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GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2012
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:
RCV000139021.6

Allele description [Variation Report for GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3]

GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3

Genes:
  • ARGLU1-DT:ARGLU1 divergent transcript [Gene - HGNC]
  • LOC130009978:ATAC-STARR-seq lymphoblastoid active region 7884 [Gene]
  • LOC130009979:ATAC-STARR-seq lymphoblastoid active region 7885 [Gene]
  • LOC130009980:ATAC-STARR-seq lymphoblastoid active region 7886 [Gene]
  • LOC130009982:ATAC-STARR-seq lymphoblastoid active region 7887 [Gene]
  • LOC130009983:ATAC-STARR-seq lymphoblastoid active region 7888 [Gene]
  • LOC130009986:ATAC-STARR-seq lymphoblastoid active region 7892 [Gene]
  • LOC130009987:ATAC-STARR-seq lymphoblastoid active region 7893 [Gene]
  • LOC130009988:ATAC-STARR-seq lymphoblastoid active region 7894 [Gene]
  • LOC130009989:ATAC-STARR-seq lymphoblastoid active region 7895 [Gene]
  • LOC130009990:ATAC-STARR-seq lymphoblastoid active region 7896 [Gene]
  • LOC130009991:ATAC-STARR-seq lymphoblastoid active region 7897 [Gene]
  • LOC130009996:ATAC-STARR-seq lymphoblastoid active region 7898 [Gene]
  • LOC130009997:ATAC-STARR-seq lymphoblastoid active region 7899 [Gene]
  • LOC130009998:ATAC-STARR-seq lymphoblastoid active region 7904 [Gene]
  • LOC130009999:ATAC-STARR-seq lymphoblastoid active region 7905 [Gene]
  • LOC130010000:ATAC-STARR-seq lymphoblastoid active region 7908 [Gene]
  • LOC130010001:ATAC-STARR-seq lymphoblastoid active region 7909 [Gene]
  • LOC130010002:ATAC-STARR-seq lymphoblastoid active region 7910 [Gene]
  • LOC130010003:ATAC-STARR-seq lymphoblastoid active region 7911 [Gene]
  • LOC130010004:ATAC-STARR-seq lymphoblastoid active region 7912 [Gene]
  • LOC130010005:ATAC-STARR-seq lymphoblastoid active region 7913 [Gene]
  • LOC130010006:ATAC-STARR-seq lymphoblastoid active region 7914 [Gene]
  • LOC130010007:ATAC-STARR-seq lymphoblastoid active region 7915 [Gene]
  • LOC130010008:ATAC-STARR-seq lymphoblastoid active region 7916 [Gene]
  • LOC130010009:ATAC-STARR-seq lymphoblastoid active region 7917 [Gene]
  • LOC130010014:ATAC-STARR-seq lymphoblastoid active region 7919 [Gene]
  • LOC130010015:ATAC-STARR-seq lymphoblastoid active region 7920 [Gene]
  • LOC130010016:ATAC-STARR-seq lymphoblastoid active region 7921 [Gene]
  • LOC130010018:ATAC-STARR-seq lymphoblastoid active region 7922 [Gene]
  • LOC130010019:ATAC-STARR-seq lymphoblastoid active region 7923 [Gene]
  • LOC130010020:ATAC-STARR-seq lymphoblastoid active region 7924 [Gene]
  • LOC130010021:ATAC-STARR-seq lymphoblastoid active region 7925 [Gene]
  • LOC130010024:ATAC-STARR-seq lymphoblastoid active region 7926 [Gene]
  • LOC130010025:ATAC-STARR-seq lymphoblastoid active region 7927 [Gene]
  • LOC130010028:ATAC-STARR-seq lymphoblastoid active region 7928 [Gene]
  • LOC130010030:ATAC-STARR-seq lymphoblastoid active region 7931 [Gene]
  • LOC130010031:ATAC-STARR-seq lymphoblastoid active region 7932 [Gene]
  • LOC130010033:ATAC-STARR-seq lymphoblastoid active region 7933 [Gene]
  • LOC130010034:ATAC-STARR-seq lymphoblastoid active region 7934 [Gene]
  • LOC130010035:ATAC-STARR-seq lymphoblastoid active region 7935 [Gene]
  • LOC130010036:ATAC-STARR-seq lymphoblastoid active region 7936 [Gene]
  • LOC130010037:ATAC-STARR-seq lymphoblastoid active region 7937 [Gene]
  • LOC130010038:ATAC-STARR-seq lymphoblastoid active region 7938 [Gene]
  • LOC130010039:ATAC-STARR-seq lymphoblastoid active region 7939 [Gene]
  • LOC130010040:ATAC-STARR-seq lymphoblastoid active region 7940 [Gene]
  • LOC130010041:ATAC-STARR-seq lymphoblastoid active region 7941 [Gene]
  • LOC130010042:ATAC-STARR-seq lymphoblastoid active region 7942 [Gene]
  • LOC130010043:ATAC-STARR-seq lymphoblastoid active region 7943 [Gene]
  • LOC130010044:ATAC-STARR-seq lymphoblastoid active region 7944 [Gene]
  • LOC130010045:ATAC-STARR-seq lymphoblastoid active region 7945 [Gene]
  • LOC130010046:ATAC-STARR-seq lymphoblastoid active region 7947 [Gene]
  • LOC130010047:ATAC-STARR-seq lymphoblastoid active region 7948 [Gene]
  • LOC130010048:ATAC-STARR-seq lymphoblastoid active region 7949 [Gene]
  • LOC130010049:ATAC-STARR-seq lymphoblastoid active region 7950 [Gene]
  • LOC130010052:ATAC-STARR-seq lymphoblastoid active region 7952 [Gene]
  • LOC130010053:ATAC-STARR-seq lymphoblastoid active region 7953 [Gene]
  • LOC130010054:ATAC-STARR-seq lymphoblastoid active region 7954 [Gene]
  • LOC130010055:ATAC-STARR-seq lymphoblastoid active region 7956 [Gene]
  • LOC130010056:ATAC-STARR-seq lymphoblastoid active region 7957 [Gene]
  • LOC130010059:ATAC-STARR-seq lymphoblastoid active region 7958 [Gene]
  • LOC130010060:ATAC-STARR-seq lymphoblastoid active region 7959 [Gene]
  • LOC130010062:ATAC-STARR-seq lymphoblastoid active region 7960 [Gene]
  • LOC130010067:ATAC-STARR-seq lymphoblastoid active region 7961 [Gene]
  • LOC130010068:ATAC-STARR-seq lymphoblastoid active region 7963 [Gene]
  • LOC130010069:ATAC-STARR-seq lymphoblastoid active region 7964 [Gene]
  • LOC130010070:ATAC-STARR-seq lymphoblastoid active region 7965 [Gene]
  • LOC130010071:ATAC-STARR-seq lymphoblastoid active region 7968 [Gene]
  • LOC130010072:ATAC-STARR-seq lymphoblastoid active region 7969 [Gene]
  • LOC130010075:ATAC-STARR-seq lymphoblastoid active region 7970 [Gene]
  • LOC130010080:ATAC-STARR-seq lymphoblastoid active region 7973 [Gene]
  • LOC130010081:ATAC-STARR-seq lymphoblastoid active region 7974 [Gene]
  • LOC130010082:ATAC-STARR-seq lymphoblastoid active region 7975 [Gene]
  • LOC130010083:ATAC-STARR-seq lymphoblastoid active region 7976 [Gene]
  • LOC130010084:ATAC-STARR-seq lymphoblastoid active region 7977 [Gene]
  • LOC130010085:ATAC-STARR-seq lymphoblastoid active region 7978 [Gene]
  • LOC130010087:ATAC-STARR-seq lymphoblastoid active region 7979 [Gene]
  • LOC130010088:ATAC-STARR-seq lymphoblastoid active region 7980 [Gene]
  • LOC130010089:ATAC-STARR-seq lymphoblastoid active region 7981 [Gene]
  • 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]
  • LOC130009981:ATAC-STARR-seq lymphoblastoid silent region 5449 [Gene]
  • LOC130009984:ATAC-STARR-seq lymphoblastoid silent region 5450 [Gene]
  • LOC130009985:ATAC-STARR-seq lymphoblastoid silent region 5452 [Gene]
  • LOC130009992:ATAC-STARR-seq lymphoblastoid silent region 5453 [Gene]
  • LOC130009993:ATAC-STARR-seq lymphoblastoid silent region 5454 [Gene]
  • LOC130009994:ATAC-STARR-seq lymphoblastoid silent region 5455 [Gene]
  • LOC130009995:ATAC-STARR-seq lymphoblastoid silent region 5456 [Gene]
  • LOC130010010:ATAC-STARR-seq lymphoblastoid silent region 5457 [Gene]
  • LOC130010011:ATAC-STARR-seq lymphoblastoid silent region 5458 [Gene]
  • LOC130010012:ATAC-STARR-seq lymphoblastoid silent region 5459 [Gene]
  • LOC130010013:ATAC-STARR-seq lymphoblastoid silent region 5460 [Gene]
  • LOC130010017:ATAC-STARR-seq lymphoblastoid silent region 5461 [Gene]
  • LOC130010022:ATAC-STARR-seq lymphoblastoid silent region 5462 [Gene]
  • LOC130010023:ATAC-STARR-seq lymphoblastoid silent region 5465 [Gene]
  • LOC130010026:ATAC-STARR-seq lymphoblastoid silent region 5466 [Gene]
  • LOC130010027:ATAC-STARR-seq lymphoblastoid silent region 5467 [Gene]
  • LOC130010029:ATAC-STARR-seq lymphoblastoid silent region 5469 [Gene]
  • LOC130010032:ATAC-STARR-seq lymphoblastoid silent region 5470 [Gene]
  • LOC130010050:ATAC-STARR-seq lymphoblastoid silent region 5471 [Gene]
  • LOC130010051:ATAC-STARR-seq lymphoblastoid silent region 5472 [Gene]
  • LOC130010057:ATAC-STARR-seq lymphoblastoid silent region 5474 [Gene]
  • LOC130010058:ATAC-STARR-seq lymphoblastoid silent region 5475 [Gene]
  • LOC130010061:ATAC-STARR-seq lymphoblastoid silent region 5476 [Gene]
  • LOC130010063:ATAC-STARR-seq lymphoblastoid silent region 5477 [Gene]
  • LOC130010064:ATAC-STARR-seq lymphoblastoid silent region 5478 [Gene]
  • LOC130010065:ATAC-STARR-seq lymphoblastoid silent region 5479 [Gene]
  • LOC130010066:ATAC-STARR-seq lymphoblastoid silent region 5480 [Gene]
  • LOC130010073:ATAC-STARR-seq lymphoblastoid silent region 5481 [Gene]
  • LOC130010074:ATAC-STARR-seq lymphoblastoid silent region 5482 [Gene]
  • LOC130010076:ATAC-STARR-seq lymphoblastoid silent region 5484 [Gene]
  • LOC130010077:ATAC-STARR-seq lymphoblastoid silent region 5485 [Gene]
  • LOC130010078:ATAC-STARR-seq lymphoblastoid silent region 5486 [Gene]
  • LOC130010079:ATAC-STARR-seq lymphoblastoid silent region 5487 [Gene]
  • LOC130010086:ATAC-STARR-seq lymphoblastoid silent region 5488 [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]
  • BIVM-ERCC5:BIVM-ERCC5 readthrough [Gene - HGNC]
  • LOC126861828:BRD4-independent group 4 enhancer GRCh37_chr13:100307367-100308566 [Gene]
  • LOC126861829:BRD4-independent group 4 enhancer GRCh37_chr13:100506615-100507814 [Gene]
  • LOC126088081:BRD4-independent group 4 enhancer GRCh37_chr13:101701141-101702340 [Gene]
  • LOC126861834:BRD4-independent group 4 enhancer GRCh37_chr13:103518038-103519237 [Gene]
  • LOC126861835:BRD4-independent group 4 enhancer GRCh37_chr13:104591465-104592664 [Gene]
  • LOC126861838:BRD4-independent group 4 enhancer GRCh37_chr13:106609871-106611070 [Gene]
  • 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]
  • LOC126861820:BRD4-independent group 4 enhancer GRCh37_chr13:99437954-99439153 [Gene]
  • LOC126861822:BRD4-independent group 4 enhancer GRCh37_chr13:99553940-99555139 [Gene]
  • LOC126861836:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:105998132-105999331 [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]
  • LOC126861821:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99459441-99460640 [Gene]
  • LOC126861823:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99644283-99645482 [Gene]
  • LOC126861825:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99811198-99812397 [Gene]
  • CLYBL-AS1:CLYBL antisense RNA 1 [Gene - HGNC]
  • CLYBL-AS2:CLYBL antisense RNA 2 [Gene - HGNC]
  • CLYBL-AS3:CLYBL antisense RNA 3 [Gene - HGNC]
  • COL4A2-AS1:COL4A2 antisense RNA 1 [Gene - HGNC]
  • COL4A2-AS2:COL4A2 antisense RNA 2 [Gene - HGNC]
  • DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
  • DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
  • LIG4:DNA ligase 4 [Gene - OMIM - HGNC]
  • DOCK9-AS1:DOCK9 antisense RNA 1 [Gene - HGNC]
  • DOCK9-DT:DOCK9 divergent transcript [Gene - HGNC]
  • DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
  • ERCC5:ERCC excision repair 5, endonuclease [Gene - OMIM - HGNC]
  • FARP1-AS1:FARP1 antisense RNA 1 [Gene - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • FGF14-AS1:FGF14 antisense RNA 1 [Gene - HGNC]
  • FGF14-AS2:FGF14 antisense RNA 2 [Gene - HGNC]
  • FGF14-IT1:FGF14 intronic transcript 1 [Gene - HGNC]
  • FKSG29:FKSG29 [Gene]
  • LOC111429622:FOXA motif-containing MPRA enhancer 219 [Gene]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • LOC126861833:MED14-independent group 3 enhancer GRCh37_chr13:102844049-102845248 [Gene]
  • LOC126861839:MED14-independent group 3 enhancer GRCh37_chr13:107028450-107029649 [Gene]
  • 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]
  • LOC126861818:MED14-independent group 3 enhancer GRCh37_chr13:98381876-98383075 [Gene]
  • LOC126861819:MED14-independent group 3 enhancer GRCh37_chr13:99222661-99223860 [Gene]
  • LOC129390608:MPRA-validated peak2102 silencer [Gene]
  • LOC129390609:MPRA-validated peak2103 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]
  • NALCN-AS1:NALCN antisense RNA 1 [Gene - 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]
  • LOC132090155:Neanderthal introgressed variant-containing enhancer experimental_31616 [Gene]
  • 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]
  • LOC132090866:Neanderthal introgressed variant-containing enhancer experimental_33558 [Gene]
  • LOC126861827:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:100084644-100085843 [Gene]
  • LOC126861830:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:100635796-100636995 [Gene]
  • LOC112163638:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:101044561-101045760 [Gene]
  • LOC126861831:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:101909917-101911116 [Gene]
  • LOC126861832:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:102102071-102103270 [Gene]
  • LOC126861837:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:106571137-106572336 [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]
  • LOC121838582:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99128412-99129611 [Gene]
  • LOC126861824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99719017-99720216 [Gene]
  • LOC126861826:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99966417-99967616 [Gene]
  • PCCA-AS1:PCCA antisense RNA 1 [Gene - HGNC]
  • PCCA-DT:PCCA divergent transcript [Gene - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • STK24-AS1:STK24 antisense RNA 1 [Gene - HGNC]
  • LOC121468004:Sharpr-MPRA regulatory region 10052 [Gene]
  • LOC121468005:Sharpr-MPRA regulatory region 10114 [Gene]
  • LOC121468003:Sharpr-MPRA regulatory region 10209 [Gene]
  • LOC112163643:Sharpr-MPRA regulatory region 11013 [Gene]
  • LOC124946331:Sharpr-MPRA regulatory region 11112 [Gene]
  • LOC124909515:Sharpr-MPRA regulatory region 11603 [Gene]
  • LOC124909517:Sharpr-MPRA regulatory region 11628 [Gene]
  • LOC121838581:Sharpr-MPRA regulatory region 11714 [Gene]
  • LOC124946339:Sharpr-MPRA regulatory region 13414 [Gene]
  • LOC124946338:Sharpr-MPRA regulatory region 13714 [Gene]
  • LOC112163640:Sharpr-MPRA regulatory region 13792 [Gene]
  • LOC121838583:Sharpr-MPRA regulatory region 14306 [Gene]
  • LOC124946337:Sharpr-MPRA regulatory region 14817 [Gene]
  • LOC121468006:Sharpr-MPRA regulatory region 15039 [Gene]
  • LOC121468007:Sharpr-MPRA regulatory region 15042 [Gene]
  • LOC124946325:Sharpr-MPRA regulatory region 1899 [Gene]
  • LOC124909514:Sharpr-MPRA regulatory region 2492 [Gene]
  • LOC124946328:Sharpr-MPRA regulatory region 256 [Gene]
  • LOC124946330:Sharpr-MPRA regulatory region 3234 [Gene]
  • LOC124909512:Sharpr-MPRA regulatory region 4273 [Gene]
  • LOC124946327:Sharpr-MPRA regulatory region 5830 [Gene]
  • LOC112163637:Sharpr-MPRA regulatory region 5963 [Gene]
  • LOC124946333:Sharpr-MPRA regulatory region 6229 [Gene]
  • LOC124909513:Sharpr-MPRA regulatory region 6469 [Gene]
  • LOC124946329:Sharpr-MPRA regulatory region 7114 [Gene]
  • LOC124946336:Sharpr-MPRA regulatory region 7214 [Gene]
  • LOC124909518:Sharpr-MPRA regulatory region 8410 [Gene]
  • LOC124946326:Sharpr-MPRA regulatory region 8816 [Gene]
  • LOC124909516:Sharpr-MPRA regulatory region 8978 [Gene]
  • LOC124946340:Sharpr-MPRA regulatory region 8993 [Gene]
  • LOC112163639:Sharpr-MPRA regulatory region 9290 [Gene]
  • LOC124909519:Sharpr-MPRA regulatory region 9599 [Gene]
  • TNFSF13B:TNF superfamily member 13b [Gene - OMIM - HGNC]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UBAC2-AS1:UBAC2 antisense RNA 1 [Gene - HGNC]
  • UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
  • LOC110121473:VISTA enhancer hs1991 [Gene]
  • LOC110120930:VISTA enhancer hs759 [Gene]
  • LOC110008580:Zic family member 2 polyalanine repeat instability region [Gene]
  • ZIC2:Zic family member 2 [Gene - OMIM - HGNC]
  • ZIC5:Zic family member 5 [Gene - OMIM - HGNC]
  • ABHD13:abhydrolase domain containing 13 [Gene - HGNC]
  • ARGLU1:arginine and glutamate rich 1 [Gene - OMIM - HGNC]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - OMIM - HGNC]
  • CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • EFNB2:ephrin B2 [Gene - OMIM - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • LOC107992391:heart enhancer 14 [Gene]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • LINC01039:long intergenic non-protein coding RNA 1039 [Gene - HGNC]
  • LINC01232:long intergenic non-protein coding RNA 1232 [Gene - HGNC]
  • LINC01309:long intergenic non-protein coding RNA 1309 [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]
  • LINC00343:long intergenic non-protein coding RNA 343 [Gene - HGNC]
  • LINC00359:long intergenic non-protein coding RNA 359 [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]
  • LINC00411:long intergenic non-protein coding RNA 411 [Gene - HGNC]
  • LINC00443:long intergenic non-protein coding RNA 443 [Gene - HGNC]
  • LINC00449:long intergenic non-protein coding RNA 449 [Gene - HGNC]
  • LINC00456:long intergenic non-protein coding RNA 456 [Gene - HGNC]
  • LINC00460:long intergenic non-protein coding RNA 460 [Gene - HGNC]
  • LINC00554:long intergenic non-protein coding RNA 554 [Gene - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LINC00676:long intergenic non-protein coding RNA 676 [Gene - HGNC]
  • METTL21C:methyltransferase 21C, AARS1 lysine [Gene - OMIM - HGNC]
  • MIR1267:microRNA 1267 [Gene - HGNC]
  • MIR2681:microRNA 2681 [Gene - HGNC]
  • MIR3170:microRNA 3170 [Gene - HGNC]
  • MIR4306:microRNA 4306 [Gene - HGNC]
  • MIR4501:microRNA 4501 [Gene - HGNC]
  • MIR4705:microRNA 4705 [Gene - HGNC]
  • MIR623:microRNA 623 [Gene - HGNC]
  • MIR8073:microRNA 8073 [Gene - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • OXGR1:oxoglutarate receptor 1 [Gene - OMIM - HGNC]
  • PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
  • POGLUT2:protein O-glucosyltransferase 2 [Gene - OMIM - HGNC]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • SNORD31B:small nucleolar RNA, C/D box 31B [Gene - HGNC]
  • NALCN:sodium leak channel, non-selective [Gene - OMIM - HGNC]
  • SLC10A2:solute carrier family 10 member 2 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
  • TEX30:testis expressed 30 [Gene - HGNC]
  • TM9SF2:transmembrane 9 superfamily member 2 [Gene - OMIM - HGNC]
  • TMTC4:transmembrane O-mannosyltransferase targeting cadherins 4 [Gene - OMIM - HGNC]
  • TPP2:tripeptidyl peptidase 2 [Gene - OMIM - HGNC]
  • LOC105370349:uncharacterized LOC105370349 [Gene]
  • LOC105370362:uncharacterized LOC105370362 [Gene]
  • LOC130494219:uncharacterized LOC130494219 [Gene]
Variant type:
copy number gain
Cytogenetic location:
13q32.1-34
Genomic location:
Preferred name:
GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3
HGVS:
  • NC_000013.11:g.(?_95744855)_(110863818_?)dup
  • NC_000013.10:g.(?_96397109)_(111516165_?)dup
  • NC_000013.9:g.(?_95195110)_(110314166_?)dup
Links:
dbVar: nssv1602979; dbVar: nsv916370
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
SCV000179494ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 25, 2012) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000179494.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024