GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 18, 2014
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:: RCV000142297.4

Allele description

GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1

Genes:

AEBP1:AE binding protein 1 [Gene - OMIM - HGNC]
LOC129998270:ATAC-STARR-seq lymphoblastoid active region 25865 [Gene]
LOC129998271:ATAC-STARR-seq lymphoblastoid active region 25866 [Gene]
LOC129998273:ATAC-STARR-seq lymphoblastoid active region 25867 [Gene]
LOC129998274:ATAC-STARR-seq lymphoblastoid active region 25868 [Gene]
LOC129998275:ATAC-STARR-seq lymphoblastoid active region 25869 [Gene]
LOC129998276:ATAC-STARR-seq lymphoblastoid active region 25870 [Gene]
LOC129998277:ATAC-STARR-seq lymphoblastoid active region 25871 [Gene]
LOC129998278:ATAC-STARR-seq lymphoblastoid active region 25872 [Gene]
LOC129998279:ATAC-STARR-seq lymphoblastoid active region 25873 [Gene]
LOC129998280:ATAC-STARR-seq lymphoblastoid active region 25874 [Gene]
LOC129998281:ATAC-STARR-seq lymphoblastoid active region 25875 [Gene]
LOC129998282:ATAC-STARR-seq lymphoblastoid active region 25876 [Gene]
LOC129998283:ATAC-STARR-seq lymphoblastoid active region 25877 [Gene]
LOC129998284:ATAC-STARR-seq lymphoblastoid active region 25878 [Gene]
LOC129998287:ATAC-STARR-seq lymphoblastoid active region 25879 [Gene]
LOC129998288:ATAC-STARR-seq lymphoblastoid active region 25880 [Gene]
LOC129998289:ATAC-STARR-seq lymphoblastoid active region 25881 [Gene]
LOC129998290:ATAC-STARR-seq lymphoblastoid active region 25882 [Gene]
LOC129998291:ATAC-STARR-seq lymphoblastoid active region 25884 [Gene]
LOC129998294:ATAC-STARR-seq lymphoblastoid active region 25889 [Gene]
LOC129998296:ATAC-STARR-seq lymphoblastoid active region 25890 [Gene]
LOC129998298:ATAC-STARR-seq lymphoblastoid active region 25891 [Gene]
LOC129998299:ATAC-STARR-seq lymphoblastoid active region 25892 [Gene]
LOC129998300:ATAC-STARR-seq lymphoblastoid active region 25894 [Gene]
LOC129998301:ATAC-STARR-seq lymphoblastoid active region 25895 [Gene]
LOC129998303:ATAC-STARR-seq lymphoblastoid active region 25896 [Gene]
LOC129998304:ATAC-STARR-seq lymphoblastoid active region 25897 [Gene]
LOC129998305:ATAC-STARR-seq lymphoblastoid active region 25898 [Gene]
LOC129998306:ATAC-STARR-seq lymphoblastoid active region 25899 [Gene]
LOC129998307:ATAC-STARR-seq lymphoblastoid active region 25900 [Gene]
LOC129998308:ATAC-STARR-seq lymphoblastoid active region 25901 [Gene]
LOC129998310:ATAC-STARR-seq lymphoblastoid active region 25904 [Gene]
LOC129998311:ATAC-STARR-seq lymphoblastoid active region 25905 [Gene]
LOC129998312:ATAC-STARR-seq lymphoblastoid active region 25906 [Gene]
LOC129998313:ATAC-STARR-seq lymphoblastoid active region 25907 [Gene]
LOC129998314:ATAC-STARR-seq lymphoblastoid active region 25908 [Gene]
LOC129998317:ATAC-STARR-seq lymphoblastoid active region 25909 [Gene]
LOC129998318:ATAC-STARR-seq lymphoblastoid active region 25910 [Gene]
LOC129998319:ATAC-STARR-seq lymphoblastoid active region 25911 [Gene]
LOC129998320:ATAC-STARR-seq lymphoblastoid active region 25913 [Gene]
LOC129998322:ATAC-STARR-seq lymphoblastoid active region 25915 [Gene]
LOC129998323:ATAC-STARR-seq lymphoblastoid active region 25916 [Gene]
LOC129998326:ATAC-STARR-seq lymphoblastoid active region 25917 [Gene]
LOC129998327:ATAC-STARR-seq lymphoblastoid active region 25918 [Gene]
LOC129998331:ATAC-STARR-seq lymphoblastoid active region 25921 [Gene]
LOC129998340:ATAC-STARR-seq lymphoblastoid active region 25923 [Gene]
LOC129998341:ATAC-STARR-seq lymphoblastoid active region 25924 [Gene]
LOC129998342:ATAC-STARR-seq lymphoblastoid active region 25925 [Gene]
LOC129998343:ATAC-STARR-seq lymphoblastoid active region 25926 [Gene]
LOC129998345:ATAC-STARR-seq lymphoblastoid active region 25927 [Gene]
LOC129998346:ATAC-STARR-seq lymphoblastoid active region 25928 [Gene]
LOC129998347:ATAC-STARR-seq lymphoblastoid active region 25929 [Gene]
LOC129998348:ATAC-STARR-seq lymphoblastoid active region 25930 [Gene]
LOC129998349:ATAC-STARR-seq lymphoblastoid active region 25931 [Gene]
LOC129998351:ATAC-STARR-seq lymphoblastoid active region 25933 [Gene]
LOC129998352:ATAC-STARR-seq lymphoblastoid active region 25934 [Gene]
LOC129998353:ATAC-STARR-seq lymphoblastoid active region 25935 [Gene]
LOC129998354:ATAC-STARR-seq lymphoblastoid active region 25936 [Gene]
LOC129998355:ATAC-STARR-seq lymphoblastoid active region 25937 [Gene]
LOC129998356:ATAC-STARR-seq lymphoblastoid active region 25938 [Gene]
LOC129998357:ATAC-STARR-seq lymphoblastoid active region 25939 [Gene]
LOC129998358:ATAC-STARR-seq lymphoblastoid active region 25940 [Gene]
LOC129998360:ATAC-STARR-seq lymphoblastoid active region 25941 [Gene]
LOC129998361:ATAC-STARR-seq lymphoblastoid active region 25942 [Gene]
LOC129998364:ATAC-STARR-seq lymphoblastoid active region 25943 [Gene]
LOC129998365:ATAC-STARR-seq lymphoblastoid active region 25944 [Gene]
LOC129998366:ATAC-STARR-seq lymphoblastoid active region 25945 [Gene]
LOC129998368:ATAC-STARR-seq lymphoblastoid active region 25947 [Gene]
LOC129998370:ATAC-STARR-seq lymphoblastoid active region 25948 [Gene]
LOC129998371:ATAC-STARR-seq lymphoblastoid active region 25949 [Gene]
LOC129998372:ATAC-STARR-seq lymphoblastoid active region 25951 [Gene]
LOC129998373:ATAC-STARR-seq lymphoblastoid active region 25952 [Gene]
LOC129998374:ATAC-STARR-seq lymphoblastoid active region 25953 [Gene]
LOC129998378:ATAC-STARR-seq lymphoblastoid active region 25954 [Gene]
LOC129998382:ATAC-STARR-seq lymphoblastoid active region 25956 [Gene]
LOC129998383:ATAC-STARR-seq lymphoblastoid active region 25957 [Gene]
LOC129998384:ATAC-STARR-seq lymphoblastoid active region 25958 [Gene]
LOC129998387:ATAC-STARR-seq lymphoblastoid active region 25959 [Gene]
LOC129998388:ATAC-STARR-seq lymphoblastoid active region 25960 [Gene]
LOC129998389:ATAC-STARR-seq lymphoblastoid active region 25961 [Gene]
LOC129998390:ATAC-STARR-seq lymphoblastoid active region 25963 [Gene]
LOC129998391:ATAC-STARR-seq lymphoblastoid active region 25964 [Gene]
LOC129998392:ATAC-STARR-seq lymphoblastoid active region 25965 [Gene]
LOC129998393:ATAC-STARR-seq lymphoblastoid active region 25966 [Gene]
LOC129998397:ATAC-STARR-seq lymphoblastoid active region 25967 [Gene]
LOC129998398:ATAC-STARR-seq lymphoblastoid active region 25968 [Gene]
LOC129998400:ATAC-STARR-seq lymphoblastoid active region 25970 [Gene]
LOC129998401:ATAC-STARR-seq lymphoblastoid active region 25971 [Gene]
LOC129998269:ATAC-STARR-seq lymphoblastoid silent region 18109 [Gene]
LOC129998272:ATAC-STARR-seq lymphoblastoid silent region 18110 [Gene]
LOC129998285:ATAC-STARR-seq lymphoblastoid silent region 18111 [Gene]
LOC129998286:ATAC-STARR-seq lymphoblastoid silent region 18113 [Gene]
LOC129998292:ATAC-STARR-seq lymphoblastoid silent region 18115 [Gene]
LOC129998293:ATAC-STARR-seq lymphoblastoid silent region 18116 [Gene]
LOC129998295:ATAC-STARR-seq lymphoblastoid silent region 18117 [Gene]
LOC129998297:ATAC-STARR-seq lymphoblastoid silent region 18118 [Gene]
LOC129998302:ATAC-STARR-seq lymphoblastoid silent region 18119 [Gene]
LOC129998309:ATAC-STARR-seq lymphoblastoid silent region 18120 [Gene]
LOC129998315:ATAC-STARR-seq lymphoblastoid silent region 18123 [Gene]
LOC129998316:ATAC-STARR-seq lymphoblastoid silent region 18124 [Gene]
LOC129998321:ATAC-STARR-seq lymphoblastoid silent region 18125 [Gene]
LOC129998324:ATAC-STARR-seq lymphoblastoid silent region 18126 [Gene]
LOC129998325:ATAC-STARR-seq lymphoblastoid silent region 18127 [Gene]
LOC129998328:ATAC-STARR-seq lymphoblastoid silent region 18128 [Gene]
LOC129998329:ATAC-STARR-seq lymphoblastoid silent region 18129 [Gene]
LOC129998330:ATAC-STARR-seq lymphoblastoid silent region 18130 [Gene]
LOC129998332:ATAC-STARR-seq lymphoblastoid silent region 18131 [Gene]
LOC129998333:ATAC-STARR-seq lymphoblastoid silent region 18132 [Gene]
LOC129998334:ATAC-STARR-seq lymphoblastoid silent region 18133 [Gene]
LOC129998335:ATAC-STARR-seq lymphoblastoid silent region 18134 [Gene]
LOC129998336:ATAC-STARR-seq lymphoblastoid silent region 18135 [Gene]
LOC129998337:ATAC-STARR-seq lymphoblastoid silent region 18136 [Gene]
LOC129998338:ATAC-STARR-seq lymphoblastoid silent region 18137 [Gene]
LOC129998339:ATAC-STARR-seq lymphoblastoid silent region 18138 [Gene]
LOC129998344:ATAC-STARR-seq lymphoblastoid silent region 18140 [Gene]
LOC129998350:ATAC-STARR-seq lymphoblastoid silent region 18143 [Gene]
LOC129998359:ATAC-STARR-seq lymphoblastoid silent region 18144 [Gene]
LOC129998362:ATAC-STARR-seq lymphoblastoid silent region 18145 [Gene]
LOC129998363:ATAC-STARR-seq lymphoblastoid silent region 18146 [Gene]
LOC129998367:ATAC-STARR-seq lymphoblastoid silent region 18147 [Gene]
LOC129998369:ATAC-STARR-seq lymphoblastoid silent region 18148 [Gene]
LOC129998375:ATAC-STARR-seq lymphoblastoid silent region 18149 [Gene]
LOC129998376:ATAC-STARR-seq lymphoblastoid silent region 18150 [Gene]
LOC129998377:ATAC-STARR-seq lymphoblastoid silent region 18151 [Gene]
LOC129998379:ATAC-STARR-seq lymphoblastoid silent region 18152 [Gene]
LOC129998380:ATAC-STARR-seq lymphoblastoid silent region 18153 [Gene]
LOC129998381:ATAC-STARR-seq lymphoblastoid silent region 18154 [Gene]
LOC129998385:ATAC-STARR-seq lymphoblastoid silent region 18159 [Gene]
LOC129998386:ATAC-STARR-seq lymphoblastoid silent region 18160 [Gene]
LOC129998394:ATAC-STARR-seq lymphoblastoid silent region 18161 [Gene]
LOC129998395:ATAC-STARR-seq lymphoblastoid silent region 18162 [Gene]
LOC129998396:ATAC-STARR-seq lymphoblastoid silent region 18163 [Gene]
LOC129998399:ATAC-STARR-seq lymphoblastoid silent region 18164 [Gene]
LOC126860008:BRD4-independent group 4 enhancer GRCh37_chr7:40924401-40925600 [Gene]
LOC126860018:BRD4-independent group 4 enhancer GRCh37_chr7:43157882-43159081 [Gene]
CCM2:CCM2 scaffold protein [Gene - OMIM - HGNC]
CDK13-DT:CDK13 divergent transcript [Gene - HGNC]
LOC126860002:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:38989846-38991045 [Gene]
LOC126860003:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:39547614-39548813 [Gene]
LOC126860005:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:40186973-40188172 [Gene]
LOC126860014:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:41748736-41749935 [Gene]
LOC126860017:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:42789414-42790613 [Gene]
LOC116183089:CRISPRi-validated cis-regulatory element chr7.1855 [Gene]
DDX56:DEAD-box helicase 56 [Gene - OMIM - HGNC]
POLD2:DNA polymerase delta 2, accessory subunit [Gene - OMIM - HGNC]
POLM:DNA polymerase mu [Gene - OMIM - HGNC]
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
H2AZ2:H2A.Z variant histone 2 [Gene - OMIM - HGNC]
H2AZ2-DT:H2AZ2 divergent transcript [Gene - HGNC]
HECW1:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
HECW1-IT1:HECW1 intronic transcript 1 [Gene - HGNC]
INHBA-AS1:INHBA antisense RNA 1 [Gene - HGNC]
MPLKIP:M-phase specific PLK1 interacting protein [Gene - OMIM - HGNC]
LOC126860006:MED14-independent group 3 enhancer GRCh37_chr7:40750799-40751998 [Gene]
LOC126860007:MED14-independent group 3 enhancer GRCh37_chr7:40756566-40757765 [Gene]
LOC126860009:MED14-independent group 3 enhancer GRCh37_chr7:41045810-41047009 [Gene]
LOC126860011:MED14-independent group 3 enhancer GRCh37_chr7:41104940-41106139 [Gene]
LOC126860013:MED14-independent group 3 enhancer GRCh37_chr7:41665014-41666213 [Gene]
LOC126860015:MED14-independent group 3 enhancer GRCh37_chr7:42410696-42411895 [Gene]
LOC126860019:MED14-independent group 3 enhancer GRCh37_chr7:43593671-43594870 [Gene]
LOC126860020:MED14-independent group 3 enhancer GRCh37_chr7:43616728-43617927 [Gene]
LOC129389785:MPRA-validated peak6494 silencer [Gene]
LOC129389786:MPRA-validated peak6495 silencer [Gene]
LOC129389787:MPRA-validated peak6496 silencer [Gene]
LOC129389788:MPRA-validated peak6497 silencer [Gene]
LOC129389789:MPRA-validated peak6500 silencer [Gene]
NACAD:NAC alpha domain containing [Gene - OMIM - HGNC]
LOC111591501:NFE2L2 motif-containing MPRA enhancer 272 [Gene]
NPC1L1:NPC1 like intracellular cholesterol transporter 1 [Gene - OMIM - HGNC]
LOC132089526:Neanderthal introgressed variant-containing enhancer experimental_98536 [Gene]
LOC132089527:Neanderthal introgressed variant-containing enhancer experimental_98538 [Gene]
LOC132089528:Neanderthal introgressed variant-containing enhancer experimental_98545 [Gene]
LOC132089529:Neanderthal introgressed variant-containing enhancer experimental_98547 [Gene]
LOC132089530:Neanderthal introgressed variant-containing enhancer experimental_98548 [Gene]
LOC132089531:Neanderthal introgressed variant-containing enhancer experimental_98550 [Gene]
LOC132090777:Neanderthal introgressed variant-containing enhancer experimental_98556 [Gene]
LOC132089532:Neanderthal introgressed variant-containing enhancer experimental_98558 [Gene]
LOC132089533:Neanderthal introgressed variant-containing enhancer experimental_98567 [Gene]
LOC132089534:Neanderthal introgressed variant-containing enhancer experimental_98569 [Gene]
LOC132089535:Neanderthal introgressed variant-containing enhancer experimental_98573 [Gene]
LOC132089536:Neanderthal introgressed variant-containing enhancer experimental_98575/98576 [Gene]
LOC132089537:Neanderthal introgressed variant-containing enhancer experimental_98581 [Gene]
LOC132089538:Neanderthal introgressed variant-containing enhancer experimental_98586 [Gene]
LOC132089539:Neanderthal introgressed variant-containing enhancer experimental_98589 [Gene]
LOC132089540:Neanderthal introgressed variant-containing enhancer experimental_98595 [Gene]
LOC132090778:Neanderthal introgressed variant-containing enhancer experimental_98599 [Gene]
LOC132089541:Neanderthal introgressed variant-containing enhancer experimental_98607 [Gene]
LOC132089542:Neanderthal introgressed variant-containing enhancer experimental_98938 [Gene]
LOC132089543:Neanderthal introgressed variant-containing enhancer experimental_99082 [Gene]
LOC132089544:Neanderthal introgressed variant-containing enhancer experimental_99190 [Gene]
LOC132090779:Neanderthal introgressed variant-containing enhancer experimental_99227 [Gene]
LOC132089545:Neanderthal introgressed variant-containing enhancer experimental_99247 [Gene]
LOC132205966:Neanderthal introgressed variant-containing enhancers experimental_98539 and experimental_98540 [Gene]
NUDCD3:NudC domain containing 3 [Gene - OMIM - HGNC]
LOC108192210:OGDH intron CAGE-defined high expression enhancer [Gene]
LOC126860004:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:39772987-39774186 [Gene]
LOC126860010:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:41068008-41069207 [Gene]
LOC126860012:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:41146908-41148107 [Gene]
LOC126860016:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:42700646-42701845 [Gene]
POU6F2:POU class 6 homeobox 2 [Gene - OMIM - HGNC]
POU6F2-AS1:POU6F2 antisense RNA 1 [Gene - HGNC]
POU6F2-AS2:POU6F2 antisense RNA 2 [Gene - HGNC]
RALA:RAS like proto-oncogene A [Gene - OMIM - HGNC]
STARD3NL:STARD3 N-terminal like [Gene - OMIM - HGNC]
SUGCT-AS1:SUGCT antisense RNA 1 [Gene - HGNC]
LOC123956137:Sharpr-MPRA regulatory region 1141 [Gene]
LOC121175342:Sharpr-MPRA regulatory region 11574 [Gene]
LOC123956140:Sharpr-MPRA regulatory region 11578 [Gene]
LOC123956142:Sharpr-MPRA regulatory region 12861 [Gene]
LOC123956135:Sharpr-MPRA regulatory region 13548 [Gene]
LOC121740679:Sharpr-MPRA regulatory region 13923 [Gene]
LOC121175341:Sharpr-MPRA regulatory region 14136 [Gene]
LOC123956136:Sharpr-MPRA regulatory region 15414 [Gene]
LOC121740678:Sharpr-MPRA regulatory region 15680 [Gene]
LOC114004408:Sharpr-MPRA regulatory region 3634 [Gene]
LOC123956138:Sharpr-MPRA regulatory region 4044 [Gene]
LOC113748393:Sharpr-MPRA regulatory region 4653 [Gene]
LOC123956139:Sharpr-MPRA regulatory region 5110 [Gene]
LOC121175340:Sharpr-MPRA regulatory region 5390 [Gene]
LOC113748390:Sharpr-MPRA regulatory region 6412 [Gene]
LOC123956141:Sharpr-MPRA regulatory region 7454 [Gene]
TRGC1:T cell receptor gamma constant 1 [Gene - OMIM - HGNC]
TRGC2:T cell receptor gamma constant 2 [Gene - OMIM - HGNC]
TRGJ1:T cell receptor gamma joining 1 [Gene - HGNC]
TRGJ2:T cell receptor gamma joining 2 [Gene - HGNC]
TRGJP1:T cell receptor gamma joining P1 [Gene - HGNC]
TRGJP2:T cell receptor gamma joining P2 [Gene - HGNC]
TRGJP:T cell receptor gamma joining P [Gene - HGNC]
TRG-AS1:T cell receptor gamma locus antisense RNA 1 [Gene - HGNC]
TRG:T cell receptor gamma locus [Gene - HGNC]
TRGV2:T cell receptor gamma variable 2 [Gene - HGNC]
TRGV3:T cell receptor gamma variable 3 [Gene - HGNC]
TRGV4:T cell receptor gamma variable 4 [Gene - HGNC]
TRGV5:T cell receptor gamma variable 5 [Gene - HGNC]
TRGV8:T cell receptor gamma variable 8 [Gene - HGNC]
TRGV9:T cell receptor gamma variable 9 [Gene - HGNC]
TARP:TCR gamma alternate reading frame protein [Gene - OMIM]
URGCP-MRPS24:URGCP-MRPS24 readthrough [Gene - HGNC]
LOC110120590:VISTA enhancer hs111 [Gene]
LOC110121030:VISTA enhancer hs1213 [Gene]
LOC110121152:VISTA enhancer hs1586 [Gene]
VPS41:VPS41 subunit of HOPS complex [Gene - OMIM - HGNC]
YAE1-DT:YAE1 divergent transcript [Gene - HGNC]
YAE1:YAE1 maturation factor of ABCE1 [Gene - HGNC]
YKT6:YKT6 v-SNARE homolog [Gene - OMIM - HGNC]
AMPH:amphiphysin [Gene - OMIM - HGNC]
BLVRA:biliverdin reductase A [Gene - OMIM - HGNC]
CAMK2B:calcium/calmodulin dependent protein kinase II beta [Gene - OMIM - HGNC]
C7orf25:chromosome 7 open reading frame 25 [Gene - HGNC]
CDK13:cyclin dependent kinase 13 [Gene - OMIM - HGNC]
COA1:cytochrome c oxidase assembly factor 1 [Gene - OMIM - HGNC]
DBNL:drebrin like [Gene - OMIM - HGNC]
GCK:glucokinase [Gene - OMIM - HGNC]
INHBA:inhibin subunit beta A [Gene - OMIM - HGNC]
LUARIS:lncRNA upregulator of antiviral response interferon signaling [Gene - OMIM - HGNC]
LINC01448:long intergenic non-protein coding RNA 1448 [Gene - HGNC]
LINC01449:long intergenic non-protein coding RNA 1449 [Gene - HGNC]
LINC01450:long intergenic non-protein coding RNA 1450 [Gene - HGNC]
LINC00265:long intergenic non-protein coding RNA 265 [Gene - HGNC]
LINC00957:long intergenic non-protein coding RNA 957 [Gene - HGNC]
MIR3943:microRNA 3943 [Gene - HGNC]
MIR4649:microRNA 4649 [Gene - HGNC]
MIR4657:microRNA 4657 [Gene - HGNC]
MIR6837:microRNA 6837 [Gene - HGNC]
MIR6838:microRNA 6838 [Gene - HGNC]
MRPL32:mitochondrial ribosomal protein L32 [Gene - OMIM - HGNC]
MRPS24:mitochondrial ribosomal protein S24 [Gene - OMIM - HGNC]
MYO1G:myosin IG [Gene - OMIM - HGNC]
MYL7:myosin light chain 7 [Gene - OMIM - HGNC]
OGDH:oxoglutarate dehydrogenase [Gene - OMIM - HGNC]
PPIA:peptidylprolyl isomerase A [Gene - OMIM - HGNC]
PGAM2:phosphoglycerate mutase 2 [Gene - OMIM - HGNC]
PSMA2:proteasome 20S subunit alpha 2 [Gene - OMIM - HGNC]
PURB:purine rich element binding protein B [Gene - OMIM - HGNC]
RAMP3:receptor activity modifying protein 3 [Gene - OMIM - HGNC]
STK17A:serine/threonine kinase 17a [Gene - OMIM - HGNC]
SNHG15:small nucleolar RNA host gene 15 [Gene - HGNC]
SNORA20B:small nucleolar RNA, H/ACA box 20B [Gene - HGNC]
SNORA5A:small nucleolar RNA, H/ACA box 5A [Gene - HGNC]
SNORA5B:small nucleolar RNA, H/ACA box 5B [Gene - HGNC]
SNORA5C:small nucleolar RNA, H/ACA box 5C [Gene - OMIM - HGNC]
SNORA9:small nucleolar RNA, H/ACA box 9 [Gene - HGNC]
SPDYE1:speedy/RINGO cell cycle regulator family member E1 [Gene - OMIM - HGNC]
SUGCT:succinyl-CoA:glutarate-CoA transferase [Gene - OMIM - HGNC]
TBRG4:transforming growth factor beta regulator 4 [Gene - OMIM - HGNC]
TMED4:transmembrane p24 trafficking protein 4 [Gene - OMIM - HGNC]
UBE2D4:ubiquitin conjugating enzyme E2 D4 (putative) [Gene - HGNC]
URGCP:upregulator of cell proliferation [Gene - OMIM - HGNC]
ZMIZ2:zinc finger MIZ-type containing 2 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

7p14.1-13

Genomic location:

Preferred name:

GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1

HGVS:

NC_000007.14:g.(?_38177999)_(45304100_?)del
NC_000007.12:g.(?_38184126)_(45310224_?)del
NC_000007.13:g.(?_38217601)_(45343699_?)del

Links:

dbVar: nssv3395371; dbVar: nsv996185

Observations:

Condition(s)

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

Recent activity

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Aspergillus unguis isolate BMU04102 calmodulin gene, partial cds
Aspergillus unguis isolate BMU04102 calmodulin gene, partial cds
gi|2324826836|gb|OL435119.1|

Nucleotide
Aspergillus nidulans isolate BMU09786 calmodulin gene, partial cds
Aspergillus nidulans isolate BMU09786 calmodulin gene, partial cds
gi|2324826834|gb|OL435118.1|

Nucleotide
Aspergillus nidulans isolate BMU08154 calmodulin gene, partial cds
Aspergillus nidulans isolate BMU08154 calmodulin gene, partial cds
gi|2324826832|gb|OL435117.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183615	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Mar 18, 2014)	not provided	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

SCV000183615

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Mar 18, 2014)

not provided

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
human	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, SCV000183615.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

ClinVar

Relating variation to medicine