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GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 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:
RCV000054173.5

Allele description [Variation Report for GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1]

GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1

Genes:
  • AGK-DT:AGK divergent transcript [Gene - HGNC]
  • LOC129999425:ATAC-STARR-seq lymphoblastoid active region 26718 [Gene]
  • LOC129999426:ATAC-STARR-seq lymphoblastoid active region 26719 [Gene]
  • LOC129999427:ATAC-STARR-seq lymphoblastoid active region 26720 [Gene]
  • LOC129999428:ATAC-STARR-seq lymphoblastoid active region 26721 [Gene]
  • LOC129999433:ATAC-STARR-seq lymphoblastoid active region 26722 [Gene]
  • LOC129999434:ATAC-STARR-seq lymphoblastoid active region 26723 [Gene]
  • LOC129999435:ATAC-STARR-seq lymphoblastoid active region 26724 [Gene]
  • LOC129999436:ATAC-STARR-seq lymphoblastoid active region 26725 [Gene]
  • LOC129999437:ATAC-STARR-seq lymphoblastoid active region 26726 [Gene]
  • LOC129999439:ATAC-STARR-seq lymphoblastoid active region 26727 [Gene]
  • LOC129999440:ATAC-STARR-seq lymphoblastoid active region 26728 [Gene]
  • LOC129999441:ATAC-STARR-seq lymphoblastoid active region 26730 [Gene]
  • LOC129999442:ATAC-STARR-seq lymphoblastoid active region 26731 [Gene]
  • LOC129999443:ATAC-STARR-seq lymphoblastoid active region 26732 [Gene]
  • LOC129999444:ATAC-STARR-seq lymphoblastoid active region 26733 [Gene]
  • LOC129999445:ATAC-STARR-seq lymphoblastoid active region 26734 [Gene]
  • LOC129999446:ATAC-STARR-seq lymphoblastoid active region 26735 [Gene]
  • LOC129999447:ATAC-STARR-seq lymphoblastoid active region 26736 [Gene]
  • LOC129999448:ATAC-STARR-seq lymphoblastoid active region 26740 [Gene]
  • LOC129999449:ATAC-STARR-seq lymphoblastoid active region 26741 [Gene]
  • LOC129999450:ATAC-STARR-seq lymphoblastoid active region 26742 [Gene]
  • LOC129999453:ATAC-STARR-seq lymphoblastoid active region 26743 [Gene]
  • LOC129999454:ATAC-STARR-seq lymphoblastoid active region 26744 [Gene]
  • LOC129999457:ATAC-STARR-seq lymphoblastoid active region 26745 [Gene]
  • LOC129999458:ATAC-STARR-seq lymphoblastoid active region 26746 [Gene]
  • LOC129999459:ATAC-STARR-seq lymphoblastoid active region 26749 [Gene]
  • LOC129999460:ATAC-STARR-seq lymphoblastoid active region 26750 [Gene]
  • LOC129999461:ATAC-STARR-seq lymphoblastoid active region 26751 [Gene]
  • LOC129999462:ATAC-STARR-seq lymphoblastoid active region 26753 [Gene]
  • LOC129999463:ATAC-STARR-seq lymphoblastoid active region 26754 [Gene]
  • LOC129999465:ATAC-STARR-seq lymphoblastoid active region 26755 [Gene]
  • LOC129999466:ATAC-STARR-seq lymphoblastoid active region 26756 [Gene]
  • LOC129999467:ATAC-STARR-seq lymphoblastoid active region 26757 [Gene]
  • LOC129999468:ATAC-STARR-seq lymphoblastoid active region 26759 [Gene]
  • LOC129999469:ATAC-STARR-seq lymphoblastoid active region 26760 [Gene]
  • LOC129999471:ATAC-STARR-seq lymphoblastoid active region 26761 [Gene]
  • LOC129999474:ATAC-STARR-seq lymphoblastoid active region 26762 [Gene]
  • LOC129999475:ATAC-STARR-seq lymphoblastoid active region 26763 [Gene]
  • LOC129999476:ATAC-STARR-seq lymphoblastoid active region 26764 [Gene]
  • LOC129999477:ATAC-STARR-seq lymphoblastoid active region 26765 [Gene]
  • LOC129999478:ATAC-STARR-seq lymphoblastoid active region 26766 [Gene]
  • LOC129999480:ATAC-STARR-seq lymphoblastoid active region 26767 [Gene]
  • LOC129999481:ATAC-STARR-seq lymphoblastoid active region 26768 [Gene]
  • LOC129999482:ATAC-STARR-seq lymphoblastoid active region 26769 [Gene]
  • LOC129999485:ATAC-STARR-seq lymphoblastoid active region 26770 [Gene]
  • LOC129999486:ATAC-STARR-seq lymphoblastoid active region 26772 [Gene]
  • LOC129999489:ATAC-STARR-seq lymphoblastoid active region 26773 [Gene]
  • LOC129999492:ATAC-STARR-seq lymphoblastoid active region 26774 [Gene]
  • LOC129999496:ATAC-STARR-seq lymphoblastoid active region 26776 [Gene]
  • LOC129999497:ATAC-STARR-seq lymphoblastoid active region 26777 [Gene]
  • LOC129999498:ATAC-STARR-seq lymphoblastoid active region 26778 [Gene]
  • LOC129999499:ATAC-STARR-seq lymphoblastoid active region 26779 [Gene]
  • LOC129999502:ATAC-STARR-seq lymphoblastoid active region 26781 [Gene]
  • LOC129999503:ATAC-STARR-seq lymphoblastoid active region 26782 [Gene]
  • LOC129999505:ATAC-STARR-seq lymphoblastoid active region 26783 [Gene]
  • LOC129999506:ATAC-STARR-seq lymphoblastoid active region 26784 [Gene]
  • LOC129999508:ATAC-STARR-seq lymphoblastoid active region 26785 [Gene]
  • LOC129999509:ATAC-STARR-seq lymphoblastoid active region 26787 [Gene]
  • LOC129999510:ATAC-STARR-seq lymphoblastoid active region 26788 [Gene]
  • LOC129999513:ATAC-STARR-seq lymphoblastoid active region 26790 [Gene]
  • LOC129999517:ATAC-STARR-seq lymphoblastoid active region 26792 [Gene]
  • LOC129999522:ATAC-STARR-seq lymphoblastoid active region 26794 [Gene]
  • LOC129999523:ATAC-STARR-seq lymphoblastoid active region 26795 [Gene]
  • LOC129999429:ATAC-STARR-seq lymphoblastoid silent region 18680 [Gene]
  • LOC129999430:ATAC-STARR-seq lymphoblastoid silent region 18681 [Gene]
  • LOC129999431:ATAC-STARR-seq lymphoblastoid silent region 18682 [Gene]
  • LOC129999432:ATAC-STARR-seq lymphoblastoid silent region 18683 [Gene]
  • LOC129999438:ATAC-STARR-seq lymphoblastoid silent region 18684 [Gene]
  • LOC129999451:ATAC-STARR-seq lymphoblastoid silent region 18686 [Gene]
  • LOC129999452:ATAC-STARR-seq lymphoblastoid silent region 18687 [Gene]
  • LOC129999455:ATAC-STARR-seq lymphoblastoid silent region 18689 [Gene]
  • LOC129999456:ATAC-STARR-seq lymphoblastoid silent region 18690 [Gene]
  • LOC129999464:ATAC-STARR-seq lymphoblastoid silent region 18693 [Gene]
  • LOC129999470:ATAC-STARR-seq lymphoblastoid silent region 18695 [Gene]
  • LOC129999472:ATAC-STARR-seq lymphoblastoid silent region 18696 [Gene]
  • LOC129999473:ATAC-STARR-seq lymphoblastoid silent region 18697 [Gene]
  • LOC129999479:ATAC-STARR-seq lymphoblastoid silent region 18698 [Gene]
  • LOC129999483:ATAC-STARR-seq lymphoblastoid silent region 18699 [Gene]
  • LOC129999484:ATAC-STARR-seq lymphoblastoid silent region 18700 [Gene]
  • LOC129999487:ATAC-STARR-seq lymphoblastoid silent region 18701 [Gene]
  • LOC129999488:ATAC-STARR-seq lymphoblastoid silent region 18702 [Gene]
  • LOC129999490:ATAC-STARR-seq lymphoblastoid silent region 18703 [Gene]
  • LOC129999491:ATAC-STARR-seq lymphoblastoid silent region 18704 [Gene]
  • LOC129999493:ATAC-STARR-seq lymphoblastoid silent region 18707 [Gene]
  • LOC129999494:ATAC-STARR-seq lymphoblastoid silent region 18708 [Gene]
  • LOC129999495:ATAC-STARR-seq lymphoblastoid silent region 18709 [Gene]
  • LOC129999500:ATAC-STARR-seq lymphoblastoid silent region 18710 [Gene]
  • LOC129999501:ATAC-STARR-seq lymphoblastoid silent region 18711 [Gene]
  • LOC129999504:ATAC-STARR-seq lymphoblastoid silent region 18715 [Gene]
  • LOC129999507:ATAC-STARR-seq lymphoblastoid silent region 18716 [Gene]
  • LOC129999511:ATAC-STARR-seq lymphoblastoid silent region 18717 [Gene]
  • LOC129999512:ATAC-STARR-seq lymphoblastoid silent region 18718 [Gene]
  • LOC129999514:ATAC-STARR-seq lymphoblastoid silent region 18719 [Gene]
  • LOC129999515:ATAC-STARR-seq lymphoblastoid silent region 18720 [Gene]
  • LOC129999516:ATAC-STARR-seq lymphoblastoid silent region 18721 [Gene]
  • LOC129999518:ATAC-STARR-seq lymphoblastoid silent region 18724 [Gene]
  • LOC129999519:ATAC-STARR-seq lymphoblastoid silent region 18725 [Gene]
  • LOC129999520:ATAC-STARR-seq lymphoblastoid silent region 18726 [Gene]
  • LOC129999521:ATAC-STARR-seq lymphoblastoid silent region 18727 [Gene]
  • LOC129999524:ATAC-STARR-seq lymphoblastoid silent region 18728 [Gene]
  • ATP6V0A4:ATPase H+ transporting V0 subunit a4 [Gene - OMIM - HGNC]
  • BRAF:B-Raf proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • LOC126860198:BRD4-independent group 4 enhancer GRCh37_chr7:139365244-139366443 [Gene]
  • LOC126860202:BRD4-independent group 4 enhancer GRCh37_chr7:140493623-140494822 [Gene]
  • LOC126860203:BRD4-independent group 4 enhancer GRCh37_chr7:140858131-140859330 [Gene]
  • LOC126860206:BRD4-independent group 4 enhancer GRCh37_chr7:141895891-141897090 [Gene]
  • LOC126860207:BRD4-independent group 4 enhancer GRCh37_chr7:141945363-141946562 [Gene]
  • CLEC5A:C-type lectin domain containing 5A [Gene - OMIM - HGNC]
  • CLEC2L:C-type lectin domain family 2 member L [Gene - HGNC]
  • CNOT4:CCR4-NOT transcription complex subunit 4 [Gene - OMIM - HGNC]
  • LOC126860199:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:139528736-139529935 [Gene]
  • LOC126860200:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:139613504-139614703 [Gene]
  • LOC126860205:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:141645256-141646455 [Gene]
  • LOC126860208:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:142190619-142191818 [Gene]
  • LOC126860209:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:142745637-142746836 [Gene]
  • CREB3L2-AS1:CREB3L2 antisense RNA 1 [Gene - HGNC]
  • LOC116186913:CRISPRi-validated cis-regulatory element chr7.4907 [Gene]
  • LOC116186914:CRISPRi-validated cis-regulatory element chr7.5162 [Gene]
  • LOC116186916:CRISPRi-validated cis-regulatory element chr7.5168 [Gene]
  • LOC116186917:CRISPRi-validated cis-regulatory element chr7.5193 [Gene]
  • CTAGE15:CTAGE family member 15 [Gene - HGNC]
  • CTAGE6:CTAGE family member 6 [Gene - HGNC]
  • DENND11:DENN domain containing 11 [Gene - OMIM - HGNC]
  • DENND2A:DENN domain containing 2A [Gene - OMIM - HGNC]
  • EPHA1:EPH receptor A1 [Gene - OMIM - HGNC]
  • EPHB6:EPH receptor B6 [Gene - OMIM - HGNC]
  • EPHA1-AS1:EPHA1 antisense RNA 1 [Gene - HGNC]
  • FAM131B-AS1:FAM131B antisense RNA 1 [Gene - HGNC]
  • FAM131B-AS2:FAM131B antisense RNA 2 [Gene - HGNC]
  • FMC1-LUC7L2:FMC1-LUC7L2 readthrough [Gene - HGNC]
  • HERV.E-PTN:HERV.E-PTN promoter [Gene]
  • KDM7A-DT:KDM7A divergent transcript [Gene - HGNC]
  • KIAA1549:KIAA1549 [Gene - OMIM - HGNC]
  • KEL:Kell metallo-endopeptidase (Kell blood group) [Gene - OMIM - HGNC]
  • LLCFC1:LLLL and CFNLAS motif containing 1 [Gene - OMIM - HGNC]
  • LUC7L2:LUC7 like 2, pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • LOC126860193:MED14-independent group 3 enhancer GRCh37_chr7:137275817-137277016 [Gene]
  • LOC126860195:MED14-independent group 3 enhancer GRCh37_chr7:137715986-137717185 [Gene]
  • LOC126860196:MED14-independent group 3 enhancer GRCh37_chr7:137848561-137849760 [Gene]
  • LOC126860197:MED14-independent group 3 enhancer GRCh37_chr7:138992956-138994155 [Gene]
  • LOC126860204:MED14-independent group 3 enhancer GRCh37_chr7:141181561-141182760 [Gene]
  • LOC126860210:MED14-independent group 3 enhancer GRCh37_chr7:142982077-142983276 [Gene]
  • LOC129389873:MPRA-validated peak6752 silencer [Gene]
  • LOC129389874:MPRA-validated peak6754 silencer [Gene]
  • LOC129389875:MPRA-validated peak6755 silencer [Gene]
  • LOC129389876:MPRA-validated peak6756 silencer [Gene]
  • LOC129389877:MPRA-validated peak6757 silencer [Gene]
  • LOC129389878:MPRA-validated peak6758 silencer [Gene]
  • LOC129389879:MPRA-validated peak6760 silencer [Gene]
  • LOC129389880:MPRA-validated peak6762 silencer [Gene]
  • LOC129389881:MPRA-validated peak6764 silencer [Gene]
  • LOC129389882:MPRA-validated peak6765 silencer [Gene]
  • LOC129389883:MPRA-validated peak6766 silencer [Gene]
  • LOC129389884:MPRA-validated peak6770 silencer [Gene]
  • LOC129389885:MPRA-validated peak6771 silencer [Gene]
  • LOC129389886:MPRA-validated peak6772 silencer [Gene]
  • LOC129389887:MPRA-validated peak6775 silencer [Gene]
  • LOC129389888:MPRA-validated peak6776 silencer [Gene]
  • LOC129389889:MPRA-validated peak6777 silencer [Gene]
  • LOC129389890:MPRA-validated peak6781 silencer [Gene]
  • LOC129389891:MPRA-validated peak6784 silencer [Gene]
  • LOC129389892:MPRA-validated peak6785 silencer [Gene]
  • LOC129389893:MPRA-validated peak6786 silencer [Gene]
  • LOC129389894:MPRA-validated peak6788 silencer [Gene]
  • LOC129389895:MPRA-validated peak6789 silencer [Gene]
  • LOC129389896:MPRA-validated peak6790 silencer [Gene]
  • LOC129389897:MPRA-validated peak6791 silencer [Gene]
  • LOC129389898:MPRA-validated peak6792 silencer [Gene]
  • LOC129389899:MPRA-validated peak6793 silencer [Gene]
  • LOC129389900:MPRA-validated peak6794 silencer [Gene]
  • LOC129389901:MPRA-validated peak6797 silencer [Gene]
  • LOC129389902:MPRA-validated peak6798 silencer [Gene]
  • LOC129389903:MPRA-validated peak6800 silencer [Gene]
  • LOC129389904:MPRA-validated peak6801 silencer [Gene]
  • LOC129389905:MPRA-validated peak6804 silencer [Gene]
  • LOC129389906:MPRA-validated peak6806 silencer [Gene]
  • LOC129389907:MPRA-validated peak6807 silencer [Gene]
  • LOC129389908:MPRA-validated peak6808 silencer [Gene]
  • LOC129389909:MPRA-validated peak6810 silencer [Gene]
  • MTRNR2L6:MT-RNR2 like 6 [Gene - HGNC]
  • NDUFB2:NADH:ubiquinone oxidoreductase subunit B2 [Gene - OMIM - HGNC]
  • NDUFB2-AS1:NDUFB2 antisense RNA 1 [Gene - HGNC]
  • LOC132089515:Neanderthal introgressed variant-containing enhancer experimental_97737 [Gene]
  • LOC132089516:Neanderthal introgressed variant-containing enhancer experimental_97763 [Gene]
  • LOC126860192:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:135429999-135431198 [Gene]
  • LOC126860194:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:137558107-137559306 [Gene]
  • LOC126860201:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:139615605-139616804 [Gene]
  • LOC116186915:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:142506073-142507272 [Gene]
  • LOC126860211:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:143169186-143170385 [Gene]
  • RAB19:RAB19, member RAS oncogene family [Gene - HGNC]
  • SVOPL:SVOP like [Gene - OMIM - HGNC]
  • LOC121201616:Sharpr-MPRA regulatory region 10434 [Gene]
  • LOC123956240:Sharpr-MPRA regulatory region 10989 [Gene]
  • LOC123956253:Sharpr-MPRA regulatory region 11750 [Gene]
  • LOC121740701:Sharpr-MPRA regulatory region 12322 [Gene]
  • LOC121740700:Sharpr-MPRA regulatory region 12471 [Gene]
  • LOC123956241:Sharpr-MPRA regulatory region 1249 [Gene]
  • LOC123956246:Sharpr-MPRA regulatory region 12519 [Gene]
  • LOC123956239:Sharpr-MPRA regulatory region 12555 [Gene]
  • LOC123956248:Sharpr-MPRA regulatory region 12666 [Gene]
  • LOC123956260:Sharpr-MPRA regulatory region 13026 [Gene]
  • LOC123956234:Sharpr-MPRA regulatory region 13047 [Gene]
  • LOC121175371:Sharpr-MPRA regulatory region 13285 [Gene]
  • LOC123956255:Sharpr-MPRA regulatory region 15349 [Gene]
  • LOC121201615:Sharpr-MPRA regulatory region 1556/5446 [Gene]
  • LOC123956233:Sharpr-MPRA regulatory region 15617 [Gene]
  • LOC123956236:Sharpr-MPRA regulatory region 2088 [Gene]
  • LOC123956250:Sharpr-MPRA regulatory region 2153 [Gene]
  • LOC123956258:Sharpr-MPRA regulatory region 2529 [Gene]
  • LOC121201614:Sharpr-MPRA regulatory region 3006 [Gene]
  • LOC123956254:Sharpr-MPRA regulatory region 352 [Gene]
  • LOC123956244:Sharpr-MPRA regulatory region 4033 [Gene]
  • LOC123956257:Sharpr-MPRA regulatory region 4117 [Gene]
  • LOC123956232:Sharpr-MPRA regulatory region 4311 [Gene]
  • LOC123956238:Sharpr-MPRA regulatory region 5293 [Gene]
  • LOC123956231:Sharpr-MPRA regulatory region 5720 [Gene]
  • LOC113687198:Sharpr-MPRA regulatory region 5784 [Gene]
  • LOC123956242:Sharpr-MPRA regulatory region 5807 [Gene]
  • LOC123956245:Sharpr-MPRA regulatory region 6205 [Gene]
  • LOC123956259:Sharpr-MPRA regulatory region 6558 [Gene]
  • LOC123956235:Sharpr-MPRA regulatory region 739 [Gene]
  • LOC113687200:Sharpr-MPRA regulatory region 7901 [Gene]
  • LOC123956243:Sharpr-MPRA regulatory region 8027 [Gene]
  • LOC113687197:Sharpr-MPRA regulatory region 8039 [Gene]
  • LOC123956237:Sharpr-MPRA regulatory region 8296 [Gene]
  • LOC113687196:Sharpr-MPRA regulatory region 8802 [Gene]
  • LOC123956249:Sharpr-MPRA regulatory region 9531 [Gene]
  • LOC113687199:Sharpr-MPRA regulatory region 9540 [Gene]
  • LOC123956247:Sharpr-MPRA regulatory region 991 [Gene]
  • TRBC1:T cell receptor beta constant 1 [Gene - OMIM - HGNC]
  • TRBC2:T cell receptor beta constant 2 [Gene - OMIM - HGNC]
  • TRBD1:T cell receptor beta diversity 1 [Gene - OMIM - HGNC]
  • TRBD2:T cell receptor beta diversity 2 [Gene - OMIM - HGNC]
  • TRBJ1-1:T cell receptor beta joining 1-1 [Gene - HGNC]
  • TRBJ1-2:T cell receptor beta joining 1-2 [Gene - HGNC]
  • TRBJ1-3:T cell receptor beta joining 1-3 [Gene - HGNC]
  • TRBJ1-4:T cell receptor beta joining 1-4 [Gene - HGNC]
  • TRBJ1-5:T cell receptor beta joining 1-5 [Gene - HGNC]
  • TRBJ1-6:T cell receptor beta joining 1-6 [Gene - HGNC]
  • TRBJ2-1:T cell receptor beta joining 2-1 [Gene - HGNC]
  • TRBJ2-2:T cell receptor beta joining 2-2 [Gene - HGNC]
  • TRBJ2-3:T cell receptor beta joining 2-3 [Gene - HGNC]
  • TRBJ2-4:T cell receptor beta joining 2-4 [Gene - HGNC]
  • TRBJ2-5:T cell receptor beta joining 2-5 [Gene - HGNC]
  • TRBJ2-6:T cell receptor beta joining 2-6 [Gene - HGNC]
  • TRBJ2-7:T cell receptor beta joining 2-7 [Gene - HGNC]
  • TRB:T cell receptor beta locus [Gene - HGNC]
  • TRBV10-1:T cell receptor beta variable 10-1 [Gene - HGNC]
  • TRBV10-2:T cell receptor beta variable 10-2 [Gene - HGNC]
  • TRBV10-3:T cell receptor beta variable 10-3 [Gene - HGNC]
  • TRBV11-1:T cell receptor beta variable 11-1 [Gene - HGNC]
  • TRBV11-2:T cell receptor beta variable 11-2 [Gene - HGNC]
  • TRBV11-3:T cell receptor beta variable 11-3 [Gene - HGNC]
  • TRBV12-3:T cell receptor beta variable 12-3 [Gene - HGNC]
  • TRBV12-4:T cell receptor beta variable 12-4 [Gene - HGNC]
  • TRBV12-5:T cell receptor beta variable 12-5 [Gene - HGNC]
  • TRBV13:T cell receptor beta variable 13 [Gene - HGNC]
  • TRBV14:T cell receptor beta variable 14 [Gene - HGNC]
  • TRBV15:T cell receptor beta variable 15 [Gene - HGNC]
  • TRBV17:T cell receptor beta variable 17 (non-functional) [Gene - HGNC]
  • TRBV18:T cell receptor beta variable 18 [Gene - HGNC]
  • TRBV19:T cell receptor beta variable 19 [Gene - HGNC]
  • TRBV20-1:T cell receptor beta variable 20-1 [Gene - HGNC]
  • TRBV24-1:T cell receptor beta variable 24-1 [Gene - HGNC]
  • TRBV25-1:T cell receptor beta variable 25-1 [Gene - HGNC]
  • TRBV27:T cell receptor beta variable 27 [Gene - HGNC]
  • TRBV28:T cell receptor beta variable 28 [Gene - HGNC]
  • TRBV29-1:T cell receptor beta variable 29-1 [Gene - HGNC]
  • TRBV2:T cell receptor beta variable 2 [Gene - HGNC]
  • TRBV3-1:T cell receptor beta variable 3-1 [Gene - HGNC]
  • TRBV30:T cell receptor beta variable 30 [Gene - HGNC]
  • TRBV4-1:T cell receptor beta variable 4-1 [Gene - HGNC]
  • TRBV4-2:T cell receptor beta variable 4-2 [Gene - HGNC]
  • TRBV5-1:T cell receptor beta variable 5-1 [Gene - HGNC]
  • TRBV5-4:T cell receptor beta variable 5-4 [Gene - HGNC]
  • TRBV5-5:T cell receptor beta variable 5-5 [Gene - HGNC]
  • TRBV5-6:T cell receptor beta variable 5-6 [Gene - HGNC]
  • TRBV5-7:T cell receptor beta variable 5-7 (non-functional) [Gene - HGNC]
  • TRBV6-1:T cell receptor beta variable 6-1 [Gene - HGNC]
  • TRBV6-3:T cell receptor beta variable 6-3 [Gene - HGNC]
  • TRBV6-4:T cell receptor beta variable 6-4 [Gene - HGNC]
  • TRBV6-5:T cell receptor beta variable 6-5 [Gene - HGNC]
  • TRBV6-6:T cell receptor beta variable 6-6 [Gene - HGNC]
  • TRBV6-8:T cell receptor beta variable 6-8 [Gene - HGNC]
  • TRBV7-2:T cell receptor beta variable 7-2 [Gene - HGNC]
  • TRBV7-3:T cell receptor beta variable 7-3 [Gene - HGNC]
  • TRBV7-4:T cell receptor beta variable 7-4 [Gene - HGNC]
  • TRBV7-6:T cell receptor beta variable 7-6 [Gene - HGNC]
  • TRBV7-7:T cell receptor beta variable 7-7 [Gene - HGNC]
  • TRBV7-9:T cell receptor beta variable 7-9 [Gene - HGNC]
  • TRBV9:T cell receptor beta variable 9 [Gene - HGNC]
  • TMEM139-AS1:TMEM139 antisense RNA 1 [Gene - HGNC]
  • TCAF1:TRPM8 channel associated factor 1 [Gene - OMIM - HGNC]
  • TCAF2:TRPM8 channel associated factor 2 [Gene - OMIM - HGNC]
  • LOC110121253:VISTA enhancer hs2077 [Gene]
  • LOC110121255:VISTA enhancer hs2082 [Gene]
  • WEE2-AS1:WEE2 antisense RNA 1 [Gene - HGNC]
  • WEE2:WEE2 oocyte meiosis inhibiting kinase [Gene - OMIM - HGNC]
  • ADCK2:aarF domain containing kinase 2 [Gene - HGNC]
  • AGK:acylglycerol kinase [Gene - OMIM - HGNC]
  • AKR1D1:aldo-keto reductase family 1 member D1 [Gene - OMIM - HGNC]
  • CREB3L2:cAMP responsive element binding protein 3 like 2 [Gene - OMIM - HGNC]
  • CASP2:caspase 2 [Gene - OMIM - HGNC]
  • CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
  • CHRM2:cholinergic receptor muscarinic 2 [Gene - OMIM - HGNC]
  • DGKI:diacylglycerol kinase iota [Gene - OMIM - HGNC]
  • FAM131B:family with sequence similarity 131 member B [Gene - OMIM - HGNC]
  • FAM180A:family with sequence similarity 180 member A [Gene - HGNC]
  • FMC1:formation of mitochondrial complex V assembly factor 1 homolog [Gene - HGNC]
  • GSTK1:glutathione S-transferase kappa 1 [Gene - OMIM - HGNC]
  • HIPK2:homeodomain interacting protein kinase 2 [Gene - OMIM - HGNC]
  • IFT56:intraflagellar transport 56 [Gene - OMIM - HGNC]
  • KLRG2:killer cell lectin like receptor G2 [Gene - HGNC]
  • LUZP6:leucine zipper protein 6 [Gene - OMIM - HGNC]
  • KDM7A:lysine demethylase 7A [Gene - OMIM - HGNC]
  • MKRN1:makorin ring finger protein 1 [Gene - OMIM - HGNC]
  • MGAM2:maltase-glucoamylase 2 (putative) [Gene - HGNC]
  • MGAM:maltase-glucoamylase [Gene - OMIM - HGNC]
  • MIR10399:microRNA 10399 [Gene - HGNC]
  • MIR11400:microRNA 11400 [Gene - HGNC]
  • MIR4468:microRNA 4468 [Gene - HGNC]
  • MIR490:microRNA 490 [Gene - OMIM - HGNC]
  • MIR6892:microRNA 6892 [Gene - HGNC]
  • MRPS33:mitochondrial ribosomal protein S33 [Gene - OMIM - HGNC]
  • MTPN:myotrophin [Gene - OMIM - HGNC]
  • NUP205:nucleoporin 205 [Gene - OMIM - HGNC]
  • OR10AC1:olfactory receptor family 10 subfamily AC member 1 (gene/pseudogene) [Gene - HGNC]
  • OR2A12:olfactory receptor family 2 subfamily A member 12 [Gene - HGNC]
  • OR2A14:olfactory receptor family 2 subfamily A member 14 [Gene - HGNC]
  • OR2A25:olfactory receptor family 2 subfamily A member 25 [Gene - HGNC]
  • OR2A2:olfactory receptor family 2 subfamily A member 2 [Gene - HGNC]
  • OR2A5:olfactory receptor family 2 subfamily A member 5 [Gene - HGNC]
  • OR2F1:olfactory receptor family 2 subfamily F member 1 [Gene - OMIM - HGNC]
  • OR2F2:olfactory receptor family 2 subfamily F member 2 [Gene - HGNC]
  • OR6B1:olfactory receptor family 6 subfamily B member 1 [Gene - HGNC]
  • OR6V1:olfactory receptor family 6 subfamily V member 1 [Gene - HGNC]
  • OR9A2:olfactory receptor family 9 subfamily A member 2 [Gene - HGNC]
  • OR9A4:olfactory receptor family 9 subfamily A member 4 [Gene - HGNC]
  • LOC111089942:pleiotrophin promoter [Gene]
  • PTN:pleiotrophin [Gene - OMIM - HGNC]
  • PARP12:poly(ADP-ribose) polymerase family member 12 [Gene - OMIM - HGNC]
  • PIP:prolactin induced protein [Gene - OMIM - HGNC]
  • PRSS1:serine protease 1 [Gene - OMIM - HGNC]
  • PRSS2:serine protease 2 [Gene - OMIM - HGNC]
  • PRSS37:serine protease 37 [Gene - HGNC]
  • PRSS58:serine protease 58 [Gene - HGNC]
  • STMP1:short transmembrane mitochondrial protein 1 [Gene - OMIM - HGNC]
  • SSBP1:single stranded DNA binding protein 1 [Gene - OMIM - HGNC]
  • SLC13A4:solute carrier family 13 member 4 [Gene - OMIM - HGNC]
  • SLC37A3:solute carrier family 37 member 3 [Gene - OMIM - HGNC]
  • TRR-CCT4-1:tRNA-Arg (anticodon CCT) 4-1 [Gene - HGNC]
  • TAS2R38:taste 2 receptor member 38 [Gene - OMIM - HGNC]
  • TAS2R39:taste 2 receptor member 39 [Gene - HGNC]
  • TAS2R3:taste 2 receptor member 3 [Gene - OMIM - HGNC]
  • TAS2R40:taste 2 receptor member 40 [Gene - OMIM - HGNC]
  • TAS2R41:taste 2 receptor member 41 [Gene - OMIM - HGNC]
  • TAS2R4:taste 2 receptor member 4 [Gene - OMIM - HGNC]
  • TAS2R5:taste 2 receptor member 5 [Gene - OMIM - HGNC]
  • TAS2R60:taste 2 receptor member 60 [Gene - OMIM - HGNC]
  • TBXAS1:thromboxane A synthase 1 [Gene - OMIM - HGNC]
  • TRPV5:transient receptor potential cation channel subfamily V member 5 [Gene - OMIM - HGNC]
  • TRPV6:transient receptor potential cation channel subfamily V member 6 [Gene - OMIM - HGNC]
  • TMEM139:transmembrane protein 139 [Gene - OMIM - HGNC]
  • TMEM178B:transmembrane protein 178B [Gene - HGNC]
  • TMEM213:transmembrane protein 213 [Gene - HGNC]
  • TRIM24:tripartite motif containing 24 [Gene - OMIM - HGNC]
  • UBN2:ubinuclein 2 [Gene - OMIM - HGNC]
  • LOC100129148:uncharacterized LOC100129148 [Gene]
  • LOC105375523:uncharacterized LOC105375523 [Gene]
  • LOC105375527:uncharacterized LOC105375527 [Gene]
  • LOC349160:uncharacterized LOC349160 [Gene]
  • ZC3HAV1L:zinc finger CCCH-type containing, antiviral 1 like [Gene - HGNC]
  • ZC3HAV1:zinc finger CCCH-type containing, antiviral 1 [Gene - OMIM - HGNC]
  • ZYX:zyxin [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q33-35
Genomic location:
Preferred name:
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1
HGVS:
  • NC_000007.14:g.(?_135414108)_(144140219_?)del
  • NC_000007.12:g.(?_134749397)_(143468245_?)del
  • NC_000007.13:g.(?_135098857)_(143837312_?)del
Links:
dbVar: nssv578215; dbVar: nsv532842
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
SCV000081537GeneDx
criteria provided, single submitter

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

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 GeneDx, SCV000081537.4

#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