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GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 5, 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:
RCV000141987.6

Allele description [Variation Report for GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1]

GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1

Genes:
  • PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
  • ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • LOC129995331:ATAC-STARR-seq lymphoblastoid active region 23680 [Gene]
  • LOC129995332:ATAC-STARR-seq lymphoblastoid active region 23681 [Gene]
  • LOC129995337:ATAC-STARR-seq lymphoblastoid active region 23684 [Gene]
  • LOC129995338:ATAC-STARR-seq lymphoblastoid active region 23685 [Gene]
  • LOC129995340:ATAC-STARR-seq lymphoblastoid active region 23686 [Gene]
  • LOC129995341:ATAC-STARR-seq lymphoblastoid active region 23687 [Gene]
  • LOC129995344:ATAC-STARR-seq lymphoblastoid active region 23688 [Gene]
  • LOC129995345:ATAC-STARR-seq lymphoblastoid active region 23689 [Gene]
  • LOC129995356:ATAC-STARR-seq lymphoblastoid active region 23691 [Gene]
  • LOC129995361:ATAC-STARR-seq lymphoblastoid active region 23693 [Gene]
  • LOC129995364:ATAC-STARR-seq lymphoblastoid active region 23699 [Gene]
  • LOC129995365:ATAC-STARR-seq lymphoblastoid active region 23700 [Gene]
  • LOC129995366:ATAC-STARR-seq lymphoblastoid active region 23701 [Gene]
  • LOC129995367:ATAC-STARR-seq lymphoblastoid active region 23702 [Gene]
  • LOC129995368:ATAC-STARR-seq lymphoblastoid active region 23703 [Gene]
  • LOC129995369:ATAC-STARR-seq lymphoblastoid active region 23704 [Gene]
  • LOC129995372:ATAC-STARR-seq lymphoblastoid active region 23705 [Gene]
  • LOC129995373:ATAC-STARR-seq lymphoblastoid active region 23706 [Gene]
  • LOC129995374:ATAC-STARR-seq lymphoblastoid active region 23708 [Gene]
  • LOC129995375:ATAC-STARR-seq lymphoblastoid active region 23709 [Gene]
  • LOC129995376:ATAC-STARR-seq lymphoblastoid active region 23710 [Gene]
  • LOC129995377:ATAC-STARR-seq lymphoblastoid active region 23711 [Gene]
  • LOC129995378:ATAC-STARR-seq lymphoblastoid active region 23712 [Gene]
  • LOC129995379:ATAC-STARR-seq lymphoblastoid active region 23717 [Gene]
  • LOC129995380:ATAC-STARR-seq lymphoblastoid active region 23718 [Gene]
  • LOC129995381:ATAC-STARR-seq lymphoblastoid active region 23719 [Gene]
  • LOC129995387:ATAC-STARR-seq lymphoblastoid active region 23720 [Gene]
  • LOC129995388:ATAC-STARR-seq lymphoblastoid active region 23721 [Gene]
  • LOC129995389:ATAC-STARR-seq lymphoblastoid active region 23722 [Gene]
  • LOC129995390:ATAC-STARR-seq lymphoblastoid active region 23723 [Gene]
  • LOC129995391:ATAC-STARR-seq lymphoblastoid active region 23724 [Gene]
  • LOC129995392:ATAC-STARR-seq lymphoblastoid active region 23725 [Gene]
  • LOC129995393:ATAC-STARR-seq lymphoblastoid active region 23726 [Gene]
  • LOC129995395:ATAC-STARR-seq lymphoblastoid active region 23727 [Gene]
  • LOC129995396:ATAC-STARR-seq lymphoblastoid active region 23728 [Gene]
  • LOC129995398:ATAC-STARR-seq lymphoblastoid active region 23731 [Gene]
  • LOC129995399:ATAC-STARR-seq lymphoblastoid active region 23732 [Gene]
  • LOC129995405:ATAC-STARR-seq lymphoblastoid active region 23733 [Gene]
  • LOC129995410:ATAC-STARR-seq lymphoblastoid active region 23739 [Gene]
  • LOC129995411:ATAC-STARR-seq lymphoblastoid active region 23740 [Gene]
  • LOC129995416:ATAC-STARR-seq lymphoblastoid active region 23742 [Gene]
  • LOC129995417:ATAC-STARR-seq lymphoblastoid active region 23743 [Gene]
  • LOC129995418:ATAC-STARR-seq lymphoblastoid active region 23744 [Gene]
  • LOC129995419:ATAC-STARR-seq lymphoblastoid active region 23745 [Gene]
  • LOC129995424:ATAC-STARR-seq lymphoblastoid active region 23748 [Gene]
  • LOC129995427:ATAC-STARR-seq lymphoblastoid active region 23749 [Gene]
  • LOC129995429:ATAC-STARR-seq lymphoblastoid active region 23750 [Gene]
  • LOC129995431:ATAC-STARR-seq lymphoblastoid active region 23751 [Gene]
  • LOC129995432:ATAC-STARR-seq lymphoblastoid active region 23752 [Gene]
  • LOC129995433:ATAC-STARR-seq lymphoblastoid active region 23753 [Gene]
  • LOC129995434:ATAC-STARR-seq lymphoblastoid active region 23754 [Gene]
  • LOC129995435:ATAC-STARR-seq lymphoblastoid active region 23756 [Gene]
  • LOC129995438:ATAC-STARR-seq lymphoblastoid active region 23757 [Gene]
  • LOC129995439:ATAC-STARR-seq lymphoblastoid active region 23758 [Gene]
  • LOC129995441:ATAC-STARR-seq lymphoblastoid active region 23759 [Gene]
  • LOC129995451:ATAC-STARR-seq lymphoblastoid active region 23765 [Gene]
  • LOC129995453:ATAC-STARR-seq lymphoblastoid active region 23766 [Gene]
  • LOC129995457:ATAC-STARR-seq lymphoblastoid active region 23767 [Gene]
  • LOC129995465:ATAC-STARR-seq lymphoblastoid active region 23768 [Gene]
  • LOC129995470:ATAC-STARR-seq lymphoblastoid active region 23769 [Gene]
  • LOC129995471:ATAC-STARR-seq lymphoblastoid active region 23770 [Gene]
  • LOC129995474:ATAC-STARR-seq lymphoblastoid active region 23771 [Gene]
  • LOC129995478:ATAC-STARR-seq lymphoblastoid active region 23772 [Gene]
  • LOC129995479:ATAC-STARR-seq lymphoblastoid active region 23773 [Gene]
  • LOC129995480:ATAC-STARR-seq lymphoblastoid active region 23774 [Gene]
  • LOC129995481:ATAC-STARR-seq lymphoblastoid active region 23775 [Gene]
  • LOC129995482:ATAC-STARR-seq lymphoblastoid active region 23776 [Gene]
  • LOC129995483:ATAC-STARR-seq lymphoblastoid active region 23778 [Gene]
  • LOC129995485:ATAC-STARR-seq lymphoblastoid active region 23780 [Gene]
  • LOC129995490:ATAC-STARR-seq lymphoblastoid active region 23781 [Gene]
  • LOC129995493:ATAC-STARR-seq lymphoblastoid active region 23782 [Gene]
  • LOC129995499:ATAC-STARR-seq lymphoblastoid active region 23783 [Gene]
  • LOC129995500:ATAC-STARR-seq lymphoblastoid active region 23784 [Gene]
  • LOC129995501:ATAC-STARR-seq lymphoblastoid active region 23785 [Gene]
  • LOC129995502:ATAC-STARR-seq lymphoblastoid active region 23786 [Gene]
  • LOC129995506:ATAC-STARR-seq lymphoblastoid active region 23787 [Gene]
  • LOC129995508:ATAC-STARR-seq lymphoblastoid active region 23788 [Gene]
  • LOC129995509:ATAC-STARR-seq lymphoblastoid active region 23789 [Gene]
  • LOC129995510:ATAC-STARR-seq lymphoblastoid active region 23790 [Gene]
  • LOC129995511:ATAC-STARR-seq lymphoblastoid active region 23791 [Gene]
  • LOC129995512:ATAC-STARR-seq lymphoblastoid active region 23792 [Gene]
  • LOC129995513:ATAC-STARR-seq lymphoblastoid active region 23794 [Gene]
  • LOC129995514:ATAC-STARR-seq lymphoblastoid active region 23795 [Gene]
  • LOC129995327:ATAC-STARR-seq lymphoblastoid silent region 16645 [Gene]
  • LOC129995328:ATAC-STARR-seq lymphoblastoid silent region 16646 [Gene]
  • LOC129995329:ATAC-STARR-seq lymphoblastoid silent region 16647 [Gene]
  • LOC129995330:ATAC-STARR-seq lymphoblastoid silent region 16648 [Gene]
  • LOC129995333:ATAC-STARR-seq lymphoblastoid silent region 16649 [Gene]
  • LOC129995334:ATAC-STARR-seq lymphoblastoid silent region 16650 [Gene]
  • LOC129995335:ATAC-STARR-seq lymphoblastoid silent region 16651 [Gene]
  • LOC129995336:ATAC-STARR-seq lymphoblastoid silent region 16652 [Gene]
  • LOC129995339:ATAC-STARR-seq lymphoblastoid silent region 16653 [Gene]
  • LOC129995342:ATAC-STARR-seq lymphoblastoid silent region 16654 [Gene]
  • LOC129995343:ATAC-STARR-seq lymphoblastoid silent region 16655 [Gene]
  • LOC129995346:ATAC-STARR-seq lymphoblastoid silent region 16656 [Gene]
  • LOC129995347:ATAC-STARR-seq lymphoblastoid silent region 16657 [Gene]
  • LOC129995348:ATAC-STARR-seq lymphoblastoid silent region 16658 [Gene]
  • LOC129995349:ATAC-STARR-seq lymphoblastoid silent region 16659 [Gene]
  • LOC129995350:ATAC-STARR-seq lymphoblastoid silent region 16660 [Gene]
  • LOC129995351:ATAC-STARR-seq lymphoblastoid silent region 16661 [Gene]
  • LOC129995352:ATAC-STARR-seq lymphoblastoid silent region 16662 [Gene]
  • LOC129995353:ATAC-STARR-seq lymphoblastoid silent region 16663 [Gene]
  • LOC129995354:ATAC-STARR-seq lymphoblastoid silent region 16664 [Gene]
  • LOC129995355:ATAC-STARR-seq lymphoblastoid silent region 16665 [Gene]
  • LOC129995357:ATAC-STARR-seq lymphoblastoid silent region 16666 [Gene]
  • LOC129995358:ATAC-STARR-seq lymphoblastoid silent region 16667 [Gene]
  • LOC129995359:ATAC-STARR-seq lymphoblastoid silent region 16668 [Gene]
  • LOC129995360:ATAC-STARR-seq lymphoblastoid silent region 16670 [Gene]
  • LOC129995362:ATAC-STARR-seq lymphoblastoid silent region 16676 [Gene]
  • LOC129995363:ATAC-STARR-seq lymphoblastoid silent region 16677 [Gene]
  • LOC129995370:ATAC-STARR-seq lymphoblastoid silent region 16680 [Gene]
  • LOC129995371:ATAC-STARR-seq lymphoblastoid silent region 16681 [Gene]
  • LOC129995382:ATAC-STARR-seq lymphoblastoid silent region 16688 [Gene]
  • LOC129995383:ATAC-STARR-seq lymphoblastoid silent region 16691 [Gene]
  • LOC129995384:ATAC-STARR-seq lymphoblastoid silent region 16692 [Gene]
  • LOC129995385:ATAC-STARR-seq lymphoblastoid silent region 16696 [Gene]
  • LOC129995386:ATAC-STARR-seq lymphoblastoid silent region 16700 [Gene]
  • LOC129995394:ATAC-STARR-seq lymphoblastoid silent region 16701 [Gene]
  • LOC129995397:ATAC-STARR-seq lymphoblastoid silent region 16702 [Gene]
  • LOC129995400:ATAC-STARR-seq lymphoblastoid silent region 16704 [Gene]
  • LOC129995401:ATAC-STARR-seq lymphoblastoid silent region 16705 [Gene]
  • LOC129995402:ATAC-STARR-seq lymphoblastoid silent region 16706 [Gene]
  • LOC129995403:ATAC-STARR-seq lymphoblastoid silent region 16707 [Gene]
  • LOC129995404:ATAC-STARR-seq lymphoblastoid silent region 16708 [Gene]
  • LOC129995406:ATAC-STARR-seq lymphoblastoid silent region 16709 [Gene]
  • LOC129995407:ATAC-STARR-seq lymphoblastoid silent region 16710 [Gene]
  • LOC129995408:ATAC-STARR-seq lymphoblastoid silent region 16711 [Gene]
  • LOC129995409:ATAC-STARR-seq lymphoblastoid silent region 16712 [Gene]
  • LOC129995412:ATAC-STARR-seq lymphoblastoid silent region 16714 [Gene]
  • LOC129995413:ATAC-STARR-seq lymphoblastoid silent region 16715 [Gene]
  • LOC129995414:ATAC-STARR-seq lymphoblastoid silent region 16716 [Gene]
  • LOC129995415:ATAC-STARR-seq lymphoblastoid silent region 16717 [Gene]
  • LOC129995420:ATAC-STARR-seq lymphoblastoid silent region 16720 [Gene]
  • LOC129995421:ATAC-STARR-seq lymphoblastoid silent region 16721 [Gene]
  • LOC129995422:ATAC-STARR-seq lymphoblastoid silent region 16722 [Gene]
  • LOC129995423:ATAC-STARR-seq lymphoblastoid silent region 16723 [Gene]
  • LOC129995425:ATAC-STARR-seq lymphoblastoid silent region 16726 [Gene]
  • LOC129995426:ATAC-STARR-seq lymphoblastoid silent region 16727 [Gene]
  • LOC129995428:ATAC-STARR-seq lymphoblastoid silent region 16729 [Gene]
  • LOC129995430:ATAC-STARR-seq lymphoblastoid silent region 16730 [Gene]
  • LOC129995436:ATAC-STARR-seq lymphoblastoid silent region 16731 [Gene]
  • LOC129995437:ATAC-STARR-seq lymphoblastoid silent region 16732 [Gene]
  • LOC129995440:ATAC-STARR-seq lymphoblastoid silent region 16733 [Gene]
  • LOC129995442:ATAC-STARR-seq lymphoblastoid silent region 16735 [Gene]
  • LOC129995443:ATAC-STARR-seq lymphoblastoid silent region 16737 [Gene]
  • LOC129995444:ATAC-STARR-seq lymphoblastoid silent region 16739 [Gene]
  • LOC129995445:ATAC-STARR-seq lymphoblastoid silent region 16743 [Gene]
  • LOC129995446:ATAC-STARR-seq lymphoblastoid silent region 16744 [Gene]
  • LOC129995447:ATAC-STARR-seq lymphoblastoid silent region 16745 [Gene]
  • LOC129995448:ATAC-STARR-seq lymphoblastoid silent region 16746 [Gene]
  • LOC129995449:ATAC-STARR-seq lymphoblastoid silent region 16749 [Gene]
  • LOC129995450:ATAC-STARR-seq lymphoblastoid silent region 16750 [Gene]
  • LOC129995452:ATAC-STARR-seq lymphoblastoid silent region 16751 [Gene]
  • LOC129995454:ATAC-STARR-seq lymphoblastoid silent region 16752 [Gene]
  • LOC129995455:ATAC-STARR-seq lymphoblastoid silent region 16755 [Gene]
  • LOC129995456:ATAC-STARR-seq lymphoblastoid silent region 16756 [Gene]
  • LOC129995458:ATAC-STARR-seq lymphoblastoid silent region 16758 [Gene]
  • LOC129995459:ATAC-STARR-seq lymphoblastoid silent region 16759 [Gene]
  • LOC129995460:ATAC-STARR-seq lymphoblastoid silent region 16760 [Gene]
  • LOC129995461:ATAC-STARR-seq lymphoblastoid silent region 16761 [Gene]
  • LOC129995462:ATAC-STARR-seq lymphoblastoid silent region 16762 [Gene]
  • LOC129995463:ATAC-STARR-seq lymphoblastoid silent region 16763 [Gene]
  • LOC129995464:ATAC-STARR-seq lymphoblastoid silent region 16765 [Gene]
  • LOC129995466:ATAC-STARR-seq lymphoblastoid silent region 16766 [Gene]
  • LOC129995467:ATAC-STARR-seq lymphoblastoid silent region 16767 [Gene]
  • LOC129995468:ATAC-STARR-seq lymphoblastoid silent region 16768 [Gene]
  • LOC129995469:ATAC-STARR-seq lymphoblastoid silent region 16769 [Gene]
  • LOC129995472:ATAC-STARR-seq lymphoblastoid silent region 16773 [Gene]
  • LOC129995473:ATAC-STARR-seq lymphoblastoid silent region 16774 [Gene]
  • LOC129995475:ATAC-STARR-seq lymphoblastoid silent region 16775 [Gene]
  • LOC129995476:ATAC-STARR-seq lymphoblastoid silent region 16776 [Gene]
  • LOC129995477:ATAC-STARR-seq lymphoblastoid silent region 16777 [Gene]
  • LOC129995484:ATAC-STARR-seq lymphoblastoid silent region 16779 [Gene]
  • LOC129995486:ATAC-STARR-seq lymphoblastoid silent region 16780 [Gene]
  • LOC129995487:ATAC-STARR-seq lymphoblastoid silent region 16781 [Gene]
  • LOC129995488:ATAC-STARR-seq lymphoblastoid silent region 16782 [Gene]
  • LOC129995489:ATAC-STARR-seq lymphoblastoid silent region 16783 [Gene]
  • LOC129995491:ATAC-STARR-seq lymphoblastoid silent region 16784 [Gene]
  • LOC129995492:ATAC-STARR-seq lymphoblastoid silent region 16785 [Gene]
  • LOC129995494:ATAC-STARR-seq lymphoblastoid silent region 16786 [Gene]
  • LOC129995495:ATAC-STARR-seq lymphoblastoid silent region 16787 [Gene]
  • LOC129995496:ATAC-STARR-seq lymphoblastoid silent region 16788 [Gene]
  • LOC129995497:ATAC-STARR-seq lymphoblastoid silent region 16789 [Gene]
  • LOC129995498:ATAC-STARR-seq lymphoblastoid silent region 16790 [Gene]
  • LOC129995503:ATAC-STARR-seq lymphoblastoid silent region 16791 [Gene]
  • LOC129995504:ATAC-STARR-seq lymphoblastoid silent region 16792 [Gene]
  • LOC129995505:ATAC-STARR-seq lymphoblastoid silent region 16793 [Gene]
  • LOC129995507:ATAC-STARR-seq lymphoblastoid silent region 16794 [Gene]
  • LOC129995515:ATAC-STARR-seq lymphoblastoid silent region 16798 [Gene]
  • LOC129995516:ATAC-STARR-seq lymphoblastoid silent region 16799 [Gene]
  • LOC126807621:BRD4-independent group 4 enhancer GRCh37_chr5:177020409-177021608 [Gene]
  • LOC126807622:BRD4-independent group 4 enhancer GRCh37_chr5:177951804-177953003 [Gene]
  • LOC126807623:BRD4-independent group 4 enhancer GRCh37_chr5:178070356-178071555 [Gene]
  • LOC126807631:BRD4-independent group 4 enhancer GRCh37_chr5:179912532-179913731 [Gene]
  • CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
  • CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
  • LOC126807616:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 [Gene]
  • LOC126807618:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176488686-176489885 [Gene]
  • LOC126807620:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176728411-176729610 [Gene]
  • LOC126807625:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179003374-179004573 [Gene]
  • LOC126807627:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179302124-179303323 [Gene]
  • LOC126807630:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:179894063-179895262 [Gene]
  • LOC126807632:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180046831-180048030 [Gene]
  • LOC126807633:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:180376978-180378177 [Gene]
  • LOC116158533:CRISPRi-validated cis-regulatory element chr5.4836 [Gene]
  • LOC116158534:CRISPRi-validated cis-regulatory element chr5.4837 [Gene]
  • LOC116158535:CRISPRi-validated cis-regulatory element chr5.4886 [Gene]
  • LOC116158536:CRISPRi-validated cis-regulatory element chr5.4957 [Gene]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • LOC105980008:DLCR-2B recombination region [Gene]
  • LOC109279841:FGFR4 5' regulatory region [Gene]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • LOC111556140:GATA motif-containing MPRA enhancer 81 [Gene]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - OMIM - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • LOC126807615:MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 [Gene]
  • LOC126807619:MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 [Gene]
  • LOC126807624:MED14-independent group 3 enhancer GRCh37_chr5:178819998-178821197 [Gene]
  • LOC126807628:MED14-independent group 3 enhancer GRCh37_chr5:179461041-179462240 [Gene]
  • LOC129389417:MPRA-validated peak5588 silencer [Gene]
  • LOC129389418:MPRA-validated peak5589 silencer [Gene]
  • LOC129389419:MPRA-validated peak5592 silencer [Gene]
  • LOC129389420:MPRA-validated peak5597 silencer [Gene]
  • LOC129389421:MPRA-validated peak5604 silencer [Gene]
  • LOC129389422:MPRA-validated peak5609 silencer [Gene]
  • MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
  • MRNIP-DT:MRNIP divergent transcript [Gene - HGNC]
  • MSANTD5:Myb/SANT DNA binding domain containing 5 [Gene - HGNC]
  • N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
  • NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • LOC132089230:Neanderthal introgressed variant-containing enhancer experimental_83773 [Gene]
  • LOC126807617:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:176214607-176215806 [Gene]
  • LOC123575633:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:178057087-178058286 [Gene]
  • LOC126807626:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:179245687-179246886 [Gene]
  • LOC126807629:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:179868388-179869587 [Gene]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • LOC105980006:PLCR-B recombination region [Gene]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
  • PRR7-AS1:PRR7 antisense RNA 1 [Gene - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUFY1-AS1:RUFY1 antisense RNA 1 [Gene - HGNC]
  • RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • LOC114004391:Sharpr-MPRA regulatory region 11151 [Gene]
  • LOC123575632:Sharpr-MPRA regulatory region 11707 [Gene]
  • LOC121740634:Sharpr-MPRA regulatory region 11782 [Gene]
  • LOC112997582:Sharpr-MPRA regulatory region 11836 [Gene]
  • LOC123575640:Sharpr-MPRA regulatory region 11855 [Gene]
  • LOC123575641:Sharpr-MPRA regulatory region 12726 [Gene]
  • LOC123575628:Sharpr-MPRA regulatory region 12759 [Gene]
  • LOC112997580:Sharpr-MPRA regulatory region 12912 [Gene]
  • LOC121099716:Sharpr-MPRA regulatory region 13731 [Gene]
  • LOC123575638:Sharpr-MPRA regulatory region 14850 [Gene]
  • LOC121099718:Sharpr-MPRA regulatory region 15492 [Gene]
  • LOC112997583:Sharpr-MPRA regulatory region 15558 [Gene]
  • LOC121099717:Sharpr-MPRA regulatory region 1974 [Gene]
  • LOC112997584:Sharpr-MPRA regulatory region 4162 [Gene]
  • LOC123575637:Sharpr-MPRA regulatory region 4663 [Gene]
  • LOC121099715:Sharpr-MPRA regulatory region 4950 [Gene]
  • LOC123575629:Sharpr-MPRA regulatory region 4969 [Gene]
  • LOC123575634:Sharpr-MPRA regulatory region 5461 [Gene]
  • LOC123575636:Sharpr-MPRA regulatory region 5800 [Gene]
  • LOC123575631:Sharpr-MPRA regulatory region 583 [Gene]
  • LOC123575630:Sharpr-MPRA regulatory region 7457 [Gene]
  • LOC121740633:Sharpr-MPRA regulatory region 75 [Gene]
  • LOC123575627:Sharpr-MPRA regulatory region 8396 [Gene]
  • LOC121740635:Sharpr-MPRA regulatory region 8548 [Gene]
  • LOC123575639:Sharpr-MPRA regulatory region 9005 [Gene]
  • LOC112997581:Sharpr-MPRA regulatory region 9172 [Gene]
  • LOC123575635:Sharpr-MPRA regulatory region 9602 [Gene]
  • TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • THOC3-AS1:THOC3 antisense RNA 1 [Gene - HGNC]
  • TRIM52-AS1:TRIM52 antisense RNA 1 (head to head) [Gene - OMIM - HGNC]
  • TRIM7-AS2:TRIM7 antisense RNA 2 [Gene - HGNC]
  • LOC110121241:VISTA enhancer hs2007 [Gene]
  • LOC110121284:VISTA enhancer hs2229 [Gene]
  • ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
  • ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
  • ZNF454-DT:ZNF454 divergent transcript [Gene - HGNC]
  • MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
  • BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
  • BTNL9:butyrophilin like 9 [Gene - OMIM - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CANX:calnexin [Gene - OMIM - HGNC]
  • CBY3:chibby family member 3 [Gene - HGNC]
  • LOC100289470:chromosome 5 open reading frame 60-like [Gene]
  • LOC100502572:chromosome 5 open reading frame 60-like [Gene]
  • C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • GMCL2:germ cell-less 2, spermatogenesis associated [Gene - OMIM - HGNC]
  • GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
  • GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
  • HEIH:hepatocellular carcinoma up-regulated EZH2-associated long non-coding RNA [Gene - OMIM - HGNC]
  • HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
  • HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
  • LINC01574:long intergenic non-protein coding RNA 1574 [Gene - HGNC]
  • LINC01962:long intergenic non-protein coding RNA 1962 [Gene - HGNC]
  • LINC02222:long intergenic non-protein coding RNA 2222 [Gene - HGNC]
  • LINC00847:long intergenic non-protein coding RNA 847 [Gene - HGNC]
  • MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
  • MIR1229:microRNA 1229 [Gene - HGNC]
  • MIR1271:microRNA 1271 [Gene - HGNC]
  • MIR340:microRNA 340 [Gene - HGNC]
  • MIR4281:microRNA 4281 [Gene - HGNC]
  • MIR4638:microRNA 4638 [Gene - HGNC]
  • MIR8089:microRNA 8089 [Gene - HGNC]
  • MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
  • OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
  • OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
  • RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
  • SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
  • SNORD95:small nucleolar RNA, C/D box 95 [Gene - HGNC]
  • SNORD96A:small nucleolar RNA, C/D box 96A [Gene - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TRA-TGC3-1:tRNA-Ala (anticodon TGC) 3-1 [Gene - HGNC]
  • TRL-AAG1-1:tRNA-Leu (anticodon AAG) 1-1 [Gene - HGNC]
  • TRL-AAG1-2:tRNA-Leu (anticodon AAG) 1-2 [Gene - HGNC]
  • TRL-AAG1-3:tRNA-Leu (anticodon AAG) 1-3 [Gene - HGNC]
  • TRL-AAG2-1:tRNA-Leu (anticodon AAG) 2-1 [Gene - HGNC]
  • TRK-CTT2-2:tRNA-Lys (anticodon CTT) 2-2 [Gene - HGNC]
  • TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
  • TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
  • TRV-AAC1-2:tRNA-Val (anticodon AAC) 1-2 [Gene - HGNC]
  • TRV-AAC1-3:tRNA-Val (anticodon AAC) 1-3 [Gene - HGNC]
  • TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
  • TRV-AAC2-1:tRNA-Val (anticodon AAC) 2-1 [Gene - HGNC]
  • TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
  • TRV-CAC1-3:tRNA-Val (anticodon CAC) 1-3 [Gene - HGNC]
  • TRV-CAC1-4:tRNA-Val (anticodon CAC) 1-4 [Gene - HGNC]
  • TRV-CAC1-5:tRNA-Val (anticodon CAC) 1-5 [Gene - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
  • TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
  • TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
  • TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • LOC100128340:uncharacterized LOC100128340 [Gene]
  • LOC100996385:uncharacterized LOC100996385 [Gene]
  • CTC-338M12.4:uncharacterized LOC101928649 [Gene]
  • LOC105377753:uncharacterized LOC105377753 [Gene]
  • LOC105377763:uncharacterized LOC105377763 [Gene]
  • LOC128966623:uncharacterized LOC128966623 [Gene]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
  • ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
  • ZNF354B:zinc finger protein 354B [Gene - HGNC]
  • ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
  • ZNF454:zinc finger protein 454 [Gene - HGNC]
  • ZNF879:zinc finger protein 879 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q35.2-35.3
Genomic location:
Preferred name:
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1
HGVS:
  • NC_000005.10:g.(?_175536771)_(181292788_?)del
  • NC_000005.8:g.(?_174896380)_(180652395_?)del
  • NC_000005.9:g.(?_174963774)_(180719789_?)del
Links:
dbVar: nssv3397296; dbVar: nsv995681
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
SCV000183108ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 5, 2013) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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

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

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

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000183108.4

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

Last Updated: May 7, 2024