GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 14, 2011
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:: RCV000135549.7

Allele description [Variation Report for GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1]

GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1

Genes:

ARL14EPL:ADP ribosylation factor like GTPase 14 effector protein like [Gene - HGNC]
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
LOC129994360:ATAC-STARR-seq lymphoblastoid active region 22898 [Gene]
LOC129994361:ATAC-STARR-seq lymphoblastoid active region 22899 [Gene]
LOC129994363:ATAC-STARR-seq lymphoblastoid active region 22900 [Gene]
LOC129994364:ATAC-STARR-seq lymphoblastoid active region 22901 [Gene]
LOC129994365:ATAC-STARR-seq lymphoblastoid active region 22903 [Gene]
LOC129994368:ATAC-STARR-seq lymphoblastoid active region 22904 [Gene]
LOC129994371:ATAC-STARR-seq lymphoblastoid active region 22910 [Gene]
LOC129994375:ATAC-STARR-seq lymphoblastoid active region 22913 [Gene]
LOC129994377:ATAC-STARR-seq lymphoblastoid active region 22914 [Gene]
LOC129994378:ATAC-STARR-seq lymphoblastoid active region 22915 [Gene]
LOC129994379:ATAC-STARR-seq lymphoblastoid active region 22916 [Gene]
LOC129994381:ATAC-STARR-seq lymphoblastoid active region 22921 [Gene]
LOC129994384:ATAC-STARR-seq lymphoblastoid active region 22922 [Gene]
LOC129994385:ATAC-STARR-seq lymphoblastoid active region 22923 [Gene]
LOC129994388:ATAC-STARR-seq lymphoblastoid active region 22925 [Gene]
LOC129994390:ATAC-STARR-seq lymphoblastoid active region 22926 [Gene]
LOC129994391:ATAC-STARR-seq lymphoblastoid active region 22927 [Gene]
LOC129994393:ATAC-STARR-seq lymphoblastoid active region 22928 [Gene]
LOC129994394:ATAC-STARR-seq lymphoblastoid active region 22929 [Gene]
LOC129994395:ATAC-STARR-seq lymphoblastoid active region 22930 [Gene]
LOC129994396:ATAC-STARR-seq lymphoblastoid active region 22931 [Gene]
LOC129994397:ATAC-STARR-seq lymphoblastoid active region 22932 [Gene]
LOC129994398:ATAC-STARR-seq lymphoblastoid active region 22933 [Gene]
LOC129994399:ATAC-STARR-seq lymphoblastoid active region 22934 [Gene]
LOC129994402:ATAC-STARR-seq lymphoblastoid active region 22936 [Gene]
LOC129994405:ATAC-STARR-seq lymphoblastoid active region 22939 [Gene]
LOC129994406:ATAC-STARR-seq lymphoblastoid active region 22940 [Gene]
LOC129994407:ATAC-STARR-seq lymphoblastoid active region 22941 [Gene]
LOC129994408:ATAC-STARR-seq lymphoblastoid active region 22942 [Gene]
LOC129994409:ATAC-STARR-seq lymphoblastoid active region 22943 [Gene]
LOC129994410:ATAC-STARR-seq lymphoblastoid active region 22944 [Gene]
LOC129994412:ATAC-STARR-seq lymphoblastoid active region 22945 [Gene]
LOC129994415:ATAC-STARR-seq lymphoblastoid active region 22946 [Gene]
LOC129994416:ATAC-STARR-seq lymphoblastoid active region 22948 [Gene]
LOC129994417:ATAC-STARR-seq lymphoblastoid active region 22950 [Gene]
LOC129994418:ATAC-STARR-seq lymphoblastoid active region 22951 [Gene]
LOC129994419:ATAC-STARR-seq lymphoblastoid active region 22952 [Gene]
LOC129994420:ATAC-STARR-seq lymphoblastoid active region 22953 [Gene]
LOC129994421:ATAC-STARR-seq lymphoblastoid active region 22954 [Gene]
LOC129994422:ATAC-STARR-seq lymphoblastoid active region 22955 [Gene]
LOC129994423:ATAC-STARR-seq lymphoblastoid active region 22956 [Gene]
LOC129994425:ATAC-STARR-seq lymphoblastoid active region 22957 [Gene]
LOC129994426:ATAC-STARR-seq lymphoblastoid active region 22958 [Gene]
LOC129994429:ATAC-STARR-seq lymphoblastoid active region 22959 [Gene]
LOC129994431:ATAC-STARR-seq lymphoblastoid active region 22960 [Gene]
LOC129994432:ATAC-STARR-seq lymphoblastoid active region 22961 [Gene]
LOC129994434:ATAC-STARR-seq lymphoblastoid active region 22962 [Gene]
LOC129994435:ATAC-STARR-seq lymphoblastoid active region 22963 [Gene]
LOC129994436:ATAC-STARR-seq lymphoblastoid active region 22964 [Gene]
LOC129994437:ATAC-STARR-seq lymphoblastoid active region 22965 [Gene]
LOC129994438:ATAC-STARR-seq lymphoblastoid active region 22966 [Gene]
LOC129994439:ATAC-STARR-seq lymphoblastoid active region 22967 [Gene]
LOC129994440:ATAC-STARR-seq lymphoblastoid active region 22968 [Gene]
LOC129994441:ATAC-STARR-seq lymphoblastoid active region 22969 [Gene]
LOC129994442:ATAC-STARR-seq lymphoblastoid active region 22971 [Gene]
LOC129994443:ATAC-STARR-seq lymphoblastoid active region 22972 [Gene]
LOC129994444:ATAC-STARR-seq lymphoblastoid active region 22973 [Gene]
LOC129994445:ATAC-STARR-seq lymphoblastoid active region 22974 [Gene]
LOC129994446:ATAC-STARR-seq lymphoblastoid active region 22975 [Gene]
LOC129994447:ATAC-STARR-seq lymphoblastoid active region 22976 [Gene]
LOC129994448:ATAC-STARR-seq lymphoblastoid active region 22977 [Gene]
LOC129994449:ATAC-STARR-seq lymphoblastoid active region 22978 [Gene]
LOC129994451:ATAC-STARR-seq lymphoblastoid active region 22979 [Gene]
LOC129994452:ATAC-STARR-seq lymphoblastoid active region 22980 [Gene]
LOC129994453:ATAC-STARR-seq lymphoblastoid active region 22981 [Gene]
LOC129994454:ATAC-STARR-seq lymphoblastoid active region 22982 [Gene]
LOC129994455:ATAC-STARR-seq lymphoblastoid active region 22983 [Gene]
LOC129994456:ATAC-STARR-seq lymphoblastoid active region 22984 [Gene]
LOC129994457:ATAC-STARR-seq lymphoblastoid active region 22985 [Gene]
LOC129994458:ATAC-STARR-seq lymphoblastoid active region 22986 [Gene]
LOC129994459:ATAC-STARR-seq lymphoblastoid active region 22987 [Gene]
LOC129994460:ATAC-STARR-seq lymphoblastoid active region 22989 [Gene]
LOC129994461:ATAC-STARR-seq lymphoblastoid active region 22990 [Gene]
LOC129994462:ATAC-STARR-seq lymphoblastoid active region 22991 [Gene]
LOC129994463:ATAC-STARR-seq lymphoblastoid active region 22992 [Gene]
LOC129994466:ATAC-STARR-seq lymphoblastoid active region 22995 [Gene]
LOC129994467:ATAC-STARR-seq lymphoblastoid active region 22996 [Gene]
LOC129994468:ATAC-STARR-seq lymphoblastoid active region 22997 [Gene]
LOC129994470:ATAC-STARR-seq lymphoblastoid active region 22998 [Gene]
LOC129994471:ATAC-STARR-seq lymphoblastoid active region 22999 [Gene]
LOC129994472:ATAC-STARR-seq lymphoblastoid active region 23000 [Gene]
LOC129994473:ATAC-STARR-seq lymphoblastoid active region 23001 [Gene]
LOC129994476:ATAC-STARR-seq lymphoblastoid active region 23002 [Gene]
LOC129994479:ATAC-STARR-seq lymphoblastoid active region 23003 [Gene]
LOC129994480:ATAC-STARR-seq lymphoblastoid active region 23004 [Gene]
LOC129994483:ATAC-STARR-seq lymphoblastoid active region 23005 [Gene]
LOC129994484:ATAC-STARR-seq lymphoblastoid active region 23006 [Gene]
LOC129994485:ATAC-STARR-seq lymphoblastoid active region 23007 [Gene]
LOC129994486:ATAC-STARR-seq lymphoblastoid active region 23008 [Gene]
LOC129994488:ATAC-STARR-seq lymphoblastoid active region 23009 [Gene]
LOC129994489:ATAC-STARR-seq lymphoblastoid active region 23010 [Gene]
LOC129994490:ATAC-STARR-seq lymphoblastoid active region 23011 [Gene]
LOC129994491:ATAC-STARR-seq lymphoblastoid active region 23012 [Gene]
LOC129994492:ATAC-STARR-seq lymphoblastoid active region 23013 [Gene]
LOC129994493:ATAC-STARR-seq lymphoblastoid active region 23014 [Gene]
LOC129994494:ATAC-STARR-seq lymphoblastoid active region 23015 [Gene]
LOC129994496:ATAC-STARR-seq lymphoblastoid active region 23018 [Gene]
LOC129994497:ATAC-STARR-seq lymphoblastoid active region 23019 [Gene]
LOC129994498:ATAC-STARR-seq lymphoblastoid active region 23020 [Gene]
LOC129994499:ATAC-STARR-seq lymphoblastoid active region 23021 [Gene]
LOC129994500:ATAC-STARR-seq lymphoblastoid active region 23022 [Gene]
LOC129994503:ATAC-STARR-seq lymphoblastoid active region 23023 [Gene]
LOC129994504:ATAC-STARR-seq lymphoblastoid active region 23024 [Gene]
LOC129994505:ATAC-STARR-seq lymphoblastoid active region 23025 [Gene]
LOC129994509:ATAC-STARR-seq lymphoblastoid active region 23026 [Gene]
LOC129994510:ATAC-STARR-seq lymphoblastoid active region 23027 [Gene]
LOC129994511:ATAC-STARR-seq lymphoblastoid active region 23028 [Gene]
LOC129994512:ATAC-STARR-seq lymphoblastoid active region 23029 [Gene]
LOC129994513:ATAC-STARR-seq lymphoblastoid active region 23030 [Gene]
LOC129994514:ATAC-STARR-seq lymphoblastoid active region 23031 [Gene]
LOC129994515:ATAC-STARR-seq lymphoblastoid active region 23032 [Gene]
LOC129994362:ATAC-STARR-seq lymphoblastoid silent region 16233 [Gene]
LOC129994366:ATAC-STARR-seq lymphoblastoid silent region 16234 [Gene]
LOC129994367:ATAC-STARR-seq lymphoblastoid silent region 16235 [Gene]
LOC129994369:ATAC-STARR-seq lymphoblastoid silent region 16236 [Gene]
LOC129994370:ATAC-STARR-seq lymphoblastoid silent region 16237 [Gene]
LOC129994372:ATAC-STARR-seq lymphoblastoid silent region 16238 [Gene]
LOC129994373:ATAC-STARR-seq lymphoblastoid silent region 16239 [Gene]
LOC129994374:ATAC-STARR-seq lymphoblastoid silent region 16240 [Gene]
LOC129994376:ATAC-STARR-seq lymphoblastoid silent region 16241 [Gene]
LOC129994380:ATAC-STARR-seq lymphoblastoid silent region 16242 [Gene]
LOC129994382:ATAC-STARR-seq lymphoblastoid silent region 16243 [Gene]
LOC129994383:ATAC-STARR-seq lymphoblastoid silent region 16244 [Gene]
LOC129994386:ATAC-STARR-seq lymphoblastoid silent region 16245 [Gene]
LOC129994387:ATAC-STARR-seq lymphoblastoid silent region 16246 [Gene]
LOC129994389:ATAC-STARR-seq lymphoblastoid silent region 16247 [Gene]
LOC129994392:ATAC-STARR-seq lymphoblastoid silent region 16248 [Gene]
LOC129994400:ATAC-STARR-seq lymphoblastoid silent region 16252 [Gene]
LOC129994401:ATAC-STARR-seq lymphoblastoid silent region 16254 [Gene]
LOC129994403:ATAC-STARR-seq lymphoblastoid silent region 16255 [Gene]
LOC129994404:ATAC-STARR-seq lymphoblastoid silent region 16256 [Gene]
LOC129994411:ATAC-STARR-seq lymphoblastoid silent region 16257 [Gene]
LOC129994413:ATAC-STARR-seq lymphoblastoid silent region 16258 [Gene]
LOC129994414:ATAC-STARR-seq lymphoblastoid silent region 16259 [Gene]
LOC129994424:ATAC-STARR-seq lymphoblastoid silent region 16260 [Gene]
LOC129994427:ATAC-STARR-seq lymphoblastoid silent region 16261 [Gene]
LOC129994428:ATAC-STARR-seq lymphoblastoid silent region 16262 [Gene]
LOC129994430:ATAC-STARR-seq lymphoblastoid silent region 16263 [Gene]
LOC129994433:ATAC-STARR-seq lymphoblastoid silent region 16264 [Gene]
LOC129994450:ATAC-STARR-seq lymphoblastoid silent region 16265 [Gene]
LOC129994464:ATAC-STARR-seq lymphoblastoid silent region 16267 [Gene]
LOC129994465:ATAC-STARR-seq lymphoblastoid silent region 16268 [Gene]
LOC129994469:ATAC-STARR-seq lymphoblastoid silent region 16269 [Gene]
LOC129994474:ATAC-STARR-seq lymphoblastoid silent region 16270 [Gene]
LOC129994475:ATAC-STARR-seq lymphoblastoid silent region 16271 [Gene]
LOC129994477:ATAC-STARR-seq lymphoblastoid silent region 16272 [Gene]
LOC129994478:ATAC-STARR-seq lymphoblastoid silent region 16274 [Gene]
LOC129994481:ATAC-STARR-seq lymphoblastoid silent region 16275 [Gene]
LOC129994482:ATAC-STARR-seq lymphoblastoid silent region 16276 [Gene]
LOC129994487:ATAC-STARR-seq lymphoblastoid silent region 16277 [Gene]
LOC129994495:ATAC-STARR-seq lymphoblastoid silent region 16279 [Gene]
LOC129994501:ATAC-STARR-seq lymphoblastoid silent region 16280 [Gene]
LOC129994502:ATAC-STARR-seq lymphoblastoid silent region 16281 [Gene]
LOC129994506:ATAC-STARR-seq lymphoblastoid silent region 16284 [Gene]
LOC129994507:ATAC-STARR-seq lymphoblastoid silent region 16287 [Gene]
LOC129994508:ATAC-STARR-seq lymphoblastoid silent region 16288 [Gene]
LOC129994516:ATAC-STARR-seq lymphoblastoid silent region 16289 [Gene]
LOC129994517:ATAC-STARR-seq lymphoblastoid silent region 16290 [Gene]
LOC126807475:BRD4-independent group 4 enhancer GRCh37_chr5:111333199-111334398 [Gene]
LOC126807476:BRD4-independent group 4 enhancer GRCh37_chr5:111496090-111497289 [Gene]
LOC126807482:BRD4-independent group 4 enhancer GRCh37_chr5:114404076-114405275 [Gene]
LOC126807487:BRD4-independent group 4 enhancer GRCh37_chr5:116277759-116278958 [Gene]
LOC126807490:BRD4-independent group 4 enhancer GRCh37_chr5:120609330-120610529 [Gene]
LOC126807492:BRD4-independent group 4 enhancer GRCh37_chr5:121464631-121465830 [Gene]
LOC126807496:BRD4-independent group 4 enhancer GRCh37_chr5:125573255-125574454 [Gene]
LOC126807478:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:112417522-112418721 [Gene]
LOC126807485:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:115823690-115824889 [Gene]
LOC126807491:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:121434535-121435734 [Gene]
LOC126807494:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:122364057-122365256 [Gene]
LOC126807497:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:125695125-125696324 [Gene]
COMMD10:COMM domain containing 10 [Gene - OMIM - HGNC]
DMXL1-DT:DMXL1 divergent transcript [Gene - HGNC]
DTWD2:DTW domain containing 2 [Gene - HGNC]
DMXL1:Dmx like 1 [Gene - OMIM - HGNC]
EPB41L4A-AS1:EPB41L4A antisense RNA 1 [Gene - HGNC]
EPB41L4A-DT:EPB41L4A divergent transcript [Gene - HGNC]
GRAMD2B:GRAM domain containing 2B [Gene - OMIM - HGNC]
LMNB1-DT:LMNB1 divergent transcript [Gene - HGNC]
MCC:MCC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
LOC126807474:MED14-independent group 3 enhancer GRCh37_chr5:110865742-110866941 [Gene]
LOC126807480:MED14-independent group 3 enhancer GRCh37_chr5:113010540-113011739 [Gene]
LOC126807481:MED14-independent group 3 enhancer GRCh37_chr5:114368052-114369251 [Gene]
LOC126807486:MED14-independent group 3 enhancer GRCh37_chr5:115853599-115854798 [Gene]
LOC126807488:MED14-independent group 3 enhancer GRCh37_chr5:117814027-117815226 [Gene]
LOC126807493:MED14-independent group 3 enhancer GRCh37_chr5:121602368-121603567 [Gene]
LOC126807495:MED14-independent group 3 enhancer GRCh37_chr5:123592390-123593589 [Gene]
LOC129389344:MPRA-validated peak5419 silencer [Gene]
LOC129389345:MPRA-validated peak5421 silencer [Gene]
LOC129389346:MPRA-validated peak5422 silencer [Gene]
LOC129389347:MPRA-validated peak5423 silencer [Gene]
LOC129389348:MPRA-validated peak5426 silencer [Gene]
LOC129389349:MPRA-validated peak5429 silencer [Gene]
LOC129389350:MPRA-validated peak5430 silencer [Gene]
LOC129389351:MPRA-validated peak5434 silencer [Gene]
LOC129389352:MPRA-validated peak5441 silencer [Gene]
LOC129389353:MPRA-validated peak5446 silencer [Gene]
LOC129389354:MPRA-validated peak5448 silencer [Gene]
LOC129389355:MPRA-validated peak5451 silencer [Gene]
LOC129389356:MPRA-validated peak5452 silencer [Gene]
LOC129389357:MPRA-validated peak5453 silencer [Gene]
LOC129389358:MPRA-validated peak5455 silencer [Gene]
LOC129389359:MPRA-validated peak5456 silencer [Gene]
NREP-AS1:NREP antisense RNA 1 [Gene - HGNC]
LOC132089162:Neanderthal introgressed variant-containing enhancer experimental_80810 [Gene]
LOC132090732:Neanderthal introgressed variant-containing enhancer experimental_80867 [Gene]
LOC126807477:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112226954-112228153 [Gene]
LOC126807479:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:112502443-112503642 [Gene]
LOC126807483:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:114795999-114797198 [Gene]
LOC126807484:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:115265650-115266849 [Gene]
LOC126807489:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:118134858-118136057 [Gene]
LOC126807498:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:125780518-125781717 [Gene]
PRDM6:PR/SET domain 6 [Gene - OMIM - HGNC]
PRDM6-AS1:PRDM6 antisense RNA 1 [Gene - HGNC]
SEMA6A-AS1:SEMA6A antisense RNA 1 [Gene - HGNC]
SEMA6A-AS2:SEMA6A antisense RNA 2 [Gene - HGNC]
STARD4-AS1:STARD4 antisense RNA 1 [Gene - HGNC]
LOC123497959:Sharpr-MPRA regulatory region 10011 [Gene]
LOC112997555:Sharpr-MPRA regulatory region 10286 [Gene]
LOC123497962:Sharpr-MPRA regulatory region 12893 [Gene]
LOC121725214:Sharpr-MPRA regulatory region 12983 [Gene]
LOC123497961:Sharpr-MPRA regulatory region 13182 [Gene]
LOC121079957:Sharpr-MPRA regulatory region 13961 [Gene]
LOC121079956:Sharpr-MPRA regulatory region 14787 [Gene]
LOC123497956:Sharpr-MPRA regulatory region 14872 [Gene]
LOC123497960:Sharpr-MPRA regulatory region 15152 [Gene]
LOC121079959:Sharpr-MPRA regulatory region 293 [Gene]
LOC112997556:Sharpr-MPRA regulatory region 3880 [Gene]
LOC121725216:Sharpr-MPRA regulatory region 5951 [Gene]
LOC123497958:Sharpr-MPRA regulatory region 6110 [Gene]
LOC123497953:Sharpr-MPRA regulatory region 6283 [Gene]
LOC112997554:Sharpr-MPRA regulatory region 6 [Gene]
LOC123497954:Sharpr-MPRA regulatory region 7502 [Gene]
LOC123497964:Sharpr-MPRA regulatory region 7820 [Gene]
LOC121079958:Sharpr-MPRA regulatory region 8609 [Gene]
LOC121725215:Sharpr-MPRA regulatory region 9285 [Gene]
LOC123497955:Sharpr-MPRA regulatory region 9424 [Gene]
LOC123497963:Sharpr-MPRA regulatory region 9682 [Gene]
LOC112997553:Sharpr-MPRA regulatory region 9882 [Gene]
STARD4:StAR related lipid transfer domain containing 4 [Gene - OMIM - HGNC]
TICAM2-AS1:TICAM2 antisense RNA 1 [Gene - HGNC]
TICAM2:TIR domain containing adaptor molecule 2 [Gene - OMIM - HGNC]
TMED7-TICAM2:TMED7-TICAM2 readthrough [Gene - HGNC]
TNFAIP8:TNF alpha induced protein 8 [Gene - OMIM - HGNC]
LOC110121082:VISTA enhancer hs1371 [Gene]
LOC110121084:VISTA enhancer hs1375 [Gene]
LOC110121173:VISTA enhancer hs1643 [Gene]
LOC110121303:VISTA enhancer hs2325 [Gene]
YTHDC2:YTH N6-methyladenosine RNA binding protein C2 [Gene - OMIM - HGNC]
ZNF474-AS1:ZNF474 antisense RNA 1 [Gene - HGNC]
AP3S1:adaptor related protein complex 3 subunit sigma 1 [Gene - OMIM - HGNC]
ALDH7A1:aldehyde dehydrogenase 7 family member A1 [Gene - OMIM - HGNC]
ATG12:autophagy related 12 [Gene - OMIM - HGNC]
CAMK4:calcium/calmodulin dependent protein kinase IV [Gene - OMIM - HGNC]
CSNK1G3:casein kinase 1 gamma 3 [Gene - OMIM - HGNC]
CEP120:centrosomal protein 120 [Gene - OMIM - HGNC]
C5orf63:chromosome 5 open reading frame 63 [Gene - HGNC]
CCDC112:coiled-coil domain containing 112 [Gene - HGNC]
CDO1:cysteine dioxygenase type 1 [Gene - OMIM - HGNC]
DCP2:decapping mRNA 2 [Gene - OMIM - HGNC]
EPB41L4A:erythrocyte membrane protein band 4.1 like 4A [Gene - OMIM - HGNC]
FAM170A:family with sequence similarity 170 member A [Gene - OMIM - HGNC]
FEM1C:fem-1 homolog C [Gene - OMIM - HGNC]
FTMT:ferritin mitochondrial [Gene - OMIM - HGNC]
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
LVRN:laeverin [Gene - OMIM - HGNC]
LMNB1:lamin B1 [Gene - OMIM - HGNC]
LINCADL:lincRNA adipogenesis and lipogenesis associated [Gene - HGNC]
LINC01170:long intergenic non-protein coding RNA 1170 [Gene - HGNC]
LINC01957:long intergenic non-protein coding RNA 1957 [Gene - HGNC]
LINC02039:long intergenic non-protein coding RNA 2039 [Gene - HGNC]
LINC02147:long intergenic non-protein coding RNA 2147 [Gene - HGNC]
LINC02148:long intergenic non-protein coding RNA 2148 [Gene - HGNC]
LINC02200:long intergenic non-protein coding RNA 2200 [Gene - HGNC]
LINC02201:long intergenic non-protein coding RNA 2201 [Gene - HGNC]
LINC02208:long intergenic non-protein coding RNA 2208 [Gene - HGNC]
LINC02214:long intergenic non-protein coding RNA 2214 [Gene - HGNC]
LINC02215:long intergenic non-protein coding RNA 2215 [Gene - HGNC]
LINC02216:long intergenic non-protein coding RNA 2216 [Gene - HGNC]
LINC02240:long intergenic non-protein coding RNA 2240 [Gene - HGNC]
LINC00992:long intergenic non-protein coding RNA 992 [Gene - HGNC]
LOX:lysyl oxidase [Gene - OMIM - HGNC]
MARCHF3:membrane associated ring-CH-type finger 3 [Gene - OMIM - HGNC]
MIR12130:microRNA 12130 [Gene - HGNC]
MIR1244-2:microRNA 1244-2 [Gene - HGNC]
MIR5706:microRNA 5706 [Gene - HGNC]
NREP:neuronal regeneration related protein [Gene - OMIM - HGNC]
PPIC:peptidylprolyl isomerase C [Gene - OMIM - HGNC]
PHAX:phosphorylated adaptor for RNA export [Gene - OMIM - HGNC]
KCNN2:potassium calcium-activated channel subfamily N member 2 [Gene - OMIM - HGNC]
PRR16:proline rich 16 [Gene - OMIM - HGNC]
PGGT1B:protein geranylgeranyltransferase type I subunit beta [Gene - OMIM - HGNC]
REEP5:receptor accessory protein 5 [Gene - OMIM - HGNC]
SEMA6A:semaphorin 6A [Gene - OMIM - HGNC]
SRFBP1:serum response factor binding protein 1 [Gene - OMIM - HGNC]
SRP19:signal recognition particle 19 [Gene - OMIM - HGNC]
SNORA13:small nucleolar RNA, H/ACA box 13 [Gene - HGNC]
SNX24:sorting nexin 24 [Gene - HGNC]
SNX2:sorting nexin 2 [Gene - OMIM - HGNC]
SPMIP10:sperm microtubule inner protein 10 [Gene - HGNC]
SNCAIP:synuclein alpha interacting protein [Gene - OMIM - HGNC]
TSSK1B:testis specific serine kinase 1B [Gene - OMIM - HGNC]
TMED7:transmembrane p24 trafficking protein 7 [Gene - OMIM - HGNC]
TRIM36:tripartite motif containing 36 [Gene - OMIM - HGNC]
LOC101927023:uncharacterized LOC101927023 [Gene]
LOC101927078:uncharacterized LOC101927078 [Gene]
LOC101927190:uncharacterized LOC101927190 [Gene]
LOC101927357:uncharacterized LOC101927357 [Gene]
LOC101927421:uncharacterized LOC101927421 [Gene]
LOC101927488:uncharacterized LOC101927488 [Gene]
LOC102467216:uncharacterized LOC102467216 [Gene]
LOC102467217:uncharacterized LOC102467217 [Gene]
LOC102467226:uncharacterized LOC102467226 [Gene]
LOC105379157:uncharacterized LOC105379157 [Gene]
MGC32805:uncharacterized LOC153163 [Gene]
ZNF474:zinc finger protein 474 [Gene - HGNC]
ZNF475:zinc finger protein 475 [Gene - HGNC]
ZNF608:zinc finger protein 608 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

5q22.1-23.2

Genomic location:

Preferred name:

GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1

HGVS:

NC_000005.10:g.(?_111463016)_(127193038_?)del
NC_000005.8:g.(?_110826613)_(126556629_?)del
NC_000005.9:g.(?_110798714)_(126528730_?)del

Links:

dbVar: nssv706227; dbVar: nsv530381

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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lys-63-specific deubiquitinase BRCC36 isoform 1 [Homo sapiens]
lys-63-specific deubiquitinase BRCC36 isoform 1 [Homo sapiens]
gi|13236583|ref|NP_077308.1|

Protein
Homo sapiens cDNA FLJ13849 fis, clone THYRO1000865
Homo sapiens cDNA FLJ13849 fis, clone THYRO1000865
gi|10435992|dbj|AK023911.1|

Nucleotide
Alpova concolor voucher UBC F14673 internal transcribed spacer 1, partial sequen...
Alpova concolor voucher UBC F14673 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|578003597|gb|KF835997.1|

Nucleotide
Alpova cinnamomeus voucher Hayward L8 internal transcribed spacer 1, partial seq...
Alpova cinnamomeus voucher Hayward L8 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|578003599|gb|KF835999.1|

Nucleotide
Apinae sp. voucher IEGEBA-EVO-0278 cytochrome oxidase subunit 1 (COI) gene, part...
Apinae sp. voucher IEGEBA-EVO-0278 cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial
gi|2550529933|gnl|uoguelph|MULAD278 OI-5P|gb|OP034094.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000175423	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Jan 14, 2011)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000175423

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Jan 14, 2011)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000175423.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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