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GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000051179.6

Allele description [Variation Report for GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3]

GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3

Genes:
  • LOC130009949:ATAC-STARR-seq lymphoblastoid active region 7862 [Gene]
  • LOC130009951:ATAC-STARR-seq lymphoblastoid active region 7863 [Gene]
  • LOC130009952:ATAC-STARR-seq lymphoblastoid active region 7864 [Gene]
  • LOC130009954:ATAC-STARR-seq lymphoblastoid active region 7866 [Gene]
  • LOC130009955:ATAC-STARR-seq lymphoblastoid active region 7867 [Gene]
  • LOC130009956:ATAC-STARR-seq lymphoblastoid active region 7868 [Gene]
  • LOC130009957:ATAC-STARR-seq lymphoblastoid active region 7869 [Gene]
  • LOC130009958:ATAC-STARR-seq lymphoblastoid active region 7870 [Gene]
  • LOC130009959:ATAC-STARR-seq lymphoblastoid active region 7871 [Gene]
  • LOC130009960:ATAC-STARR-seq lymphoblastoid active region 7872 [Gene]
  • LOC130009962:ATAC-STARR-seq lymphoblastoid active region 7873 [Gene]
  • LOC130009963:ATAC-STARR-seq lymphoblastoid active region 7874 [Gene]
  • LOC130009964:ATAC-STARR-seq lymphoblastoid active region 7875 [Gene]
  • LOC130009966:ATAC-STARR-seq lymphoblastoid active region 7876 [Gene]
  • LOC130009968:ATAC-STARR-seq lymphoblastoid active region 7877 [Gene]
  • LOC130009970:ATAC-STARR-seq lymphoblastoid active region 7878 [Gene]
  • LOC130009971:ATAC-STARR-seq lymphoblastoid active region 7879 [Gene]
  • LOC130009975:ATAC-STARR-seq lymphoblastoid active region 7880 [Gene]
  • LOC130009976:ATAC-STARR-seq lymphoblastoid active region 7883 [Gene]
  • 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]
  • LOC130009950:ATAC-STARR-seq lymphoblastoid silent region 5431 [Gene]
  • LOC130009953:ATAC-STARR-seq lymphoblastoid silent region 5434 [Gene]
  • LOC130009961:ATAC-STARR-seq lymphoblastoid silent region 5436 [Gene]
  • LOC130009965:ATAC-STARR-seq lymphoblastoid silent region 5440 [Gene]
  • LOC130009967:ATAC-STARR-seq lymphoblastoid silent region 5441 [Gene]
  • LOC130009969:ATAC-STARR-seq lymphoblastoid silent region 5442 [Gene]
  • LOC130009972:ATAC-STARR-seq lymphoblastoid silent region 5443 [Gene]
  • LOC130009973:ATAC-STARR-seq lymphoblastoid silent region 5444 [Gene]
  • LOC130009974:ATAC-STARR-seq lymphoblastoid silent region 5445 [Gene]
  • LOC130009977:ATAC-STARR-seq lymphoblastoid silent region 5448 [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]
  • ABCC4:ATP binding cassette subfamily C member 4 (PEL blood group) [Gene - OMIM - HGNC]
  • 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]
  • LOC126861809:BRD4-independent group 4 enhancer GRCh37_chr13:84091305-84092504 [Gene]
  • LOC126861810:BRD4-independent group 4 enhancer GRCh37_chr13:85258624-85259823 [Gene]
  • LOC124909506:BRD4-independent group 4 enhancer GRCh37_chr13:90202962-90204161 [Gene]
  • LOC112163674:BRD4-independent group 4 enhancer GRCh37_chr13:91067454-91068653 [Gene]
  • LOC126861817:BRD4-independent group 4 enhancer GRCh37_chr13:95861642-95862841 [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]
  • LOC126861813:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:88326279-88327478 [Gene]
  • LOC126861816:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:95143673-95144872 [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]
  • CLDN10-AS1:CLDN10 antisense RNA 1 [Gene - HGNC]
  • CLYBL-AS1:CLYBL antisense RNA 1 [Gene - HGNC]
  • CLYBL-AS2:CLYBL antisense RNA 2 [Gene - HGNC]
  • CLYBL-AS3:CLYBL antisense RNA 3 [Gene - HGNC]
  • DAOA:D-amino acid oxidase activator [Gene - OMIM - HGNC]
  • DAOA-AS1:DAOA antisense RNA 1 [Gene - OMIM - HGNC]
  • DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
  • DNAJC3-DT:DNAJC3 divergent transcript [Gene - 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]
  • GPR180:G protein-coupled receptor 180 [Gene - OMIM - HGNC]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • GPC5-AS1:GPC5 antisense RNA 1 [Gene - HGNC]
  • GPC5-AS2:GPC5 antisense RNA 2 [Gene - HGNC]
  • GPC5-IT1:GPC5 intronic transcript 1 [Gene - HGNC]
  • GPC6-AS1:GPC6 antisense RNA 1 [Gene - HGNC]
  • GPC6-AS2:GPC6 antisense RNA 2 [Gene - HGNC]
  • LOC126861833:MED14-independent group 3 enhancer GRCh37_chr13:102844049-102845248 [Gene]
  • LOC126861811:MED14-independent group 3 enhancer GRCh37_chr13:86238925-86240124 [Gene]
  • LOC126861814:MED14-independent group 3 enhancer GRCh37_chr13:90053092-90054291 [Gene]
  • LOC126861815:MED14-independent group 3 enhancer GRCh37_chr13:91097164-91098363 [Gene]
  • LOC126861818:MED14-independent group 3 enhancer GRCh37_chr13:98381876-98383075 [Gene]
  • LOC126861819:MED14-independent group 3 enhancer GRCh37_chr13:99222661-99223860 [Gene]
  • MIR4500HG:MIR4500 host gene [Gene - HGNC]
  • LOC129390605:MPRA-validated peak2090 silencer [Gene]
  • LOC129390606:MPRA-validated peak2091 silencer [Gene]
  • LOC129390607:MPRA-validated peak2098 silencer [Gene]
  • LOC129390608:MPRA-validated peak2102 silencer [Gene]
  • LOC129390609:MPRA-validated peak2103 silencer [Gene]
  • NALCN-AS1:NALCN antisense RNA 1 [Gene - HGNC]
  • LOC132090155:Neanderthal introgressed variant-containing enhancer experimental_31616 [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]
  • LOC126861812:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:87694909-87696108 [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]
  • RAP2A:RAP2A, member of RAS oncogene family [Gene - OMIM - HGNC]
  • SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
  • SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
  • SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
  • SOX21-AS1:SOX21 antisense divergent transcript 1 [Gene - HGNC]
  • SOX21:SRY-box transcription factor 21 [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]
  • 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]
  • LOC121838583:Sharpr-MPRA regulatory region 14306 [Gene]
  • LOC121468006:Sharpr-MPRA regulatory region 15039 [Gene]
  • LOC124909505:Sharpr-MPRA regulatory region 1723 [Gene]
  • LOC124946325:Sharpr-MPRA regulatory region 1899 [Gene]
  • LOC112163676:Sharpr-MPRA regulatory region 2339 [Gene]
  • LOC124909514:Sharpr-MPRA regulatory region 2492 [Gene]
  • LOC124946328:Sharpr-MPRA regulatory region 256 [Gene]
  • LOC112163672:Sharpr-MPRA regulatory region 2923 [Gene]
  • LOC124946330:Sharpr-MPRA regulatory region 3234 [Gene]
  • LOC124909512:Sharpr-MPRA regulatory region 4273 [Gene]
  • LOC121468002:Sharpr-MPRA regulatory region 4462 [Gene]
  • LOC124909511:Sharpr-MPRA regulatory region 4491 [Gene]
  • LOC112163675:Sharpr-MPRA regulatory region 5370 [Gene]
  • LOC124946327:Sharpr-MPRA regulatory region 5830 [Gene]
  • LOC112163637:Sharpr-MPRA regulatory region 5963 [Gene]
  • LOC124909507:Sharpr-MPRA regulatory region 6090 [Gene]
  • LOC124909513:Sharpr-MPRA regulatory region 6469 [Gene]
  • LOC124909504:Sharpr-MPRA regulatory region 7086 [Gene]
  • LOC121468001:Sharpr-MPRA regulatory region 7103 [Gene]
  • LOC124946329:Sharpr-MPRA regulatory region 7114 [Gene]
  • LOC124909518:Sharpr-MPRA regulatory region 8410 [Gene]
  • LOC124946326:Sharpr-MPRA regulatory region 8816 [Gene]
  • LOC124909516:Sharpr-MPRA regulatory region 8978 [Gene]
  • LOC112163639:Sharpr-MPRA regulatory region 9290 [Gene]
  • LOC124909519:Sharpr-MPRA regulatory region 9599 [Gene]
  • LOC124909510:Sharpr-MPRA regulatory region 9781 [Gene]
  • LOC124909509:Sharpr-MPRA regulatory region 9831 [Gene]
  • LOC124909508:Sharpr-MPRA regulatory region 998 [Gene]
  • TGDS:TDP-glucose 4,6-dehydratase [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]
  • LOC110120881:VISTA enhancer hs488 [Gene]
  • LOC110120930:VISTA enhancer hs759 [Gene]
  • LOC110120933:VISTA enhancer hs796 [Gene]
  • LOC110120855:VISTA enhancers hs189 and hs341 [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]
  • BIVM:basic, immunoglobulin-like variable motif containing [Gene - OMIM - HGNC]
  • CLYBL:citramalyl-CoA lyase [Gene - OMIM - HGNC]
  • CLDN10:claudin 10 [Gene - OMIM - HGNC]
  • CCDC168:coiled-coil domain containing 168 [Gene - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
  • FGF14:fibroblast growth factor 14 [Gene - OMIM - HGNC]
  • GGACT:gamma-glutamylamine cyclotransferase [Gene - OMIM - HGNC]
  • GPC5:glypican 5 [Gene - OMIM - HGNC]
  • GPC6:glypican 6 [Gene - OMIM - HGNC]
  • HS6ST3:heparan sulfate 6-O-sulfotransferase 3 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • ITGBL1:integrin subunit beta like 1 [Gene - OMIM - HGNC]
  • LINC01039:long intergenic non-protein coding RNA 1039 [Gene - HGNC]
  • LINC01040:long intergenic non-protein coding RNA 1040 [Gene - HGNC]
  • LINC01047:long intergenic non-protein coding RNA 1047 [Gene - HGNC]
  • LINC01049:long intergenic non-protein coding RNA 1049 [Gene - HGNC]
  • LINC01232:long intergenic non-protein coding RNA 1232 [Gene - HGNC]
  • LINC01309:long intergenic non-protein coding RNA 1309 [Gene - HGNC]
  • LINC02336:long intergenic non-protein coding RNA 2336 [Gene - HGNC]
  • LINC00333:long intergenic non-protein coding RNA 333 [Gene - HGNC]
  • LINC00343:long intergenic non-protein coding RNA 343 [Gene - HGNC]
  • LINC00351:long intergenic non-protein coding RNA 351 [Gene - HGNC]
  • LINC00353:long intergenic non-protein coding RNA 353 [Gene - HGNC]
  • LINC00359:long intergenic non-protein coding RNA 359 [Gene - HGNC]
  • LINC00363:long intergenic non-protein coding RNA 363 [Gene - HGNC]
  • LINC00373:long intergenic non-protein coding RNA 373 [Gene - HGNC]
  • LINC00375:long intergenic non-protein coding RNA 375 [Gene - HGNC]
  • LINC00379:long intergenic non-protein coding RNA 379 [Gene - HGNC]
  • LINC00380:long intergenic non-protein coding RNA 380 [Gene - HGNC]
  • LINC00391:long intergenic non-protein coding RNA 391 [Gene - HGNC]
  • LINC00397:long intergenic non-protein coding RNA 397 [Gene - HGNC]
  • LINC00410:long intergenic non-protein coding RNA 410 [Gene - HGNC]
  • LINC00411:long intergenic non-protein coding RNA 411 [Gene - HGNC]
  • LINC00430:long intergenic non-protein coding RNA 430 [Gene - HGNC]
  • LINC00433:long intergenic non-protein coding RNA 433 [Gene - HGNC]
  • LINC00440:long intergenic non-protein coding RNA 440 [Gene - HGNC]
  • LINC00449:long intergenic non-protein coding RNA 449 [Gene - HGNC]
  • LINC00456:long intergenic non-protein coding RNA 456 [Gene - HGNC]
  • LINC00554:long intergenic non-protein coding RNA 554 [Gene - HGNC]
  • LINC00557:long intergenic non-protein coding RNA 557 [Gene - HGNC]
  • LINC00559:long intergenic non-protein coding RNA 559 [Gene - HGNC]
  • LINC00560:long intergenic non-protein coding RNA 560 [Gene - HGNC]
  • METTL21C:methyltransferase 21C, AARS1 lysine [Gene - OMIM - HGNC]
  • MIR17HG:miR-17-92a-1 cluster host gene [Gene - OMIM - HGNC]
  • MIR17:microRNA 17 [Gene - OMIM - HGNC]
  • MIR18A:microRNA 18a [Gene - OMIM - HGNC]
  • MIR19A:microRNA 19a [Gene - OMIM - HGNC]
  • MIR19B1:microRNA 19b-1 [Gene - OMIM - HGNC]
  • MIR20A:microRNA 20a [Gene - OMIM - HGNC]
  • MIR2681:microRNA 2681 [Gene - HGNC]
  • MIR3170:microRNA 3170 [Gene - HGNC]
  • MIR4306:microRNA 4306 [Gene - HGNC]
  • MIR4500:microRNA 4500 [Gene - HGNC]
  • MIR4501:microRNA 4501 [Gene - HGNC]
  • MIR4705:microRNA 4705 [Gene - HGNC]
  • MIR548AS:microRNA 548as [Gene - HGNC]
  • MIR622:microRNA 622 [Gene - HGNC]
  • MIR623:microRNA 623 [Gene - HGNC]
  • MIR92A1:microRNA 92a-1 [Gene - OMIM - HGNC]
  • MBNL2:muscleblind like splicing regulator 2 [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]
  • SNORD13G:small nucleolar RNA, C/D box 13G [Gene - HGNC]
  • SNORA107:small nucleolar RNA, H/ACA box 107 [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]
  • TRF-GAA1-5:tRNA-Phe (anticodon GAA) 1-5 [Gene - 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]
  • LOC101927284:uncharacterized LOC101927284 [Gene]
  • LOC112268114:uncharacterized LOC112268114 [Gene]
Variant type:
copy number gain
Cytogenetic location:
13q31.1-33.2
Genomic location:
Preferred name:
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3
HGVS:
  • NC_000013.11:g.(?_82032938)_(106082542_?)dup
  • NC_000013.10:g.(?_82607073)_(106734891_?)dup
  • NC_000013.9:g.(?_81505074)_(105532892_?)dup
Links:
dbVar: nssv578656; dbVar: nsv529722
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
SCV000078523ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000078523.5

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

Last Updated: Sep 1, 2024