene - HGNC]
  • LINC03082:long intergenic non-protein coding RNA 3082 [Gene - HGNC]
  • LINC00354:long intergenic non-protein coding RNA 354 [Gene - HGNC]
  • LINC00368:long intergenic non-protein coding RNA 368 [Gene - HGNC]
  • LINC00370:long intergenic non-protein coding RNA 370 [Gene - HGNC]
  • LINC00396:long intergenic non-protein coding RNA 396 [Gene - HGNC]
  • LINC00399:long intergenic non-protein coding RNA 399 [Gene - HGNC]
  • LINC00404:long intergenic non-protein coding RNA 404 [Gene - HGNC]
  • LINC00431:long intergenic non-protein coding RNA 431 [Gene - HGNC]
  • LINC00443:long intergenic non-protein coding RNA 443 [Gene - HGNC]
  • LINC00452:long intergenic non-protein coding RNA 452 [Gene - HGNC]
  • LINC00454:long intergenic non-protein coding RNA 454 [Gene - HGNC]
  • LINC00552:long intergenic non-protein coding RNA 552 [Gene - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LINC00676:long intergenic non-protein coding RNA 676 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • LOC128772388:melanoma risk locus-associated MPRA allelic enhancer 13:113533651 [Gene]
  • LOC128772389:melanoma risk locus-associated MPRA allelic enhancer 13:113534907 [Gene]
  • LOC128772390:melanoma risk locus-associated MPRA allelic enhancer 13:113536132 [Gene]
  • LOC128772391:melanoma risk locus-associated MPRA allelic enhancer 13:113537448 [Gene]
  • LOC128772392:melanoma risk locus-associated MPRA allelic enhancer 13:113539894 [Gene]
  • LOC128772393:melanoma risk locus-associated MPRA allelic enhancer 13:113543499 [Gene]
  • MIR1267:microRNA 1267 [Gene - HGNC]
  • MIR4502:microRNA 4502 [Gene - HGNC]
  • MIR548AR:microRNA 548ar [Gene - HGNC]
  • MIR8073:microRNA 8073 [Gene - HGNC]
  • MIR8075:microRNA 8075 [Gene - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • PRECSIT:p53 regulated carcinoma associated Stat3 activating long intergenic non-protein coding transcript [Gene - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • SNORD31B:small nucleolar RNA, C/D box 31B [Gene - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]
  • LOC100506016:uncharacterized LOC100506016 [Gene]
  • LOC101060553:uncharacterized LOC101060553 [Gene]
  • LOC101928730:uncharacterized LOC101928730 [Gene]
  • LOC102725228:uncharacterized LOC102725228 [Gene]
  • LOC105370349:uncharacterized LOC105370349 [Gene]
  • LOC105370362:uncharacterized LOC105370362 [Gene]
  • LOC130494219:uncharacterized LOC130494219 [Gene]
Variant type:
copy number loss
Cytogenetic location:
13q33.3-34
Genomic location:
Chr13: 106425676 - 114326445 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1
HGVS:

    Condition(s)

    Name:
    Chromosome 13q33-q34 deletion syndrome
    Identifiers:
    MONDO: MONDO:0030896; MedGen: C5436890; OMIM: 619148

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034177Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		unknownresearch

    PubMed (3)
    [See all records that cite these PMIDs]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Chromosome deletions in 13q33-34: report of four patients and review of the literature.

    Walczak-Sztulpa J, Wisniewska M, Latos-Bielenska A, Linné M, Kelbova C, Belitz B, Pfeiffer L, Kalscheuer V, Erdogan F, Kuss AW, Ropers HH, Ullmann R, Tzschach A.

    Am J Med Genet A. 2008 Feb 1;146A(3):337-42. doi: 10.1002/ajmg.a.32127. Review.

    PubMed [citation]
    PMID:
    18203171
    See all PubMed Citations (3)

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034177.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (3)

    Description

    A heterozygous deletion of 33 genes (https://genescout.omim.org/) was identified by exome sequencing in one individual with chromosome 13q33-q34 deletion syndrome ([GRCh 38] chr13:106425676_114326445x1). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. Inheritance information is unavailable. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. There is partial overlap with the 5’ end of the CHAMP1 gene including coding sequence, which has emerging evidence for haploinsufficiency, and has been assessed by the ClinGen Dosage Sensitivity Working Group. Two reported probands from the literature (PMID: 18203171, 32616040) have a copy-number loss in 13q33-q34 similar in genomic content to the variant in our study. The variants reported are assumed de novo and the reported phenotype is nonspecific. In summary, this variant meets criteria to be classified as pathogenic for autosomal dominant chromosome 13q33-q34 deletion syndrome. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0.90 points, 3: 0.45 points, 4: 0.2 points, 5: 0.1 points Total: 1.65 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 30, 2024