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GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 21, 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:
RCV000139158.6

Allele description [Variation Report for GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1]

GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1

Genes:
  • AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
  • LOC130066811:ATAC-STARR-seq lymphoblastoid active region 18265 [Gene]
  • LOC130066691:ATAC-STARR-seq lymphoblastoid active region 18470 [Gene]
  • LOC130066692:ATAC-STARR-seq lymphoblastoid active region 18471 [Gene]
  • LOC130066693:ATAC-STARR-seq lymphoblastoid active region 18472 [Gene]
  • LOC130066695:ATAC-STARR-seq lymphoblastoid active region 18473 [Gene]
  • LOC130066696:ATAC-STARR-seq lymphoblastoid active region 18474 [Gene]
  • LOC130066698:ATAC-STARR-seq lymphoblastoid active region 18477 [Gene]
  • LOC130066699:ATAC-STARR-seq lymphoblastoid active region 18478 [Gene]
  • LOC130066700:ATAC-STARR-seq lymphoblastoid active region 18479 [Gene]
  • LOC130066701:ATAC-STARR-seq lymphoblastoid active region 18480 [Gene]
  • LOC130066702:ATAC-STARR-seq lymphoblastoid active region 18481 [Gene]
  • LOC130066703:ATAC-STARR-seq lymphoblastoid active region 18483 [Gene]
  • LOC130066704:ATAC-STARR-seq lymphoblastoid active region 18484 [Gene]
  • LOC130066705:ATAC-STARR-seq lymphoblastoid active region 18485 [Gene]
  • LOC130066706:ATAC-STARR-seq lymphoblastoid active region 18486 [Gene]
  • LOC130066707:ATAC-STARR-seq lymphoblastoid active region 18487 [Gene]
  • LOC130066708:ATAC-STARR-seq lymphoblastoid active region 18488 [Gene]
  • LOC130066709:ATAC-STARR-seq lymphoblastoid active region 18489 [Gene]
  • LOC130066710:ATAC-STARR-seq lymphoblastoid active region 18490 [Gene]
  • LOC130066711:ATAC-STARR-seq lymphoblastoid active region 18491 [Gene]
  • LOC130066712:ATAC-STARR-seq lymphoblastoid active region 18492 [Gene]
  • LOC130066714:ATAC-STARR-seq lymphoblastoid active region 18493 [Gene]
  • LOC130066715:ATAC-STARR-seq lymphoblastoid active region 18494 [Gene]
  • LOC130066716:ATAC-STARR-seq lymphoblastoid active region 18495 [Gene]
  • LOC130066717:ATAC-STARR-seq lymphoblastoid active region 18496 [Gene]
  • LOC130066718:ATAC-STARR-seq lymphoblastoid active region 18497 [Gene]
  • LOC130066722:ATAC-STARR-seq lymphoblastoid active region 18498 [Gene]
  • LOC130066723:ATAC-STARR-seq lymphoblastoid active region 18499 [Gene]
  • LOC130066724:ATAC-STARR-seq lymphoblastoid active region 18500 [Gene]
  • LOC130066725:ATAC-STARR-seq lymphoblastoid active region 18501 [Gene]
  • LOC130066726:ATAC-STARR-seq lymphoblastoid active region 18502 [Gene]
  • LOC130066727:ATAC-STARR-seq lymphoblastoid active region 18504 [Gene]
  • LOC130066728:ATAC-STARR-seq lymphoblastoid active region 18505 [Gene]
  • LOC130066729:ATAC-STARR-seq lymphoblastoid active region 18506 [Gene]
  • LOC130066731:ATAC-STARR-seq lymphoblastoid active region 18507 [Gene]
  • LOC130066732:ATAC-STARR-seq lymphoblastoid active region 18508 [Gene]
  • LOC130066735:ATAC-STARR-seq lymphoblastoid active region 18509 [Gene]
  • LOC130066736:ATAC-STARR-seq lymphoblastoid active region 18510 [Gene]
  • LOC130066738:ATAC-STARR-seq lymphoblastoid active region 18511 [Gene]
  • LOC130066739:ATAC-STARR-seq lymphoblastoid active region 18512 [Gene]
  • LOC130066741:ATAC-STARR-seq lymphoblastoid active region 18513 [Gene]
  • LOC130066742:ATAC-STARR-seq lymphoblastoid active region 18516 [Gene]
  • LOC130066744:ATAC-STARR-seq lymphoblastoid active region 18517 [Gene]
  • LOC130066745:ATAC-STARR-seq lymphoblastoid active region 18518 [Gene]
  • LOC130066746:ATAC-STARR-seq lymphoblastoid active region 18519 [Gene]
  • LOC130066747:ATAC-STARR-seq lymphoblastoid active region 18520 [Gene]
  • LOC130066748:ATAC-STARR-seq lymphoblastoid active region 18521 [Gene]
  • LOC130066753:ATAC-STARR-seq lymphoblastoid active region 18522 [Gene]
  • LOC130066754:ATAC-STARR-seq lymphoblastoid active region 18523 [Gene]
  • LOC130066755:ATAC-STARR-seq lymphoblastoid active region 18524 [Gene]
  • LOC130066756:ATAC-STARR-seq lymphoblastoid active region 18525 [Gene]
  • LOC130066757:ATAC-STARR-seq lymphoblastoid active region 18526 [Gene]
  • LOC130066758:ATAC-STARR-seq lymphoblastoid active region 18527 [Gene]
  • LOC130066759:ATAC-STARR-seq lymphoblastoid active region 18528 [Gene]
  • LOC130066761:ATAC-STARR-seq lymphoblastoid active region 18529 [Gene]
  • LOC130066762:ATAC-STARR-seq lymphoblastoid active region 18530 [Gene]
  • LOC130066763:ATAC-STARR-seq lymphoblastoid active region 18531 [Gene]
  • LOC130066764:ATAC-STARR-seq lymphoblastoid active region 18532 [Gene]
  • LOC130066771:ATAC-STARR-seq lymphoblastoid active region 18537 [Gene]
  • LOC130066772:ATAC-STARR-seq lymphoblastoid active region 18538 [Gene]
  • LOC130066773:ATAC-STARR-seq lymphoblastoid active region 18539 [Gene]
  • LOC130066775:ATAC-STARR-seq lymphoblastoid active region 18540 [Gene]
  • LOC130066776:ATAC-STARR-seq lymphoblastoid active region 18541 [Gene]
  • LOC130066777:ATAC-STARR-seq lymphoblastoid active region 18542 [Gene]
  • LOC130066781:ATAC-STARR-seq lymphoblastoid active region 18544 [Gene]
  • LOC130066782:ATAC-STARR-seq lymphoblastoid active region 18545 [Gene]
  • LOC130066784:ATAC-STARR-seq lymphoblastoid active region 18546 [Gene]
  • LOC130066787:ATAC-STARR-seq lymphoblastoid active region 18547 [Gene]
  • LOC130066790:ATAC-STARR-seq lymphoblastoid active region 18548 [Gene]
  • LOC130066792:ATAC-STARR-seq lymphoblastoid active region 18549 [Gene]
  • LOC130066793:ATAC-STARR-seq lymphoblastoid active region 18550 [Gene]
  • LOC130066794:ATAC-STARR-seq lymphoblastoid active region 18551 [Gene]
  • LOC130066795:ATAC-STARR-seq lymphoblastoid active region 18552 [Gene]
  • LOC130066799:ATAC-STARR-seq lymphoblastoid active region 18553 [Gene]
  • LOC130066800:ATAC-STARR-seq lymphoblastoid active region 18554 [Gene]
  • LOC130066801:ATAC-STARR-seq lymphoblastoid active region 18555 [Gene]
  • LOC130066803:ATAC-STARR-seq lymphoblastoid active region 18558 [Gene]
  • LOC130066807:ATAC-STARR-seq lymphoblastoid active region 18560 [Gene]
  • LOC130066808:ATAC-STARR-seq lymphoblastoid active region 18561 [Gene]
  • LOC130066809:ATAC-STARR-seq lymphoblastoid active region 18562 [Gene]
  • LOC130066812:ATAC-STARR-seq lymphoblastoid active region 18564 [Gene]
  • LOC130066814:ATAC-STARR-seq lymphoblastoid active region 18565 [Gene]
  • LOC130066815:ATAC-STARR-seq lymphoblastoid active region 18566 [Gene]
  • LOC130066816:ATAC-STARR-seq lymphoblastoid active region 18567 [Gene]
  • LOC130066819:ATAC-STARR-seq lymphoblastoid active region 18568 [Gene]
  • LOC130066821:ATAC-STARR-seq lymphoblastoid active region 18569 [Gene]
  • LOC130066824:ATAC-STARR-seq lymphoblastoid active region 18570 [Gene]
  • LOC130066825:ATAC-STARR-seq lymphoblastoid active region 18571 [Gene]
  • LOC130066826:ATAC-STARR-seq lymphoblastoid active region 18572 [Gene]
  • LOC130066827:ATAC-STARR-seq lymphoblastoid active region 18573 [Gene]
  • LOC130066829:ATAC-STARR-seq lymphoblastoid active region 18574 [Gene]
  • LOC130066831:ATAC-STARR-seq lymphoblastoid active region 18575 [Gene]
  • LOC130066836:ATAC-STARR-seq lymphoblastoid active region 18577 [Gene]
  • LOC130066837:ATAC-STARR-seq lymphoblastoid active region 18578 [Gene]
  • LOC130066838:ATAC-STARR-seq lymphoblastoid active region 18580 [Gene]
  • LOC130066841:ATAC-STARR-seq lymphoblastoid active region 18581 [Gene]
  • LOC130066842:ATAC-STARR-seq lymphoblastoid active region 18582 [Gene]
  • LOC130066844:ATAC-STARR-seq lymphoblastoid active region 18583 [Gene]
  • LOC130066845:ATAC-STARR-seq lymphoblastoid active region 18584 [Gene]
  • LOC130066849:ATAC-STARR-seq lymphoblastoid active region 18586 [Gene]
  • LOC130066851:ATAC-STARR-seq lymphoblastoid active region 18590 [Gene]
  • LOC130066852:ATAC-STARR-seq lymphoblastoid active region 18591 [Gene]
  • LOC130066860:ATAC-STARR-seq lymphoblastoid active region 18594 [Gene]
  • LOC130066861:ATAC-STARR-seq lymphoblastoid active region 18595 [Gene]
  • LOC130066865:ATAC-STARR-seq lymphoblastoid active region 18596 [Gene]
  • LOC130066866:ATAC-STARR-seq lymphoblastoid active region 18597 [Gene]
  • LOC130066867:ATAC-STARR-seq lymphoblastoid active region 18598 [Gene]
  • LOC130066871:ATAC-STARR-seq lymphoblastoid active region 18599 [Gene]
  • LOC130066874:ATAC-STARR-seq lymphoblastoid active region 18600 [Gene]
  • LOC130066877:ATAC-STARR-seq lymphoblastoid active region 18601 [Gene]
  • LOC130066878:ATAC-STARR-seq lymphoblastoid active region 18602 [Gene]
  • LOC130066879:ATAC-STARR-seq lymphoblastoid active region 18603 [Gene]
  • LOC130066880:ATAC-STARR-seq lymphoblastoid active region 18604 [Gene]
  • LOC130066883:ATAC-STARR-seq lymphoblastoid active region 18605 [Gene]
  • LOC130066884:ATAC-STARR-seq lymphoblastoid active region 18606 [Gene]
  • LOC130066887:ATAC-STARR-seq lymphoblastoid active region 18607 [Gene]
  • LOC130066810:ATAC-STARR-seq lymphoblastoid silent region 13210 [Gene]
  • LOC130066690:ATAC-STARR-seq lymphoblastoid silent region 13329 [Gene]
  • LOC130066694:ATAC-STARR-seq lymphoblastoid silent region 13330 [Gene]
  • LOC130066697:ATAC-STARR-seq lymphoblastoid silent region 13332 [Gene]
  • LOC130066713:ATAC-STARR-seq lymphoblastoid silent region 13333 [Gene]
  • LOC130066719:ATAC-STARR-seq lymphoblastoid silent region 13335 [Gene]
  • LOC130066720:ATAC-STARR-seq lymphoblastoid silent region 13336 [Gene]
  • LOC130066721:ATAC-STARR-seq lymphoblastoid silent region 13337 [Gene]
  • LOC130066730:ATAC-STARR-seq lymphoblastoid silent region 13338 [Gene]
  • LOC130066733:ATAC-STARR-seq lymphoblastoid silent region 13339 [Gene]
  • LOC130066734:ATAC-STARR-seq lymphoblastoid silent region 13340 [Gene]
  • LOC130066737:ATAC-STARR-seq lymphoblastoid silent region 13341 [Gene]
  • LOC130066740:ATAC-STARR-seq lymphoblastoid silent region 13342 [Gene]
  • LOC130066743:ATAC-STARR-seq lymphoblastoid silent region 13343 [Gene]
  • LOC130066749:ATAC-STARR-seq lymphoblastoid silent region 13344 [Gene]
  • LOC130066750:ATAC-STARR-seq lymphoblastoid silent region 13345 [Gene]
  • LOC130066751:ATAC-STARR-seq lymphoblastoid silent region 13347 [Gene]
  • LOC130066752:ATAC-STARR-seq lymphoblastoid silent region 13348 [Gene]
  • LOC130066760:ATAC-STARR-seq lymphoblastoid silent region 13349 [Gene]
  • LOC130066765:ATAC-STARR-seq lymphoblastoid silent region 13353 [Gene]
  • LOC130066766:ATAC-STARR-seq lymphoblastoid silent region 13354 [Gene]
  • LOC130066767:ATAC-STARR-seq lymphoblastoid silent region 13355 [Gene]
  • LOC130066768:ATAC-STARR-seq lymphoblastoid silent region 13356 [Gene]
  • LOC130066769:ATAC-STARR-seq lymphoblastoid silent region 13357 [Gene]
  • LOC130066770:ATAC-STARR-seq lymphoblastoid silent region 13358 [Gene]
  • LOC130066774:ATAC-STARR-seq lymphoblastoid silent region 13359 [Gene]
  • LOC130066778:ATAC-STARR-seq lymphoblastoid silent region 13360 [Gene]
  • LOC130066779:ATAC-STARR-seq lymphoblastoid silent region 13361 [Gene]
  • LOC130066780:ATAC-STARR-seq lymphoblastoid silent region 13362 [Gene]
  • LOC130066783:ATAC-STARR-seq lymphoblastoid silent region 13363 [Gene]
  • LOC130066785:ATAC-STARR-seq lymphoblastoid silent region 13364 [Gene]
  • LOC130066786:ATAC-STARR-seq lymphoblastoid silent region 13365 [Gene]
  • LOC130066788:ATAC-STARR-seq lymphoblastoid silent region 13368 [Gene]
  • LOC130066789:ATAC-STARR-seq lymphoblastoid silent region 13369 [Gene]
  • LOC130066791:ATAC-STARR-seq lymphoblastoid silent region 13370 [Gene]
  • LOC130066796:ATAC-STARR-seq lymphoblastoid silent region 13371 [Gene]
  • LOC130066797:ATAC-STARR-seq lymphoblastoid silent region 13372 [Gene]
  • LOC130066798:ATAC-STARR-seq lymphoblastoid silent region 13373 [Gene]
  • LOC130066802:ATAC-STARR-seq lymphoblastoid silent region 13374 [Gene]
  • LOC130066804:ATAC-STARR-seq lymphoblastoid silent region 13375 [Gene]
  • LOC130066805:ATAC-STARR-seq lymphoblastoid silent region 13376 [Gene]
  • LOC130066806:ATAC-STARR-seq lymphoblastoid silent region 13377 [Gene]
  • LOC130066813:ATAC-STARR-seq lymphoblastoid silent region 13378 [Gene]
  • LOC130066817:ATAC-STARR-seq lymphoblastoid silent region 13379 [Gene]
  • LOC130066818:ATAC-STARR-seq lymphoblastoid silent region 13380 [Gene]
  • LOC130066820:ATAC-STARR-seq lymphoblastoid silent region 13381 [Gene]
  • LOC130066822:ATAC-STARR-seq lymphoblastoid silent region 13382 [Gene]
  • LOC130066823:ATAC-STARR-seq lymphoblastoid silent region 13383 [Gene]
  • LOC130066828:ATAC-STARR-seq lymphoblastoid silent region 13384 [Gene]
  • LOC130066830:ATAC-STARR-seq lymphoblastoid silent region 13385 [Gene]
  • LOC130066832:ATAC-STARR-seq lymphoblastoid silent region 13388 [Gene]
  • LOC130066833:ATAC-STARR-seq lymphoblastoid silent region 13389 [Gene]
  • LOC130066834:ATAC-STARR-seq lymphoblastoid silent region 13390 [Gene]
  • LOC130066835:ATAC-STARR-seq lymphoblastoid silent region 13391 [Gene]
  • LOC130066839:ATAC-STARR-seq lymphoblastoid silent region 13394 [Gene]
  • LOC130066840:ATAC-STARR-seq lymphoblastoid silent region 13395 [Gene]
  • LOC130066843:ATAC-STARR-seq lymphoblastoid silent region 13396 [Gene]
  • LOC130066846:ATAC-STARR-seq lymphoblastoid silent region 13398 [Gene]
  • LOC130066847:ATAC-STARR-seq lymphoblastoid silent region 13399 [Gene]
  • LOC130066848:ATAC-STARR-seq lymphoblastoid silent region 13400 [Gene]
  • LOC130066850:ATAC-STARR-seq lymphoblastoid silent region 13401 [Gene]
  • LOC130066853:ATAC-STARR-seq lymphoblastoid silent region 13402 [Gene]
  • LOC130066854:ATAC-STARR-seq lymphoblastoid silent region 13403 [Gene]
  • LOC130066855:ATAC-STARR-seq lymphoblastoid silent region 13405 [Gene]
  • LOC130066856:ATAC-STARR-seq lymphoblastoid silent region 13406 [Gene]
  • LOC130066857:ATAC-STARR-seq lymphoblastoid silent region 13407 [Gene]
  • LOC130066858:ATAC-STARR-seq lymphoblastoid silent region 13408 [Gene]
  • LOC130066859:ATAC-STARR-seq lymphoblastoid silent region 13409 [Gene]
  • LOC130066862:ATAC-STARR-seq lymphoblastoid silent region 13410 [Gene]
  • LOC130066863:ATAC-STARR-seq lymphoblastoid silent region 13411 [Gene]
  • LOC130066864:ATAC-STARR-seq lymphoblastoid silent region 13412 [Gene]
  • LOC130066868:ATAC-STARR-seq lymphoblastoid silent region 13413 [Gene]
  • LOC130066869:ATAC-STARR-seq lymphoblastoid silent region 13414 [Gene]
  • LOC130066870:ATAC-STARR-seq lymphoblastoid silent region 13416 [Gene]
  • LOC130066872:ATAC-STARR-seq lymphoblastoid silent region 13417 [Gene]
  • LOC130066873:ATAC-STARR-seq lymphoblastoid silent region 13418 [Gene]
  • LOC130066875:ATAC-STARR-seq lymphoblastoid silent region 13419 [Gene]
  • LOC130066876:ATAC-STARR-seq lymphoblastoid silent region 13420 [Gene]
  • LOC130066881:ATAC-STARR-seq lymphoblastoid silent region 13421 [Gene]
  • LOC130066882:ATAC-STARR-seq lymphoblastoid silent region 13422 [Gene]
  • LOC130066885:ATAC-STARR-seq lymphoblastoid silent region 13424 [Gene]
  • LOC130066886:ATAC-STARR-seq lymphoblastoid silent region 13425 [Gene]
  • ABCG1:ATP binding cassette subfamily G member 1 [Gene - OMIM - HGNC]
  • LOC126653376:BRD4-independent group 4 enhancer GRCh37_chr21:41709903-41711102 [Gene]
  • LOC126653378:BRD4-independent group 4 enhancer GRCh37_chr21:42308234-42309433 [Gene]
  • LOC126653379:BRD4-independent group 4 enhancer GRCh37_chr21:42424381-42425580 [Gene]
  • LOC126653382:BRD4-independent group 4 enhancer GRCh37_chr21:42931079-42932278 [Gene]
  • LOC126653384:BRD4-independent group 4 enhancer GRCh37_chr21:43042456-43043655 [Gene]
  • LOC126653388:BRD4-independent group 4 enhancer GRCh37_chr21:43814254-43815453 [Gene]
  • LOC126653396:BRD4-independent group 4 enhancer GRCh37_chr21:45895092-45896291 [Gene]
  • LOC126653400:BRD4-independent group 4 enhancer GRCh37_chr21:46470000-46471199 [Gene]
  • LOC126653402:BRD4-independent group 4 enhancer GRCh37_chr21:46785000-46786199 [Gene]
  • LOC126653404:BRD4-independent group 4 enhancer GRCh37_chr21:47278335-47279534 [Gene]
  • C2CD2:C2 calcium dependent domain containing 2 [Gene - OMIM - HGNC]
  • LOC126653377:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:41792223-41793422 [Gene]
  • LOC126653380:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42646500-42647699 [Gene]
  • LOC126653381:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42824122-42825321 [Gene]
  • LOC126653383:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:42952959-42954158 [Gene]
  • LOC126653385:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43241376-43242575 [Gene]
  • LOC126653386:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43274198-43275397 [Gene]
  • LOC126653391:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:43912470-43913669 [Gene]
  • LOC126088095:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45626388-45627587 [Gene]
  • LOC126653395:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45825427-45826626 [Gene]
  • LOC126653398:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45928270-45929469 [Gene]
  • LOC126653399:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:46347045-46348244 [Gene]
  • COL18A1-AS1:COL18A1 antisense RNA 1 [Gene - HGNC]
  • COL18A1-AS2:COL18A1 antisense RNA 2 [Gene - HGNC]
  • COL6A2-DT:COL6A2 divergent transcript [Gene - HGNC]
  • LOC128462416:CRISPRi-FlowFISH-validated ICOSLG and IFNGR2 regulatory element GRCh37_chr21:45660637-45661636 [Gene]
  • LOC128462414:CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45616066-45616566 to GRCh37_chr21:45616069-45616569 [Gene]
  • LOC128462415:CRISPRi-FlowFISH-validated ICOSLG regulatory elements GRCh37_chr21:45627759-45628259 and GRCh37_chr21:45627787-45628287 [Gene]
  • LOC116309124:CRISPRi-validated cis-regulatory element chr21.1179 [Gene]
  • LOC116309125:CRISPRi-validated cis-regulatory element chr21.1536 [Gene]
  • DIP2A-IT1:DIP2A intronic transcript 1 [Gene - HGNC]
  • DNMT3L:DNA methyltransferase 3 like [Gene - OMIM - HGNC]
  • DNMT3L-AS1:DNMT3L antisense RNA 1 [Gene - HGNC]
  • DSCAM:DS cell adhesion molecule [Gene - OMIM - HGNC]
  • DSCAM-AS1:DSCAM antisense RNA 1 [Gene - HGNC]
  • DSCAM-IT1:DSCAM intronic transcript 1 [Gene - HGNC]
  • LOC108281151:FAM207A intron CAGE-defined mid-level expression enhancer [Gene]
  • FAM3B:FAM3 metabolism regulating signaling molecule B [Gene - OMIM - HGNC]
  • FRGCA:FOXM1-regulated, gastric cancer associated [Gene - HGNC]
  • FTCD-AS1:FTCD antisense RNA 1 [Gene - HGNC]
  • H2BC12L:H2B clustered histone 12 like [Gene - HGNC]
  • ITGB2-AS1:ITGB2 antisense RNA 1 [Gene - HGNC]
  • LRRC3-DT:LRRC3 divergent transcript [Gene - HGNC]
  • MCM3AP-AS1:MCM3AP antisense RNA 1 [Gene - HGNC]
  • LOC126653387:MED14-independent group 3 enhancer GRCh37_chr21:43787692-43788891 [Gene]
  • LOC126653390:MED14-independent group 3 enhancer GRCh37_chr21:43887967-43889166 [Gene]
  • LOC126653394:MED14-independent group 3 enhancer GRCh37_chr21:44784578-44785777 [Gene]
  • LOC126653397:MED14-independent group 3 enhancer GRCh37_chr21:45912034-45913233 [Gene]
  • LOC126653401:MED14-independent group 3 enhancer GRCh37_chr21:46699476-46700675 [Gene]
  • LOC126653403:MED14-independent group 3 enhancer GRCh37_chr21:47053121-47054320 [Gene]
  • LOC129391248:MPRA-validated peak4415 silencer [Gene]
  • LOC129391249:MPRA-validated peak4418 silencer [Gene]
  • LOC129391250:MPRA-validated peak4419 silencer [Gene]
  • LOC129391251:MPRA-validated peak4424 silencer [Gene]
  • LOC129391252:MPRA-validated peak4426 silencer [Gene]
  • LOC129391253:MPRA-validated peak4427 silencer [Gene]
  • LOC129391254:MPRA-validated peak4431 silencer [Gene]
  • MX1:MX dynamin like GTPase 1 [Gene - OMIM - HGNC]
  • MX2:MX dynamin like GTPase 2 [Gene - OMIM - HGNC]
  • NDUFV3:NADH:ubiquinone oxidoreductase subunit V3 [Gene - OMIM - HGNC]
  • LOC132090618:Neanderthal introgressed variant-containing enhancer experimental_62106 [Gene]
  • LOC126653389:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:43834765-43835964 [Gene]
  • LOC126653392:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:44144061-44145260 [Gene]
  • LOC126653393:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:44726883-44728082 [Gene]
  • LOC125418085:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46431794-46432993 [Gene]
  • LOC112694752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:46783494-46784693 [Gene]
  • PICSAR:P38 inhibited cutaneous squamous cell carcinoma associated lincRNA [Gene - OMIM - HGNC]
  • PKNOX1:PBX/knotted 1 homeobox 1 [Gene - OMIM - HGNC]
  • PCBP3-AS1:PCBP3 antisense RNA 1 [Gene - HGNC]
  • PDE9A-AS1:PDE9A antisense RNA 1 [Gene - HGNC]
  • LOC108254685:PDXK-CSTB intergenic CAGE-defined low expression enhancer [Gene]
  • PRDM15:PR/SET domain 15 [Gene - OMIM - HGNC]
  • PTTG1IP:PTTG1 interacting protein [Gene - OMIM - HGNC]
  • PWP2:PWP2 small subunit processome component [Gene - OMIM - HGNC]
  • LOC108281139:RRP1B-PDXK intergenic CAGE-defined mid-level expression enhancer [Gene]
  • RSPH1-DT:RSPH1 divergent transcript [Gene - HGNC]
  • S100B:S100 calcium binding protein B [Gene - OMIM - HGNC]
  • LOC108251799:SIK1-LINC00319 intergenic CAGE-defined high expression enhancer [Gene]
  • SLX9:SLX9 ribosome biogenesis factor [Gene - HGNC]
  • LOC125418081:Sharpr-MPRA regulatory region 10850 [Gene]
  • LOC121853033:Sharpr-MPRA regulatory region 12001 [Gene]
  • LOC112694750:Sharpr-MPRA regulatory region 13752 [Gene]
  • LOC112694754:Sharpr-MPRA regulatory region 1466 [Gene]
  • LOC125418079:Sharpr-MPRA regulatory region 15309 [Gene]
  • LOC125418077:Sharpr-MPRA regulatory region 15350 [Gene]
  • LOC121627927:Sharpr-MPRA regulatory region 1559 [Gene]
  • LOC121853030:Sharpr-MPRA regulatory region 1599 [Gene]
  • LOC112694749:Sharpr-MPRA regulatory region 172 [Gene]
  • LOC125418084:Sharpr-MPRA regulatory region 2317 [Gene]
  • LOC121853032:Sharpr-MPRA regulatory region 2423 [Gene]
  • LOC121853031:Sharpr-MPRA regulatory region 2841 [Gene]
  • LOC125418076:Sharpr-MPRA regulatory region 2990 [Gene]
  • LOC125418080:Sharpr-MPRA regulatory region 3188 [Gene]
  • LOC125418088:Sharpr-MPRA regulatory region 3768 [Gene]
  • LOC125418082:Sharpr-MPRA regulatory region 3786 [Gene]
  • LOC112694753:Sharpr-MPRA regulatory region 3947 [Gene]
  • LOC121853034:Sharpr-MPRA regulatory region 4411 [Gene]
  • LOC121627926:Sharpr-MPRA regulatory region 4412 [Gene]
  • LOC121627925:Sharpr-MPRA regulatory region 5612 [Gene]
  • LOC125418083:Sharpr-MPRA regulatory region 676 [Gene]
  • LOC125418086:Sharpr-MPRA regulatory region 7423 [Gene]
  • LOC121627924:Sharpr-MPRA regulatory region 8078 [Gene]
  • LOC112694751:Sharpr-MPRA regulatory region 850 [Gene]
  • LOC125418087:Sharpr-MPRA regulatory region 9072 [Gene]
  • LOC114004360:Sharpr-MPRA regulatory region 9314 [Gene]
  • LOC125418078:Sharpr-MPRA regulatory region 958 [Gene]
  • LOC121853021:Sharpr-MPRA regulatory region 9823 [Gene]
  • LOC117134611:TMPRSS2 -17 kb enhancer [Gene]
  • LOC117135104:TMPRSS2 E3 enhancer [Gene]
  • LOC117135105:TMPRSS2 E4 enhancer [Gene]
  • LOC117134608:TMPRSS2 androgen receptor-responsive -13 kb enhancer [Gene]
  • LOC117135106:TMPRSS2 androgen receptor-responsive -60 kb enhancer [Gene]
  • LOC117134604:TMPRSS2 promoter region [Gene]
  • LOC117134605:TMPRSS2 repressive element NBS1 [Gene]
  • LOC117134606:TMPRSS2 repressive element NBS2 [Gene]
  • LOC117134607:TMPRSS2 repressive element NBS4 [Gene]
  • TRPM2-AS:TRPM2 antisense RNA [Gene - HGNC]
  • TSPEAR-AS1:TSPEAR antisense RNA 1 [Gene - HGNC]
  • TSPEAR-AS2:TSPEAR antisense RNA 2 [Gene - HGNC]
  • U2AF1:U2 small nuclear RNA auxiliary factor 1 [Gene - OMIM - HGNC]
  • UMODL1-AS1:UMODL1 antisense RNA 1 [Gene - HGNC]
  • LOC110121500:VISTA enhancer hs2248 [Gene]
  • WDR4:WD repeat domain 4 [Gene - OMIM - HGNC]
  • ZNF295-AS1:ZNF295 antisense RNA 1 [Gene - HGNC]
  • ADARB1:adenosine deaminase RNA specific B1 [Gene - OMIM - HGNC]
  • AATBC:apoptosis associated transcript in bladder cancer [Gene - HGNC]
  • AIRE:autoimmune regulator [Gene - OMIM - HGNC]
  • BACE2:beta-secretase 2 [Gene - OMIM - HGNC]
  • BNAT1:breast cancer associated ESR1 regulating natural antisense transcript 1 [Gene - HGNC]
  • C21orf58:chromosome 21 open reading frame 58 [Gene - HGNC]
  • CFAP410:cilia and flagella associated protein 410 [Gene - OMIM - HGNC]
  • COL6A1:collagen type VI alpha 1 chain [Gene - OMIM - HGNC]
  • COL6A2:collagen type VI alpha 2 chain [Gene - OMIM - HGNC]
  • COL18A1:collagen type XVIII alpha 1 chain [Gene - OMIM - HGNC]
  • CRYAA:crystallin alpha A [Gene - OMIM - HGNC]
  • CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
  • LOC109029533:cystatin B upstream repeat instability region [Gene]
  • CSTB:cystatin B [Gene - OMIM - HGNC]
  • DIP2A:disco interacting protein 2 homolog A [Gene - OMIM - HGNC]
  • ERVH48-1:endogenous retrovirus group 48 member 1, envelope [Gene - HGNC]
  • FTCD:formimidoyltransferase cyclodeaminase [Gene - OMIM - HGNC]
  • GATD3:glutamine amidotransferase class 1 domain containing 3 [Gene - OMIM - HGNC]
  • HSF2BP:heat shock transcription factor 2 binding protein [Gene - OMIM - HGNC]
  • ICOSLG:inducible T cell costimulator ligand [Gene - OMIM - HGNC]
  • ITGB2:integrin subunit beta 2 [Gene - OMIM - HGNC]
  • KRTAP10-10:keratin associated protein 10-10 [Gene - HGNC]
  • KRTAP10-11:keratin associated protein 10-11 [Gene - HGNC]
  • KRTAP10-12:keratin associated protein 10-12 [Gene - HGNC]
  • KRTAP10-1:keratin associated protein 10-1 [Gene - HGNC]
  • KRTAP10-2:keratin associated protein 10-2 [Gene - HGNC]
  • KRTAP10-3:keratin associated protein 10-3 [Gene - HGNC]
  • KRTAP10-4:keratin associated protein 10-4 [Gene - HGNC]
  • KRTAP10-5:keratin associated protein 10-5 [Gene - HGNC]
  • KRTAP10-6:keratin associated protein 10-6 [Gene - HGNC]
  • KRTAP10-7:keratin associated protein 10-7 [Gene - HGNC]
  • KRTAP10-8:keratin associated protein 10-8 [Gene - HGNC]
  • KRTAP10-9:keratin associated protein 10-9 [Gene - HGNC]
  • KRTAP12-1:keratin associated protein 12-1 [Gene - HGNC]
  • KRTAP12-2:keratin associated protein 12-2 [Gene - HGNC]
  • KRTAP12-3:keratin associated protein 12-3 [Gene - HGNC]
  • KRTAP12-4:keratin associated protein 12-4 [Gene - HGNC]
  • LSS:lanosterol synthase [Gene - OMIM - HGNC]
  • LRRC3:leucine rich repeat containing 3 [Gene - OMIM - HGNC]
  • LINC00111:long intergenic non-protein coding RNA 111 [Gene - HGNC]
  • LINC00112:long intergenic non-protein coding RNA 112 [Gene - HGNC]
  • LINC01424:long intergenic non-protein coding RNA 1424 [Gene - HGNC]
  • LINC01547:long intergenic non-protein coding RNA 1547 [Gene - HGNC]
  • LINC00163:long intergenic non-protein coding RNA 163 [Gene - OMIM - HGNC]
  • LINC00165:long intergenic non-protein coding RNA 165 [Gene - HGNC]
  • LINC01668:long intergenic non-protein coding RNA 1668 [Gene - HGNC]
  • LINC01671:long intergenic non-protein coding RNA 1671 [Gene - HGNC]
  • LINC01678:long intergenic non-protein coding RNA 1678 [Gene - HGNC]
  • LINC01679:long intergenic non-protein coding RNA 1679 [Gene - HGNC]
  • LINC01694:long intergenic non-protein coding RNA 1694 [Gene - HGNC]
  • LINC00205:long intergenic non-protein coding RNA 205 [Gene - HGNC]
  • LINC02575:long intergenic non-protein coding RNA 2575 [Gene - HGNC]
  • LINC03039:long intergenic non-protein coding RNA 3039 [Gene - HGNC]
  • LINC00313:long intergenic non-protein coding RNA 313 [Gene - HGNC]
  • LINC00315:long intergenic non-protein coding RNA 315 [Gene - HGNC]
  • LINC00316:long intergenic non-protein coding RNA 316 [Gene - HGNC]
  • LINC00319:long intergenic non-protein coding RNA 319 [Gene - HGNC]
  • LINC00322:long intergenic non-protein coding RNA 322 [Gene - HGNC]
  • LINC00323:long intergenic non-protein coding RNA 323 [Gene - HGNC]
  • LINC00334:long intergenic non-protein coding RNA 334 [Gene - HGNC]
  • LINC00479:long intergenic non-protein coding RNA 479 [Gene - HGNC]
  • LOC128772427:melanoma risk locus-associated MPRA allelic enhancer 21:42745414 [Gene]
  • LOC128849172:melanoma risk locus-associated MPRA allelic enhancers 21:42746568 and 21:42746578 [Gene]
  • MIR3197:microRNA 3197 [Gene - HGNC]
  • MIR5692B:microRNA 5692b [Gene - HGNC]
  • MIR6070:microRNA 6070 [Gene - HGNC]
  • MIR6814:microRNA 6814 [Gene - HGNC]
  • MIR6815:microRNA 6815 [Gene - HGNC]
  • MCM3AP:minichromosome maintenance complex component 3 associated protein [Gene - OMIM - HGNC]
  • PCNT:pericentrin [Gene - OMIM - HGNC]
  • PDE9A:phosphodiesterase 9A [Gene - OMIM - HGNC]
  • PFKL:phosphofructokinase, liver type [Gene - OMIM - HGNC]
  • PLAC4:placenta enriched 4 [Gene - OMIM - HGNC]
  • PCBP3:poly(rC) binding protein 3 [Gene - OMIM - HGNC]
  • PCSEAT:prostate cancer expressed EZH2 associated transcript [Gene - HGNC]
  • POFUT2:protein O-fucosyltransferase 2 [Gene - OMIM - HGNC]
  • PRMT2:protein arginine methyltransferase 2 [Gene - OMIM - HGNC]
  • PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
  • RSPH1:radial spoke head component 1 [Gene - OMIM - HGNC]
  • RIPK4:receptor interacting serine/threonine kinase 4 [Gene - OMIM - HGNC]
  • RRP1:ribosomal RNA processing 1 [Gene - OMIM - HGNC]
  • RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]
  • SIK1:salt inducible kinase 1 [Gene - OMIM - HGNC]
  • SNORD159:small nucleolar RNA, C/D box 159 [Gene - HGNC]
  • SNORA91:small nucleolar RNA, H/ACA box 91 [Gene - HGNC]
  • SUMO3:small ubiquitin like modifier 3 [Gene - OMIM - HGNC]
  • SLC19A1:solute carrier family 19 member 1 [Gene - OMIM - HGNC]
  • SLC37A1:solute carrier family 37 member 1 [Gene - OMIM - HGNC]
  • SPATC1L:spermatogenesis and centriole associated 1 like [Gene - OMIM - HGNC]
  • TSPEAR:thrombospondin type laminin G domain and EAR repeats [Gene - OMIM - HGNC]
  • TRAPPC10:trafficking protein particle complex subunit 10 [Gene - OMIM - HGNC]
  • TRPM2:transient receptor potential cation channel subfamily M member 2 [Gene - OMIM - HGNC]
  • LOC111099027:transmembrane protease serine 2 breakpoint cluster recombination region [Gene]
  • TMPRSS2:transmembrane serine protease 2 [Gene - OMIM - HGNC]
  • TMPRSS3:transmembrane serine protease 3 [Gene - OMIM - HGNC]
  • TFF1:trefoil factor 1 [Gene - OMIM - HGNC]
  • TFF2:trefoil factor 2 [Gene - OMIM - HGNC]
  • TFF3:trefoil factor 3 [Gene - OMIM - HGNC]
  • UBASH3A:ubiquitin associated and SH3 domain containing A [Gene - OMIM - HGNC]
  • UBE2G2:ubiquitin conjugating enzyme E2 G2 [Gene - OMIM - HGNC]
  • LOC101928212:uncharacterized LOC101928212 [Gene]
  • LOC101928796:uncharacterized LOC101928796 [Gene]
  • LOC105372832:uncharacterized LOC105372832 [Gene]
  • LOC128092249:uncharacterized LOC128092249 [Gene]
  • UMODL1:uromodulin like 1 [Gene - OMIM - HGNC]
  • YBEY:ybeY metalloendoribonuclease [Gene - OMIM - HGNC]
  • ZBTB21:zinc finger and BTB domain containing 21 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
21q22.2-22.3
Genomic location:
Preferred name:
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1
HGVS:
  • NC_000021.9:g.(?_40296025)_(46670440_?)del
  • NC_000021.7:g.(?_40589822)_(46914780_?)del
  • NC_000021.8:g.(?_41667952)_(48090352_?)del
Links:
dbVar: nssv1603811; dbVar: nsv916537
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
SCV000179655ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Sep 21, 2012) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 4, SCV000179655.3

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

Last Updated: Oct 14, 2023