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GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 6, 2013
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:
RCV000141559.5

Allele description [Variation Report for GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1]

GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • ABR-AS1:ABR antisense RNA 1 [Gene - HGNC]
  • LOC130059858:ATAC-STARR-seq lymphoblastoid active region 11437 [Gene]
  • LOC130059861:ATAC-STARR-seq lymphoblastoid active region 11438 [Gene]
  • LOC130059865:ATAC-STARR-seq lymphoblastoid active region 11439 [Gene]
  • LOC130059868:ATAC-STARR-seq lymphoblastoid active region 11440 [Gene]
  • LOC130059869:ATAC-STARR-seq lymphoblastoid active region 11442 [Gene]
  • LOC130059870:ATAC-STARR-seq lymphoblastoid active region 11443 [Gene]
  • LOC130059871:ATAC-STARR-seq lymphoblastoid active region 11444 [Gene]
  • LOC130059872:ATAC-STARR-seq lymphoblastoid active region 11446 [Gene]
  • LOC130059873:ATAC-STARR-seq lymphoblastoid active region 11447 [Gene]
  • LOC130059876:ATAC-STARR-seq lymphoblastoid active region 11448 [Gene]
  • LOC130059877:ATAC-STARR-seq lymphoblastoid active region 11449 [Gene]
  • LOC130059879:ATAC-STARR-seq lymphoblastoid active region 11450 [Gene]
  • LOC130059880:ATAC-STARR-seq lymphoblastoid active region 11451 [Gene]
  • LOC130059881:ATAC-STARR-seq lymphoblastoid active region 11452 [Gene]
  • LOC130059886:ATAC-STARR-seq lymphoblastoid active region 11453 [Gene]
  • LOC130059887:ATAC-STARR-seq lymphoblastoid active region 11454 [Gene]
  • LOC130059890:ATAC-STARR-seq lymphoblastoid active region 11455 [Gene]
  • LOC130059891:ATAC-STARR-seq lymphoblastoid active region 11456 [Gene]
  • LOC130059892:ATAC-STARR-seq lymphoblastoid active region 11457 [Gene]
  • LOC130059893:ATAC-STARR-seq lymphoblastoid active region 11458 [Gene]
  • LOC130059896:ATAC-STARR-seq lymphoblastoid active region 11459 [Gene]
  • LOC130059897:ATAC-STARR-seq lymphoblastoid active region 11460 [Gene]
  • LOC130059898:ATAC-STARR-seq lymphoblastoid active region 11461 [Gene]
  • LOC130059900:ATAC-STARR-seq lymphoblastoid active region 11462 [Gene]
  • LOC130059902:ATAC-STARR-seq lymphoblastoid active region 11463 [Gene]
  • LOC130059920:ATAC-STARR-seq lymphoblastoid active region 11464 [Gene]
  • LOC130059921:ATAC-STARR-seq lymphoblastoid active region 11465 [Gene]
  • LOC130059922:ATAC-STARR-seq lymphoblastoid active region 11466 [Gene]
  • LOC130059923:ATAC-STARR-seq lymphoblastoid active region 11468 [Gene]
  • LOC130059924:ATAC-STARR-seq lymphoblastoid active region 11469 [Gene]
  • LOC130059925:ATAC-STARR-seq lymphoblastoid active region 11470 [Gene]
  • LOC130059926:ATAC-STARR-seq lymphoblastoid active region 11471 [Gene]
  • LOC130059927:ATAC-STARR-seq lymphoblastoid active region 11472 [Gene]
  • LOC130059928:ATAC-STARR-seq lymphoblastoid active region 11473 [Gene]
  • LOC130059929:ATAC-STARR-seq lymphoblastoid active region 11474 [Gene]
  • LOC130059930:ATAC-STARR-seq lymphoblastoid active region 11475 [Gene]
  • LOC130059931:ATAC-STARR-seq lymphoblastoid active region 11476 [Gene]
  • LOC130059932:ATAC-STARR-seq lymphoblastoid active region 11477 [Gene]
  • LOC130059934:ATAC-STARR-seq lymphoblastoid active region 11478 [Gene]
  • LOC130059936:ATAC-STARR-seq lymphoblastoid active region 11479 [Gene]
  • LOC130059937:ATAC-STARR-seq lymphoblastoid active region 11480 [Gene]
  • LOC130059938:ATAC-STARR-seq lymphoblastoid active region 11481 [Gene]
  • LOC130059939:ATAC-STARR-seq lymphoblastoid active region 11482 [Gene]
  • LOC130059940:ATAC-STARR-seq lymphoblastoid active region 11483 [Gene]
  • LOC130059941:ATAC-STARR-seq lymphoblastoid active region 11484 [Gene]
  • LOC130059942:ATAC-STARR-seq lymphoblastoid active region 11485 [Gene]
  • LOC130059943:ATAC-STARR-seq lymphoblastoid active region 11486 [Gene]
  • LOC130059944:ATAC-STARR-seq lymphoblastoid active region 11487 [Gene]
  • LOC130059945:ATAC-STARR-seq lymphoblastoid active region 11488 [Gene]
  • LOC130059946:ATAC-STARR-seq lymphoblastoid active region 11489 [Gene]
  • LOC130059947:ATAC-STARR-seq lymphoblastoid active region 11490 [Gene]
  • LOC130059953:ATAC-STARR-seq lymphoblastoid active region 11491 [Gene]
  • LOC130059954:ATAC-STARR-seq lymphoblastoid active region 11492 [Gene]
  • LOC130059959:ATAC-STARR-seq lymphoblastoid active region 11493 [Gene]
  • LOC130059961:ATAC-STARR-seq lymphoblastoid active region 11494 [Gene]
  • LOC130059962:ATAC-STARR-seq lymphoblastoid active region 11495 [Gene]
  • LOC130059963:ATAC-STARR-seq lymphoblastoid active region 11496 [Gene]
  • LOC130059967:ATAC-STARR-seq lymphoblastoid active region 11497 [Gene]
  • LOC130059968:ATAC-STARR-seq lymphoblastoid active region 11498 [Gene]
  • LOC130059970:ATAC-STARR-seq lymphoblastoid active region 11499 [Gene]
  • LOC130059971:ATAC-STARR-seq lymphoblastoid active region 11500 [Gene]
  • LOC130059972:ATAC-STARR-seq lymphoblastoid active region 11501 [Gene]
  • LOC130059973:ATAC-STARR-seq lymphoblastoid active region 11502 [Gene]
  • LOC130059974:ATAC-STARR-seq lymphoblastoid active region 11503 [Gene]
  • LOC130059977:ATAC-STARR-seq lymphoblastoid active region 11509 [Gene]
  • LOC130059978:ATAC-STARR-seq lymphoblastoid active region 11510 [Gene]
  • LOC130059980:ATAC-STARR-seq lymphoblastoid active region 11511 [Gene]
  • LOC130059983:ATAC-STARR-seq lymphoblastoid active region 11512 [Gene]
  • LOC130059984:ATAC-STARR-seq lymphoblastoid active region 11513 [Gene]
  • LOC130059985:ATAC-STARR-seq lymphoblastoid active region 11514 [Gene]
  • LOC130059987:ATAC-STARR-seq lymphoblastoid active region 11515 [Gene]
  • LOC130059988:ATAC-STARR-seq lymphoblastoid active region 11516 [Gene]
  • LOC130059989:ATAC-STARR-seq lymphoblastoid active region 11517 [Gene]
  • LOC130059990:ATAC-STARR-seq lymphoblastoid active region 11520 [Gene]
  • LOC130059991:ATAC-STARR-seq lymphoblastoid active region 11521 [Gene]
  • LOC130059997:ATAC-STARR-seq lymphoblastoid active region 11522 [Gene]
  • LOC130059998:ATAC-STARR-seq lymphoblastoid active region 11523 [Gene]
  • LOC130059999:ATAC-STARR-seq lymphoblastoid active region 11524 [Gene]
  • LOC130060000:ATAC-STARR-seq lymphoblastoid active region 11525 [Gene]
  • LOC130060001:ATAC-STARR-seq lymphoblastoid active region 11526 [Gene]
  • LOC130060002:ATAC-STARR-seq lymphoblastoid active region 11527 [Gene]
  • LOC130060003:ATAC-STARR-seq lymphoblastoid active region 11528 [Gene]
  • LOC130060009:ATAC-STARR-seq lymphoblastoid active region 11529 [Gene]
  • LOC130060010:ATAC-STARR-seq lymphoblastoid active region 11530 [Gene]
  • LOC130060013:ATAC-STARR-seq lymphoblastoid active region 11531 [Gene]
  • LOC130060014:ATAC-STARR-seq lymphoblastoid active region 11532 [Gene]
  • LOC130060015:ATAC-STARR-seq lymphoblastoid active region 11533 [Gene]
  • LOC130060016:ATAC-STARR-seq lymphoblastoid active region 11534 [Gene]
  • LOC130060018:ATAC-STARR-seq lymphoblastoid active region 11537 [Gene]
  • LOC130060020:ATAC-STARR-seq lymphoblastoid active region 11538 [Gene]
  • LOC130060021:ATAC-STARR-seq lymphoblastoid active region 11539 [Gene]
  • LOC130060024:ATAC-STARR-seq lymphoblastoid active region 11541 [Gene]
  • LOC130060028:ATAC-STARR-seq lymphoblastoid active region 11542 [Gene]
  • LOC130060029:ATAC-STARR-seq lymphoblastoid active region 11543 [Gene]
  • LOC130060030:ATAC-STARR-seq lymphoblastoid active region 11544 [Gene]
  • LOC130060032:ATAC-STARR-seq lymphoblastoid active region 11545 [Gene]
  • LOC130059857:ATAC-STARR-seq lymphoblastoid silent region 7938 [Gene]
  • LOC130059859:ATAC-STARR-seq lymphoblastoid silent region 7939 [Gene]
  • LOC130059860:ATAC-STARR-seq lymphoblastoid silent region 7940 [Gene]
  • LOC130059862:ATAC-STARR-seq lymphoblastoid silent region 7941 [Gene]
  • LOC130059863:ATAC-STARR-seq lymphoblastoid silent region 7942 [Gene]
  • LOC130059864:ATAC-STARR-seq lymphoblastoid silent region 7943 [Gene]
  • LOC130059866:ATAC-STARR-seq lymphoblastoid silent region 7944 [Gene]
  • LOC130059867:ATAC-STARR-seq lymphoblastoid silent region 7945 [Gene]
  • LOC130059874:ATAC-STARR-seq lymphoblastoid silent region 7948 [Gene]
  • LOC130059875:ATAC-STARR-seq lymphoblastoid silent region 7949 [Gene]
  • LOC130059878:ATAC-STARR-seq lymphoblastoid silent region 7954 [Gene]
  • LOC130059882:ATAC-STARR-seq lymphoblastoid silent region 7955 [Gene]
  • LOC130059883:ATAC-STARR-seq lymphoblastoid silent region 7956 [Gene]
  • LOC130059884:ATAC-STARR-seq lymphoblastoid silent region 7957 [Gene]
  • LOC130059885:ATAC-STARR-seq lymphoblastoid silent region 7960 [Gene]
  • LOC130059888:ATAC-STARR-seq lymphoblastoid silent region 7961 [Gene]
  • LOC130059889:ATAC-STARR-seq lymphoblastoid silent region 7962 [Gene]
  • LOC130059894:ATAC-STARR-seq lymphoblastoid silent region 7964 [Gene]
  • LOC130059895:ATAC-STARR-seq lymphoblastoid silent region 7965 [Gene]
  • LOC130059899:ATAC-STARR-seq lymphoblastoid silent region 7966 [Gene]
  • LOC130059901:ATAC-STARR-seq lymphoblastoid silent region 7967 [Gene]
  • LOC130059903:ATAC-STARR-seq lymphoblastoid silent region 7968 [Gene]
  • LOC130059904:ATAC-STARR-seq lymphoblastoid silent region 7969 [Gene]
  • LOC130059905:ATAC-STARR-seq lymphoblastoid silent region 7970 [Gene]
  • LOC130059906:ATAC-STARR-seq lymphoblastoid silent region 7971 [Gene]
  • LOC130059907:ATAC-STARR-seq lymphoblastoid silent region 7972 [Gene]
  • LOC130059908:ATAC-STARR-seq lymphoblastoid silent region 7973 [Gene]
  • LOC130059909:ATAC-STARR-seq lymphoblastoid silent region 7974 [Gene]
  • LOC130059910:ATAC-STARR-seq lymphoblastoid silent region 7975 [Gene]
  • LOC130059911:ATAC-STARR-seq lymphoblastoid silent region 7976 [Gene]
  • LOC130059912:ATAC-STARR-seq lymphoblastoid silent region 7977 [Gene]
  • LOC130059913:ATAC-STARR-seq lymphoblastoid silent region 7978 [Gene]
  • LOC130059914:ATAC-STARR-seq lymphoblastoid silent region 7979 [Gene]
  • LOC130059915:ATAC-STARR-seq lymphoblastoid silent region 7980 [Gene]
  • LOC130059916:ATAC-STARR-seq lymphoblastoid silent region 7981 [Gene]
  • LOC130059917:ATAC-STARR-seq lymphoblastoid silent region 7983 [Gene]
  • LOC130059918:ATAC-STARR-seq lymphoblastoid silent region 7984 [Gene]
  • LOC130059919:ATAC-STARR-seq lymphoblastoid silent region 7985 [Gene]
  • LOC130059933:ATAC-STARR-seq lymphoblastoid silent region 7986 [Gene]
  • LOC130059935:ATAC-STARR-seq lymphoblastoid silent region 7987 [Gene]
  • LOC130059948:ATAC-STARR-seq lymphoblastoid silent region 7990 [Gene]
  • LOC130059949:ATAC-STARR-seq lymphoblastoid silent region 7991 [Gene]
  • LOC130059950:ATAC-STARR-seq lymphoblastoid silent region 7992 [Gene]
  • LOC130059951:ATAC-STARR-seq lymphoblastoid silent region 7993 [Gene]
  • LOC130059952:ATAC-STARR-seq lymphoblastoid silent region 7994 [Gene]
  • LOC130059955:ATAC-STARR-seq lymphoblastoid silent region 7998 [Gene]
  • LOC130059956:ATAC-STARR-seq lymphoblastoid silent region 8000 [Gene]
  • LOC130059957:ATAC-STARR-seq lymphoblastoid silent region 8001 [Gene]
  • LOC130059958:ATAC-STARR-seq lymphoblastoid silent region 8002 [Gene]
  • LOC130059960:ATAC-STARR-seq lymphoblastoid silent region 8004 [Gene]
  • LOC130059964:ATAC-STARR-seq lymphoblastoid silent region 8006 [Gene]
  • LOC130059965:ATAC-STARR-seq lymphoblastoid silent region 8007 [Gene]
  • LOC130059966:ATAC-STARR-seq lymphoblastoid silent region 8008 [Gene]
  • LOC130059969:ATAC-STARR-seq lymphoblastoid silent region 8011 [Gene]
  • LOC130059975:ATAC-STARR-seq lymphoblastoid silent region 8012 [Gene]
  • LOC130059976:ATAC-STARR-seq lymphoblastoid silent region 8013 [Gene]
  • LOC130059979:ATAC-STARR-seq lymphoblastoid silent region 8014 [Gene]
  • LOC130059981:ATAC-STARR-seq lymphoblastoid silent region 8015 [Gene]
  • LOC130059982:ATAC-STARR-seq lymphoblastoid silent region 8017 [Gene]
  • LOC130059986:ATAC-STARR-seq lymphoblastoid silent region 8018 [Gene]
  • LOC130059992:ATAC-STARR-seq lymphoblastoid silent region 8020 [Gene]
  • LOC130059993:ATAC-STARR-seq lymphoblastoid silent region 8021 [Gene]
  • LOC130059994:ATAC-STARR-seq lymphoblastoid silent region 8022 [Gene]
  • LOC130059995:ATAC-STARR-seq lymphoblastoid silent region 8023 [Gene]
  • LOC130059996:ATAC-STARR-seq lymphoblastoid silent region 8024 [Gene]
  • LOC130060004:ATAC-STARR-seq lymphoblastoid silent region 8025 [Gene]
  • LOC130060005:ATAC-STARR-seq lymphoblastoid silent region 8026 [Gene]
  • LOC130060006:ATAC-STARR-seq lymphoblastoid silent region 8027 [Gene]
  • LOC130060007:ATAC-STARR-seq lymphoblastoid silent region 8028 [Gene]
  • LOC130060008:ATAC-STARR-seq lymphoblastoid silent region 8029 [Gene]
  • LOC130060011:ATAC-STARR-seq lymphoblastoid silent region 8030 [Gene]
  • LOC130060012:ATAC-STARR-seq lymphoblastoid silent region 8031 [Gene]
  • LOC130060017:ATAC-STARR-seq lymphoblastoid silent region 8033 [Gene]
  • LOC130060019:ATAC-STARR-seq lymphoblastoid silent region 8034 [Gene]
  • LOC130060022:ATAC-STARR-seq lymphoblastoid silent region 8037 [Gene]
  • LOC130060023:ATAC-STARR-seq lymphoblastoid silent region 8038 [Gene]
  • LOC130060025:ATAC-STARR-seq lymphoblastoid silent region 8039 [Gene]
  • LOC130060026:ATAC-STARR-seq lymphoblastoid silent region 8040 [Gene]
  • LOC130060027:ATAC-STARR-seq lymphoblastoid silent region 8041 [Gene]
  • LOC130060031:ATAC-STARR-seq lymphoblastoid silent region 8042 [Gene]
  • ATP2A3:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • LOC126862461:BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 [Gene]
  • LOC126862455:BRD4-independent group 4 enhancer GRCh37_chr17:252557-253756 [Gene]
  • LOC126862465:BRD4-independent group 4 enhancer GRCh37_chr17:3831158-3832357 [Gene]
  • LOC126862468:BRD4-independent group 4 enhancer GRCh37_chr17:4541217-4542416 [Gene]
  • LOC126862457:BRD4-independent group 4 enhancer GRCh37_chr17:504328-505527 [Gene]
  • LOC126862458:BRD4-independent group 4 enhancer GRCh37_chr17:560426-561625 [Gene]
  • LOC126862459:BRD4-independent group 4 enhancer GRCh37_chr17:800010-801209 [Gene]
  • CXCL16:C-X-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
  • LOC126862460:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:1974493-1975692 [Gene]
  • LOC126862463:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:3478292-3479491 [Gene]
  • LOC126862467:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4392946-4394145 [Gene]
  • LOC126862469:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4621547-4622746 [Gene]
  • LOC126862456:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:463241-464440 [Gene]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • CTNS-AS1:CTNS antisense RNA 1 [Gene - HGNC]
  • EMC6:ER membrane protein complex subunit 6 [Gene - OMIM - HGNC]
  • HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
  • MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
  • LOC126862464:MED14-independent group 3 enhancer GRCh37_chr17:3526895-3528094 [Gene]
  • LOC126862466:MED14-independent group 3 enhancer GRCh37_chr17:4081807-4083006 [Gene]
  • MIR22HG:MIR22 host gene [Gene - HGNC]
  • LOC129390818:MPRA-validated peak2673 silencer [Gene]
  • LOC129390819:MPRA-validated peak2674 silencer [Gene]
  • LOC129390820:MPRA-validated peak2677 silencer [Gene]
  • LOC129390821:MPRA-validated peak2683 silencer [Gene]
  • LOC129390822:MPRA-validated peak2687 silencer [Gene]
  • LOC129390823:MPRA-validated peak2690 silencer [Gene]
  • LOC129390824:MPRA-validated peak2691 silencer [Gene]
  • LOC129390825:MPRA-validated peak2695 silencer [Gene]
  • LOC129390826:MPRA-validated peak2699 silencer [Gene]
  • MYBBP1A:MYB binding protein 1a [Gene - OMIM - HGNC]
  • LOC132090460:Neanderthal introgressed variant-containing enhancer experimental_47177/47178 [Gene]
  • LOC132090461:Neanderthal introgressed variant-containing enhancer experimental_47179 [Gene]
  • LOC132090462:Neanderthal introgressed variant-containing enhancer experimental_47181 [Gene]
  • LOC132090463:Neanderthal introgressed variant-containing enhancer experimental_47184 [Gene]
  • LOC132090464:Neanderthal introgressed variant-containing enhancer experimental_47187 [Gene]
  • LOC132090893:Neanderthal introgressed variant-containing enhancer experimental_47196 [Gene]
  • LOC132090465:Neanderthal introgressed variant-containing enhancer experimental_47199 [Gene]
  • LOC132090466:Neanderthal introgressed variant-containing enhancer experimental_47200 [Gene]
  • LOC132090467:Neanderthal introgressed variant-containing enhancer experimental_47201 [Gene]
  • LOC132090468:Neanderthal introgressed variant-containing enhancer experimental_47204 [Gene]
  • LOC132090469:Neanderthal introgressed variant-containing enhancer experimental_47205 [Gene]
  • LOC132090470:Neanderthal introgressed variant-containing enhancer experimental_47206 [Gene]
  • LOC132090471:Neanderthal introgressed variant-containing enhancer experimental_47207 [Gene]
  • LOC132090472:Neanderthal introgressed variant-containing enhancer experimental_47209 [Gene]
  • LOC132090473:Neanderthal introgressed variant-containing enhancer experimental_47211 [Gene]
  • LOC132090474:Neanderthal introgressed variant-containing enhancer experimental_47214 [Gene]
  • LOC132090475:Neanderthal introgressed variant-containing enhancer experimental_47220 [Gene]
  • LOC132090483:Neanderthal introgressed variant-containing enhancer experimental_47633 [Gene]
  • OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
  • P2RX5-TAX1BP3:P2RX5-TAX1BP3 readthrough (NMD candidate) [Gene - HGNC]
  • LOC126862454:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:216819-218018 [Gene]
  • LOC126862462:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:2795785-2796984 [Gene]
  • PELP1-DT:PELP1 divergent transcript [Gene - HGNC]
  • PITPNA-AS1:PITPNA antisense RNA 1 [Gene - HGNC]
  • RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
  • RPH3AL-AS1:RPH3AL antisense RNA 1 [Gene - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
  • SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SPNS2:SPNS lysolipid transporter 2, sphingosine-1-phosphate [Gene - OMIM - HGNC]
  • SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
  • LOC121848006:Sharpr-MPRA regulatory region 11291 [Gene]
  • LOC121848002:Sharpr-MPRA regulatory region 11717 [Gene]
  • LOC125177405:Sharpr-MPRA regulatory region 13179 [Gene]
  • LOC121848003:Sharpr-MPRA regulatory region 13189 [Gene]
  • LOC121587571:Sharpr-MPRA regulatory region 13848 [Gene]
  • LOC121848004:Sharpr-MPRA regulatory region 14526 [Gene]
  • LOC125177400:Sharpr-MPRA regulatory region 15051 [Gene]
  • LOC125177398:Sharpr-MPRA regulatory region 15212 [Gene]
  • LOC125177403:Sharpr-MPRA regulatory region 224 [Gene]
  • LOC112529901:Sharpr-MPRA regulatory region 2375 [Gene]
  • LOC125177407:Sharpr-MPRA regulatory region 3058 [Gene]
  • LOC125177404:Sharpr-MPRA regulatory region 4635 [Gene]
  • LOC112529892:Sharpr-MPRA regulatory region 4720 [Gene]
  • LOC112529893:Sharpr-MPRA regulatory region 4981 [Gene]
  • LOC121848005:Sharpr-MPRA regulatory region 669 [Gene]
  • LOC125177406:Sharpr-MPRA regulatory region 7021 [Gene]
  • LOC125177399:Sharpr-MPRA regulatory region 8461 [Gene]
  • LOC121587568:Sharpr-MPRA regulatory region 8532 [Gene]
  • LOC121587569:Sharpr-MPRA regulatory region 9475 [Gene]
  • LOC121587570:Sharpr-MPRA regulatory region 9675 [Gene]
  • LOC125177401:Sharpr-MPRA regulatory region 9814 [Gene]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
  • TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
  • LOC110121369:VISTA enhancer hs1445 [Gene]
  • LOC110120951:VISTA enhancer hs924 [Gene]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
  • LOC111413025:ZFP161 motif-containing MPRA enhancer 161/162 [Gene]
  • ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • ALOX15:arachidonate 15-lipoxygenase [Gene - OMIM - HGNC]
  • ARRB2:arrestin beta 2 [Gene - OMIM - HGNC]
  • ASPA:aspartoacylase [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • CAMKK1:calcium/calmodulin dependent protein kinase kinase 1 [Gene - OMIM - HGNC]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • CCDC92B:coiled-coil domain containing 92B [Gene - HGNC]
  • CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
  • CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
  • DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
  • GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
  • LOC107988047:heart enhancer 8 [Gene]
  • HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
  • LIAT1:ligand of ATE1 [Gene - HGNC]
  • LINC01975:long intergenic non-protein coding RNA 1975 [Gene - HGNC]
  • LINC01996:long intergenic non-protein coding RNA 1996 [Gene - HGNC]
  • MED11:mediator complex subunit 11 [Gene - OMIM - HGNC]
  • METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
  • MIR1253:microRNA 1253 [Gene - HGNC]
  • MIR132:microRNA 132 [Gene - OMIM - HGNC]
  • MIR212:microRNA 212 [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MIR3183:microRNA 3183 [Gene - HGNC]
  • MIR6776:microRNA 6776 [Gene - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • LOC106799838:nonconserved acetylation island sequence 85 enhancer [Gene]
  • NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [Gene - OMIM - HGNC]
  • OR1A1:olfactory receptor family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • OR1A2:olfactory receptor family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • OR1D2:olfactory receptor family 1 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR1D4:olfactory receptor family 1 subfamily D member 4 [Gene - HGNC]
  • OR1D5:olfactory receptor family 1 subfamily D member 5 [Gene - HGNC]
  • OR1E1:olfactory receptor family 1 subfamily E member 1 [Gene - HGNC]
  • OR1E2:olfactory receptor family 1 subfamily E member 2 [Gene - HGNC]
  • OR1G1:olfactory receptor family 1 subfamily G member 1 [Gene - HGNC]
  • OR1R1P:olfactory receptor family 1 subfamily R member 1 pseudogene [Gene - HGNC]
  • OR3A1:olfactory receptor family 3 subfamily A member 1 [Gene - HGNC]
  • OR3A2:olfactory receptor family 3 subfamily A member 2 [Gene - HGNC]
  • OR3A3:olfactory receptor family 3 subfamily A member 3 [Gene - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
  • PELP1:proline, glutamate and leucine rich protein 1 [Gene - OMIM - HGNC]
  • P2RX1:purinergic receptor P2X 1 [Gene - OMIM - HGNC]
  • P2RX5:purinergic receptor P2X 5 [Gene - OMIM - HGNC]
  • RPH3AL:rabphilin 3A like (without C2 domains) [Gene - OMIM - HGNC]
  • RFLNB:refilin B [Gene - OMIM - HGNC]
  • RPA1:replication protein A1 [Gene - OMIM - HGNC]
  • RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
  • SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
  • SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
  • SRR:serine racemase [Gene - OMIM - HGNC]
  • SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
  • SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
  • SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
  • SNORD91A:small nucleolar RNA, C/D box 91A [Gene - HGNC]
  • SNORD91B:small nucleolar RNA, C/D box 91B [Gene - HGNC]
  • SMTNL2:smoothelin like 2 [Gene - HGNC]
  • SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
  • SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
  • TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
  • TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
  • TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
  • TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
  • UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
  • LOC100288728:uncharacterized LOC100288728 [Gene]
  • LOC101927727:uncharacterized LOC101927727 [Gene]
  • LOC101927839:uncharacterized LOC101927839 [Gene]
  • LOC101927911:uncharacterized LOC101927911 [Gene]
  • LOC105371430:uncharacterized LOC105371430 [Gene]
  • LOC105371485:uncharacterized LOC105371485 [Gene]
  • LOC105371490:uncharacterized LOC105371490 [Gene]
  • LOC105371592:uncharacterized LOC105371592 [Gene]
  • LOC284009:uncharacterized LOC284009 [Gene]
  • ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p13.3-13.2
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1
HGVS:
  • NC_000017.11:g.(?_237248)_(4735533_?)del
  • NC_000017.10:g.(?_396627)_(4638828_?)del
  • NC_000017.9:g.(?_87039)_(4585577_?)del
Links:
dbVar: nssv3395744; dbVar: nsv995057
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
SCV000182476ISCA site 10

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 6, 2013) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 10, SCV000182476.3

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

Last Updated: Sep 1, 2024