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GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)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:
RCV000050924.7

Allele description

GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1

Genes:
  • LOC129999021:ATAC-STARR-seq lymphoblastoid active region 26410 [Gene]
  • LOC129999022:ATAC-STARR-seq lymphoblastoid active region 26411 [Gene]
  • LOC129999024:ATAC-STARR-seq lymphoblastoid active region 26413 [Gene]
  • LOC129999025:ATAC-STARR-seq lymphoblastoid active region 26414 [Gene]
  • LOC129999026:ATAC-STARR-seq lymphoblastoid active region 26417 [Gene]
  • LOC129999027:ATAC-STARR-seq lymphoblastoid active region 26418 [Gene]
  • LOC129999028:ATAC-STARR-seq lymphoblastoid active region 26419 [Gene]
  • LOC129999029:ATAC-STARR-seq lymphoblastoid active region 26420 [Gene]
  • LOC129999033:ATAC-STARR-seq lymphoblastoid active region 26421 [Gene]
  • LOC129999034:ATAC-STARR-seq lymphoblastoid active region 26422 [Gene]
  • LOC129999035:ATAC-STARR-seq lymphoblastoid active region 26423 [Gene]
  • LOC129999037:ATAC-STARR-seq lymphoblastoid active region 26425 [Gene]
  • LOC129999038:ATAC-STARR-seq lymphoblastoid active region 26426 [Gene]
  • LOC129999040:ATAC-STARR-seq lymphoblastoid active region 26427 [Gene]
  • LOC129999042:ATAC-STARR-seq lymphoblastoid active region 26429 [Gene]
  • LOC129999043:ATAC-STARR-seq lymphoblastoid active region 26430 [Gene]
  • LOC129999044:ATAC-STARR-seq lymphoblastoid active region 26431 [Gene]
  • LOC129999045:ATAC-STARR-seq lymphoblastoid active region 26433 [Gene]
  • LOC129999048:ATAC-STARR-seq lymphoblastoid active region 26434 [Gene]
  • LOC129999049:ATAC-STARR-seq lymphoblastoid active region 26435 [Gene]
  • LOC129999050:ATAC-STARR-seq lymphoblastoid active region 26437 [Gene]
  • LOC129999052:ATAC-STARR-seq lymphoblastoid active region 26438 [Gene]
  • LOC129999053:ATAC-STARR-seq lymphoblastoid active region 26439 [Gene]
  • LOC129999055:ATAC-STARR-seq lymphoblastoid active region 26440 [Gene]
  • LOC129999056:ATAC-STARR-seq lymphoblastoid active region 26441 [Gene]
  • LOC129999057:ATAC-STARR-seq lymphoblastoid active region 26442 [Gene]
  • LOC129999059:ATAC-STARR-seq lymphoblastoid active region 26443 [Gene]
  • LOC129999060:ATAC-STARR-seq lymphoblastoid active region 26444 [Gene]
  • LOC129999061:ATAC-STARR-seq lymphoblastoid active region 26445 [Gene]
  • LOC129999062:ATAC-STARR-seq lymphoblastoid active region 26446 [Gene]
  • LOC129999063:ATAC-STARR-seq lymphoblastoid active region 26447 [Gene]
  • LOC129999064:ATAC-STARR-seq lymphoblastoid active region 26448 [Gene]
  • LOC129999065:ATAC-STARR-seq lymphoblastoid active region 26450 [Gene]
  • LOC129999066:ATAC-STARR-seq lymphoblastoid active region 26451 [Gene]
  • LOC129999067:ATAC-STARR-seq lymphoblastoid active region 26452 [Gene]
  • LOC129999068:ATAC-STARR-seq lymphoblastoid active region 26453 [Gene]
  • LOC129999069:ATAC-STARR-seq lymphoblastoid active region 26454 [Gene]
  • LOC129999071:ATAC-STARR-seq lymphoblastoid active region 26456 [Gene]
  • LOC129999073:ATAC-STARR-seq lymphoblastoid active region 26457 [Gene]
  • LOC129999076:ATAC-STARR-seq lymphoblastoid active region 26458 [Gene]
  • LOC129999077:ATAC-STARR-seq lymphoblastoid active region 26459 [Gene]
  • LOC129999078:ATAC-STARR-seq lymphoblastoid active region 26460 [Gene]
  • LOC129999079:ATAC-STARR-seq lymphoblastoid active region 26461 [Gene]
  • LOC129999086:ATAC-STARR-seq lymphoblastoid active region 26462 [Gene]
  • LOC129999087:ATAC-STARR-seq lymphoblastoid active region 26463 [Gene]
  • LOC129999088:ATAC-STARR-seq lymphoblastoid active region 26466 [Gene]
  • LOC129999089:ATAC-STARR-seq lymphoblastoid active region 26467 [Gene]
  • LOC129999090:ATAC-STARR-seq lymphoblastoid active region 26470 [Gene]
  • LOC129999092:ATAC-STARR-seq lymphoblastoid active region 26471 [Gene]
  • LOC129999093:ATAC-STARR-seq lymphoblastoid active region 26472 [Gene]
  • LOC129999094:ATAC-STARR-seq lymphoblastoid active region 26473 [Gene]
  • LOC129999095:ATAC-STARR-seq lymphoblastoid active region 26474 [Gene]
  • LOC129999096:ATAC-STARR-seq lymphoblastoid active region 26475 [Gene]
  • LOC129999099:ATAC-STARR-seq lymphoblastoid active region 26476 [Gene]
  • LOC129999100:ATAC-STARR-seq lymphoblastoid active region 26477 [Gene]
  • LOC129999102:ATAC-STARR-seq lymphoblastoid active region 26480 [Gene]
  • LOC129999103:ATAC-STARR-seq lymphoblastoid active region 26481 [Gene]
  • LOC129999104:ATAC-STARR-seq lymphoblastoid active region 26482 [Gene]
  • LOC129999107:ATAC-STARR-seq lymphoblastoid active region 26483 [Gene]
  • LOC129999112:ATAC-STARR-seq lymphoblastoid active region 26485 [Gene]
  • LOC129999113:ATAC-STARR-seq lymphoblastoid active region 26486 [Gene]
  • LOC129999114:ATAC-STARR-seq lymphoblastoid active region 26487 [Gene]
  • LOC129999116:ATAC-STARR-seq lymphoblastoid active region 26488 [Gene]
  • LOC129999117:ATAC-STARR-seq lymphoblastoid active region 26489 [Gene]
  • LOC129999118:ATAC-STARR-seq lymphoblastoid active region 26490 [Gene]
  • LOC129999123:ATAC-STARR-seq lymphoblastoid active region 26493 [Gene]
  • LOC129999124:ATAC-STARR-seq lymphoblastoid active region 26494 [Gene]
  • LOC129999125:ATAC-STARR-seq lymphoblastoid active region 26495 [Gene]
  • LOC129999126:ATAC-STARR-seq lymphoblastoid active region 26496 [Gene]
  • LOC129999127:ATAC-STARR-seq lymphoblastoid active region 26499 [Gene]
  • LOC129999128:ATAC-STARR-seq lymphoblastoid active region 26503 [Gene]
  • LOC129999129:ATAC-STARR-seq lymphoblastoid active region 26505 [Gene]
  • LOC129999130:ATAC-STARR-seq lymphoblastoid active region 26506 [Gene]
  • LOC129999131:ATAC-STARR-seq lymphoblastoid active region 26507 [Gene]
  • LOC129999133:ATAC-STARR-seq lymphoblastoid active region 26508 [Gene]
  • LOC129999134:ATAC-STARR-seq lymphoblastoid active region 26509 [Gene]
  • LOC129999136:ATAC-STARR-seq lymphoblastoid active region 26510 [Gene]
  • LOC129999015:ATAC-STARR-seq lymphoblastoid silent region 18489 [Gene]
  • LOC129999016:ATAC-STARR-seq lymphoblastoid silent region 18490 [Gene]
  • LOC129999017:ATAC-STARR-seq lymphoblastoid silent region 18493 [Gene]
  • LOC129999018:ATAC-STARR-seq lymphoblastoid silent region 18494 [Gene]
  • LOC129999019:ATAC-STARR-seq lymphoblastoid silent region 18495 [Gene]
  • LOC129999020:ATAC-STARR-seq lymphoblastoid silent region 18496 [Gene]
  • LOC129999023:ATAC-STARR-seq lymphoblastoid silent region 18497 [Gene]
  • LOC129999030:ATAC-STARR-seq lymphoblastoid silent region 18498 [Gene]
  • LOC129999031:ATAC-STARR-seq lymphoblastoid silent region 18499 [Gene]
  • LOC129999032:ATAC-STARR-seq lymphoblastoid silent region 18500 [Gene]
  • LOC129999036:ATAC-STARR-seq lymphoblastoid silent region 18501 [Gene]
  • LOC129999039:ATAC-STARR-seq lymphoblastoid silent region 18502 [Gene]
  • LOC129999041:ATAC-STARR-seq lymphoblastoid silent region 18503 [Gene]
  • LOC129999046:ATAC-STARR-seq lymphoblastoid silent region 18504 [Gene]
  • LOC129999047:ATAC-STARR-seq lymphoblastoid silent region 18505 [Gene]
  • LOC129999051:ATAC-STARR-seq lymphoblastoid silent region 18509 [Gene]
  • LOC129999054:ATAC-STARR-seq lymphoblastoid silent region 18510 [Gene]
  • LOC129999058:ATAC-STARR-seq lymphoblastoid silent region 18511 [Gene]
  • LOC129999070:ATAC-STARR-seq lymphoblastoid silent region 18512 [Gene]
  • LOC129999072:ATAC-STARR-seq lymphoblastoid silent region 18513 [Gene]
  • LOC129999074:ATAC-STARR-seq lymphoblastoid silent region 18514 [Gene]
  • LOC129999075:ATAC-STARR-seq lymphoblastoid silent region 18515 [Gene]
  • LOC129999080:ATAC-STARR-seq lymphoblastoid silent region 18516 [Gene]
  • LOC129999081:ATAC-STARR-seq lymphoblastoid silent region 18517 [Gene]
  • LOC129999082:ATAC-STARR-seq lymphoblastoid silent region 18518 [Gene]
  • LOC129999083:ATAC-STARR-seq lymphoblastoid silent region 18519 [Gene]
  • LOC129999084:ATAC-STARR-seq lymphoblastoid silent region 18520 [Gene]
  • LOC129999085:ATAC-STARR-seq lymphoblastoid silent region 18521 [Gene]
  • LOC129999091:ATAC-STARR-seq lymphoblastoid silent region 18523 [Gene]
  • LOC129999097:ATAC-STARR-seq lymphoblastoid silent region 18524 [Gene]
  • LOC129999098:ATAC-STARR-seq lymphoblastoid silent region 18525 [Gene]
  • LOC129999101:ATAC-STARR-seq lymphoblastoid silent region 18526 [Gene]
  • LOC129999105:ATAC-STARR-seq lymphoblastoid silent region 18529 [Gene]
  • LOC129999106:ATAC-STARR-seq lymphoblastoid silent region 18530 [Gene]
  • LOC129999108:ATAC-STARR-seq lymphoblastoid silent region 18531 [Gene]
  • LOC129999109:ATAC-STARR-seq lymphoblastoid silent region 18532 [Gene]
  • LOC129999110:ATAC-STARR-seq lymphoblastoid silent region 18533 [Gene]
  • LOC129999111:ATAC-STARR-seq lymphoblastoid silent region 18534 [Gene]
  • LOC129999115:ATAC-STARR-seq lymphoblastoid silent region 18535 [Gene]
  • LOC129999119:ATAC-STARR-seq lymphoblastoid silent region 18537 [Gene]
  • LOC129999120:ATAC-STARR-seq lymphoblastoid silent region 18538 [Gene]
  • LOC129999121:ATAC-STARR-seq lymphoblastoid silent region 18539 [Gene]
  • LOC129999122:ATAC-STARR-seq lymphoblastoid silent region 18540 [Gene]
  • LOC129999132:ATAC-STARR-seq lymphoblastoid silent region 18543 [Gene]
  • LOC129999135:ATAC-STARR-seq lymphoblastoid silent region 18544 [Gene]
  • BCAP29:B cell receptor associated protein 29 [Gene - OMIM - HGNC]
  • LOC126860130:BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 [Gene]
  • LOC126860133:BRD4-independent group 4 enhancer GRCh37_chr7:103916337-103917536 [Gene]
  • LOC126860135:BRD4-independent group 4 enhancer GRCh37_chr7:104190573-104191772 [Gene]
  • LOC126860152:BRD4-independent group 4 enhancer GRCh37_chr7:111397974-111399173 [Gene]
  • LOC126860153:BRD4-independent group 4 enhancer GRCh37_chr7:111507301-111508500 [Gene]
  • CBLL1-AS1:CBLL1 antisense RNA 1 [Gene - HGNC]
  • LOC123956195:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:101630224-101631423 [Gene]
  • LOC126860127:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:101841732-101842931 [Gene]
  • LOC126860137:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:105416274-105417473 [Gene]
  • LOC126860141:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:106065201-106066400 [Gene]
  • LOC126860145:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:106792322-106793521 [Gene]
  • LOC126860149:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:108465150-108466349 [Gene]
  • LOC116183096:CRISPRi-validated cis-regulatory element chr7.3907 [Gene]
  • LOC116186904:CRISPRi-validated cis-regulatory element chr7.4040 [Gene]
  • LOC116186905:CRISPRi-validated cis-regulatory element chr7.4041 [Gene]
  • LOC116186906:CRISPRi-validated cis-regulatory element chr7.4042 [Gene]
  • LOC116186907:CRISPRi-validated cis-regulatory element chr7.4045 [Gene]
  • LOC116186908:CRISPRi-validated cis-regulatory element chr7.4046 [Gene]
  • LOC116186909:CRISPRi-validated cis-regulatory element chr7.4048 [Gene]
  • LOC116186910:CRISPRi-validated cis-regulatory element chr7.4050 [Gene]
  • CBLL1:Cbl proto-oncogene like 1 [Gene - OMIM - HGNC]
  • DOCK4-AS1:DOCK4 antisense RNA 1 [Gene - HGNC]
  • DUS4L-BCAP29:DUS4L-BCAP29 readthrough [Gene - HGNC]
  • DNAJB9:DnaJ heat shock protein family (Hsp40) member B9 [Gene - OMIM - HGNC]
  • DNAJC2:DnaJ heat shock protein family (Hsp40) member C2 [Gene - OMIM - HGNC]
  • EFCAB10:EF-hand calcium binding domain 10 [Gene - HGNC]
  • EFCAB10-AS1:EFCAB10 antisense RNA 1 [Gene - HGNC]
  • FBXL13:F-box and leucine rich repeat protein 13 [Gene - OMIM - HGNC]
  • GPR22:G protein-coupled receptor 22 [Gene - OMIM - HGNC]
  • LOC111591504:GFI1 motif-containing MPRA enhancer 278 [Gene]
  • HBP1:HMG-box transcription factor 1 [Gene - OMIM - HGNC]
  • KMT2E-AS1:KMT2E antisense RNA 1 [Gene - HGNC]
  • LHFPL3:LHFPL tetraspan subfamily member 3 [Gene - OMIM - HGNC]
  • LHFPL3-AS1:LHFPL3 antisense RNA 1 [Gene - HGNC]
  • LHFPL3-AS2:LHFPL3 antisense RNA 2 [Gene - HGNC]
  • LOC100630923:LOC100289561-PRKRIP1 readthrough [Gene]
  • LOC111776221:MED14-independent group 3 enhancer GRCh37_chr7:101595769-101596968 [Gene]
  • LOC126860129:MED14-independent group 3 enhancer GRCh37_chr7:102613398-102614597 [Gene]
  • LOC126860131:MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 [Gene]
  • LOC126860134:MED14-independent group 3 enhancer GRCh37_chr7:104169841-104171040 [Gene]
  • LOC126860136:MED14-independent group 3 enhancer GRCh37_chr7:105288629-105289828 [Gene]
  • LOC126860138:MED14-independent group 3 enhancer GRCh37_chr7:105434917-105436116 [Gene]
  • LOC126860139:MED14-independent group 3 enhancer GRCh37_chr7:105960332-105961531 [Gene]
  • LOC126860142:MED14-independent group 3 enhancer GRCh37_chr7:106089346-106090545 [Gene]
  • LOC126860151:MED14-independent group 3 enhancer GRCh37_chr7:110174022-110175221 [Gene]
  • LOC129389832:MPRA-validated peak6667 silencer [Gene]
  • LOC129389833:MPRA-validated peak6672 silencer [Gene]
  • LOC129389834:MPRA-validated peak6673 silencer [Gene]
  • LOC129389835:MPRA-validated peak6674 silencer [Gene]
  • LOC129389836:MPRA-validated peak6675 silencer [Gene]
  • LOC129389837:MPRA-validated peak6677 silencer [Gene]
  • LOC129389838:MPRA-validated peak6680 silencer [Gene]
  • LOC129389839:MPRA-validated peak6681 silencer [Gene]
  • LOC129389840:MPRA-validated peak6682 silencer [Gene]
  • LOC129389841:MPRA-validated peak6683 silencer [Gene]
  • LOC129389842:MPRA-validated peak6684 silencer [Gene]
  • LOC129389843:MPRA-validated peak6685 silencer [Gene]
  • LOC129389844:MPRA-validated peak6687 silencer [Gene]
  • LOC129389845:MPRA-validated peak6688 silencer [Gene]
  • LOC129389846:MPRA-validated peak6689 silencer [Gene]
  • NAPEPLD:N-acyl phosphatidylethanolamine phospholipase D [Gene - OMIM - HGNC]
  • NAMPT-AS1:NAMPT antisense RNA 1 [Gene - HGNC]
  • ORAI2:ORAI calcium release-activated calcium modulator 2 [Gene - OMIM - HGNC]
  • LOC126860126:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:101740358-101741557 [Gene]
  • LOC126860128:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 [Gene]
  • LOC113687181:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102631963-102633162 [Gene]
  • LOC126860132:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:103904410-103905609 [Gene]
  • LOC121175359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:105470396-105471595 [Gene]
  • LOC126860140:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:105986583-105987782 [Gene]
  • LOC126860143:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:106358550-106359749 [Gene]
  • LOC126860144:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:106415535-106416734 [Gene]
  • LOC126860146:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107204943-107206142 [Gene]
  • LOC126860147:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107851545-107852744 [Gene]
  • LOC126860148:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:107886326-107887525 [Gene]
  • LOC126860150:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:109287079-109288278 [Gene]
  • POLR2J2-UPK3BL1:POLR2J2-UPK3BL1 readthrough [Gene]
  • POLR2J3-UPK3BL2:POLR2J3-UPK3BL2 readthrough [Gene]
  • PRKAR2B-AS1:PRKAR2B antisense RNA 1 [Gene - HGNC]
  • PRKRIP1:PRKR interacting protein 1 [Gene - OMIM - HGNC]
  • RINT1:RAD50 interactor 1 [Gene - OMIM - HGNC]
  • RASA4:RAS p21 protein activator 4 [Gene - OMIM - HGNC]
  • RASA4B:RAS p21 protein activator 4B [Gene - HGNC]
  • POLR2J2:RNA polymerase II subunit J2 [Gene - OMIM - HGNC]
  • POLR2J3:RNA polymerase II subunit J3 [Gene - HGNC]
  • POLR2J:RNA polymerase II subunit J [Gene - OMIM - HGNC]
  • SH2B2:SH2B adaptor protein 2 [Gene - OMIM - HGNC]
  • SLC26A4-AS1:SLC26A4 antisense RNA 1 [Gene - HGNC]
  • SLC26A5-AS1:SLC26A5 antisense RNA 1 [Gene - HGNC]
  • SRPK2:SRSF protein kinase 2 [Gene - OMIM - HGNC]
  • LOC123956199:Sharpr-MPRA regulatory region 10264 [Gene]
  • LOC121175357:Sharpr-MPRA regulatory region 11588 [Gene]
  • LOC113687187:Sharpr-MPRA regulatory region 11752 [Gene]
  • LOC123956208:Sharpr-MPRA regulatory region 12069 [Gene]
  • LOC123956206:Sharpr-MPRA regulatory region 12136 [Gene]
  • LOC113687183:Sharpr-MPRA regulatory region 12225 [Gene]
  • LOC123956201:Sharpr-MPRA regulatory region 1232 [Gene]
  • LOC121175360:Sharpr-MPRA regulatory region 14293 [Gene]
  • LOC113687185:Sharpr-MPRA regulatory region 14344 [Gene]
  • LOC114004406:Sharpr-MPRA regulatory region 14594 [Gene]
  • LOC123956202:Sharpr-MPRA regulatory region 14983 [Gene]
  • LOC123956200:Sharpr-MPRA regulatory region 15155 [Gene]
  • LOC123956211:Sharpr-MPRA regulatory region 15683 [Gene]
  • LOC123956196:Sharpr-MPRA regulatory region 1808 [Gene]
  • LOC113687180:Sharpr-MPRA regulatory region 2028 [Gene]
  • LOC121175356:Sharpr-MPRA regulatory region 3063 [Gene]
  • LOC121740693:Sharpr-MPRA regulatory region 3260 [Gene]
  • LOC123956210:Sharpr-MPRA regulatory region 3291 [Gene]
  • LOC123956194:Sharpr-MPRA regulatory region 4286 [Gene]
  • LOC121175358:Sharpr-MPRA regulatory region 5075 [Gene]
  • LOC123956209:Sharpr-MPRA regulatory region 6605 [Gene]
  • LOC113687184:Sharpr-MPRA regulatory region 6701 [Gene]
  • LOC123956193:Sharpr-MPRA regulatory region 716 [Gene]
  • LOC123956203:Sharpr-MPRA regulatory region 7350 [Gene]
  • LOC123956198:Sharpr-MPRA regulatory region 7515 [Gene]
  • LOC123956207:Sharpr-MPRA regulatory region 8060 [Gene]
  • LOC113687182:Sharpr-MPRA regulatory region 8680 [Gene]
  • LOC123956204:Sharpr-MPRA regulatory region 8747 [Gene]
  • LOC123956205:Sharpr-MPRA regulatory region 9048 [Gene]
  • LOC123956197:Sharpr-MPRA regulatory region 9959 [Gene]
  • THAP5:THAP domain containing 5 [Gene - OMIM - HGNC]
  • LOC110121254:VISTA enhancer hs2081 [Gene]
  • ZNF277-AS1:ZNF277 antisense RNA 1 [Gene - HGNC]
  • ALKBH4:alkB homolog 4, lysine demethylase [Gene - OMIM - HGNC]
  • ARMC10:armadillo repeat containing 10 [Gene - OMIM - HGNC]
  • ATXN7L1:ataxin 7 like 1 [Gene - HGNC]
  • CDHR3:cadherin related family member 3 [Gene - OMIM - HGNC]
  • CCDC71L:coiled-coil domain containing 71 like [Gene - HGNC]
  • COG5:component of oligomeric golgi complex 5 [Gene - OMIM - HGNC]
  • CUX1:cut like homeobox 1 [Gene - OMIM - HGNC]
  • DOCK4:dedicator of cytokinesis 4 [Gene - OMIM - HGNC]
  • DLD:dihydrolipoamide dehydrogenase [Gene - OMIM - HGNC]
  • DUS4L:dihydrouridine synthase 4 like [Gene - HGNC]
  • FAM185A:family with sequence similarity 185 member A [Gene - HGNC]
  • IMMP2L:inner mitochondrial membrane peptidase subunit 2 [Gene - OMIM - HGNC]
  • LAMB1:laminin subunit beta 1 [Gene - OMIM - HGNC]
  • LAMB4:laminin subunit beta 4 [Gene - OMIM - HGNC]
  • LRRC17:leucine rich repeat containing 17 [Gene - OMIM - HGNC]
  • LRRN3:leucine rich repeat neuronal 3 [Gene - OMIM - HGNC]
  • LRWD1:leucine rich repeats and WD repeat domain containing 1 [Gene - OMIM - HGNC]
  • LINC01004:long intergenic non-protein coding RNA 1004 [Gene - HGNC]
  • LINC02577:long intergenic non-protein coding RNA 2577 [Gene - HGNC]
  • LINC02903:long intergenic non-protein coding RNA 2903 [Gene - HGNC]
  • KMT2E:lysine methyltransferase 2E (inactive) [Gene - OMIM - HGNC]
  • MIR4285:microRNA 4285 [Gene - HGNC]
  • MIR4467:microRNA 4467 [Gene - HGNC]
  • MIR5090:microRNA 5090 [Gene - HGNC]
  • MIR548O:microRNA 548o [Gene - HGNC]
  • NRCAM:neuronal cell adhesion molecule [Gene - OMIM - HGNC]
  • NAMPT:nicotinamide phosphoribosyltransferase [Gene - OMIM - HGNC]
  • NFE4:nuclear factor, erythroid 4 [Gene - OMIM - HGNC]
  • ORC5:origin recognition complex subunit 5 [Gene - OMIM - HGNC]
  • PNPLA8:patatin like phospholipase domain containing 8 [Gene - OMIM - HGNC]
  • PMPCB:peptidase, mitochondrial processing subunit beta [Gene - OMIM - HGNC]
  • PIK3CG:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma [Gene - OMIM - HGNC]
  • PSMC2:proteasome 26S subunit, ATPase 2 [Gene - OMIM - HGNC]
  • PRKAR2B:protein kinase cAMP-dependent type II regulatory subunit beta [Gene - OMIM - HGNC]
  • PUS7:pseudouridine synthase 7 [Gene - OMIM - HGNC]
  • RELN:reelin [Gene - OMIM - HGNC]
  • SLC26A3:solute carrier family 26 member 3 [Gene - OMIM - HGNC]
  • SLC26A4:solute carrier family 26 member 4 [Gene - OMIM - HGNC]
  • SLC26A5:solute carrier family 26 member 5 [Gene - OMIM - HGNC]
  • SPDYE2:speedy/RINGO cell cycle regulator family member E2 [Gene - OMIM - HGNC]
  • SPDYE2B:speedy/RINGO cell cycle regulator family member E2B [Gene - HGNC]
  • SPDYE6:speedy/RINGO cell cycle regulator family member E6 [Gene - HGNC]
  • SYPL1:synaptophysin like 1 [Gene - OMIM - HGNC]
  • CTB-30L5.1:uncharacterized CTB-30L5.1 [Gene]
  • LOC101927902:uncharacterized LOC101927902 [Gene]
  • LOC105375448:uncharacterized LOC105375448 [Gene]
  • UPK3BL1:uroplakin 3B like 1 [Gene - HGNC]
  • UPK3BL2:uroplakin 3B like 2 [Gene - HGNC]
  • ZNF277:zinc finger protein 277 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
7q22.1-31.1
Genomic location:
Preferred name:
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1
HGVS:
  • NC_000007.14:g.(?_101807149)_(112414850_?)del
  • NC_000007.12:g.(?_101237149)_(111842141_?)del
  • NC_000007.13:g.(?_101450429)_(112054905_?)del
Links:
dbVar: nssv578206; dbVar: nsv529500
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000078257ISCA site 4

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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]

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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 ISCA site 4, SCV000078257.5

#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