GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 AND See cases

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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 10, 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:: RCV000142287.4

Allele description

GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1

Genes:

AFG1L:AFG1 like ATPase [Gene - OMIM - HGNC]
ARMC2-AS1:ARMC2 antisense RNA 1 [Gene - HGNC]
LOC129996889:ATAC-STARR-seq lymphoblastoid active region 24868 [Gene]
LOC129996891:ATAC-STARR-seq lymphoblastoid active region 24869 [Gene]
LOC129996892:ATAC-STARR-seq lymphoblastoid active region 24870 [Gene]
LOC129996893:ATAC-STARR-seq lymphoblastoid active region 24871 [Gene]
LOC129996894:ATAC-STARR-seq lymphoblastoid active region 24872 [Gene]
LOC129996895:ATAC-STARR-seq lymphoblastoid active region 24873 [Gene]
LOC129996896:ATAC-STARR-seq lymphoblastoid active region 24875 [Gene]
LOC129996897:ATAC-STARR-seq lymphoblastoid active region 24876 [Gene]
LOC129996899:ATAC-STARR-seq lymphoblastoid active region 24877 [Gene]
LOC129996900:ATAC-STARR-seq lymphoblastoid active region 24878 [Gene]
LOC129996901:ATAC-STARR-seq lymphoblastoid active region 24883 [Gene]
LOC129996903:ATAC-STARR-seq lymphoblastoid active region 24884 [Gene]
LOC129996904:ATAC-STARR-seq lymphoblastoid active region 24885 [Gene]
LOC129996906:ATAC-STARR-seq lymphoblastoid active region 24888 [Gene]
LOC129996907:ATAC-STARR-seq lymphoblastoid active region 24889 [Gene]
LOC129996909:ATAC-STARR-seq lymphoblastoid active region 24891 [Gene]
LOC129996910:ATAC-STARR-seq lymphoblastoid active region 24892 [Gene]
LOC129996911:ATAC-STARR-seq lymphoblastoid active region 24893 [Gene]
LOC129996912:ATAC-STARR-seq lymphoblastoid active region 24894 [Gene]
LOC129996913:ATAC-STARR-seq lymphoblastoid active region 24895 [Gene]
LOC129996914:ATAC-STARR-seq lymphoblastoid active region 24896 [Gene]
LOC129996915:ATAC-STARR-seq lymphoblastoid active region 24897 [Gene]
LOC129996919:ATAC-STARR-seq lymphoblastoid active region 24898 [Gene]
LOC129996920:ATAC-STARR-seq lymphoblastoid active region 24899 [Gene]
LOC129996924:ATAC-STARR-seq lymphoblastoid active region 24900 [Gene]
LOC129996925:ATAC-STARR-seq lymphoblastoid active region 24901 [Gene]
LOC129996926:ATAC-STARR-seq lymphoblastoid active region 24902 [Gene]
LOC129996929:ATAC-STARR-seq lymphoblastoid active region 24906 [Gene]
LOC129996932:ATAC-STARR-seq lymphoblastoid active region 24908 [Gene]
LOC129996934:ATAC-STARR-seq lymphoblastoid active region 24909 [Gene]
LOC129996935:ATAC-STARR-seq lymphoblastoid active region 24910 [Gene]
LOC129996939:ATAC-STARR-seq lymphoblastoid active region 24911 [Gene]
LOC129996940:ATAC-STARR-seq lymphoblastoid active region 24912 [Gene]
LOC129996941:ATAC-STARR-seq lymphoblastoid active region 24913 [Gene]
LOC129996943:ATAC-STARR-seq lymphoblastoid active region 24914 [Gene]
LOC129996947:ATAC-STARR-seq lymphoblastoid active region 24915 [Gene]
LOC129996948:ATAC-STARR-seq lymphoblastoid active region 24916 [Gene]
LOC129996950:ATAC-STARR-seq lymphoblastoid active region 24917 [Gene]
LOC129996952:ATAC-STARR-seq lymphoblastoid active region 24918 [Gene]
LOC129996953:ATAC-STARR-seq lymphoblastoid active region 24919 [Gene]
LOC129996954:ATAC-STARR-seq lymphoblastoid active region 24920 [Gene]
LOC129996956:ATAC-STARR-seq lymphoblastoid active region 24921 [Gene]
LOC129996958:ATAC-STARR-seq lymphoblastoid active region 24923 [Gene]
LOC129996959:ATAC-STARR-seq lymphoblastoid active region 24924 [Gene]
LOC129996960:ATAC-STARR-seq lymphoblastoid active region 24925 [Gene]
LOC129996962:ATAC-STARR-seq lymphoblastoid active region 24926 [Gene]
LOC129996963:ATAC-STARR-seq lymphoblastoid active region 24927 [Gene]
LOC129996965:ATAC-STARR-seq lymphoblastoid active region 24928 [Gene]
LOC129996966:ATAC-STARR-seq lymphoblastoid active region 24929 [Gene]
LOC129996967:ATAC-STARR-seq lymphoblastoid active region 24930 [Gene]
LOC129996970:ATAC-STARR-seq lymphoblastoid active region 24931 [Gene]
LOC129996971:ATAC-STARR-seq lymphoblastoid active region 24932 [Gene]
LOC129996972:ATAC-STARR-seq lymphoblastoid active region 24933 [Gene]
LOC129996973:ATAC-STARR-seq lymphoblastoid active region 24934 [Gene]
LOC129996976:ATAC-STARR-seq lymphoblastoid active region 24935 [Gene]
LOC129996977:ATAC-STARR-seq lymphoblastoid active region 24936 [Gene]
LOC129996979:ATAC-STARR-seq lymphoblastoid active region 24937 [Gene]
LOC129996980:ATAC-STARR-seq lymphoblastoid active region 24938 [Gene]
LOC129996981:ATAC-STARR-seq lymphoblastoid active region 24939 [Gene]
LOC129996982:ATAC-STARR-seq lymphoblastoid active region 24940 [Gene]
LOC129996985:ATAC-STARR-seq lymphoblastoid active region 24941 [Gene]
LOC129996986:ATAC-STARR-seq lymphoblastoid active region 24942 [Gene]
LOC129996987:ATAC-STARR-seq lymphoblastoid active region 24943 [Gene]
LOC129996988:ATAC-STARR-seq lymphoblastoid active region 24944 [Gene]
LOC129996994:ATAC-STARR-seq lymphoblastoid active region 24945 [Gene]
LOC129996995:ATAC-STARR-seq lymphoblastoid active region 24946 [Gene]
LOC129996996:ATAC-STARR-seq lymphoblastoid active region 24947 [Gene]
LOC129996997:ATAC-STARR-seq lymphoblastoid active region 24949 [Gene]
LOC129996998:ATAC-STARR-seq lymphoblastoid active region 24950 [Gene]
LOC129996999:ATAC-STARR-seq lymphoblastoid active region 24951 [Gene]
LOC129997000:ATAC-STARR-seq lymphoblastoid active region 24952 [Gene]
LOC129997002:ATAC-STARR-seq lymphoblastoid active region 24953 [Gene]
LOC129997003:ATAC-STARR-seq lymphoblastoid active region 24954 [Gene]
LOC129997004:ATAC-STARR-seq lymphoblastoid active region 24955 [Gene]
LOC129997005:ATAC-STARR-seq lymphoblastoid active region 24956 [Gene]
LOC129997006:ATAC-STARR-seq lymphoblastoid active region 24957 [Gene]
LOC129997008:ATAC-STARR-seq lymphoblastoid active region 24958 [Gene]
LOC129997010:ATAC-STARR-seq lymphoblastoid active region 24959 [Gene]
LOC129997011:ATAC-STARR-seq lymphoblastoid active region 24961 [Gene]
LOC129997013:ATAC-STARR-seq lymphoblastoid active region 24962 [Gene]
LOC129997014:ATAC-STARR-seq lymphoblastoid active region 24963 [Gene]
LOC129997015:ATAC-STARR-seq lymphoblastoid active region 24964 [Gene]
LOC129997016:ATAC-STARR-seq lymphoblastoid active region 24965 [Gene]
LOC129997017:ATAC-STARR-seq lymphoblastoid active region 24966 [Gene]
LOC129997018:ATAC-STARR-seq lymphoblastoid active region 24967 [Gene]
LOC129997019:ATAC-STARR-seq lymphoblastoid active region 24969 [Gene]
LOC129997020:ATAC-STARR-seq lymphoblastoid active region 24970 [Gene]
LOC129997022:ATAC-STARR-seq lymphoblastoid active region 24971 [Gene]
LOC129997023:ATAC-STARR-seq lymphoblastoid active region 24972 [Gene]
LOC129996887:ATAC-STARR-seq lymphoblastoid silent region 17426 [Gene]
LOC129996888:ATAC-STARR-seq lymphoblastoid silent region 17427 [Gene]
LOC129996890:ATAC-STARR-seq lymphoblastoid silent region 17428 [Gene]
LOC129996898:ATAC-STARR-seq lymphoblastoid silent region 17429 [Gene]
LOC129996902:ATAC-STARR-seq lymphoblastoid silent region 17430 [Gene]
LOC129996905:ATAC-STARR-seq lymphoblastoid silent region 17431 [Gene]
LOC129996908:ATAC-STARR-seq lymphoblastoid silent region 17433 [Gene]
LOC129996916:ATAC-STARR-seq lymphoblastoid silent region 17434 [Gene]
LOC129996917:ATAC-STARR-seq lymphoblastoid silent region 17435 [Gene]
LOC129996918:ATAC-STARR-seq lymphoblastoid silent region 17436 [Gene]
LOC129996921:ATAC-STARR-seq lymphoblastoid silent region 17437 [Gene]
LOC129996922:ATAC-STARR-seq lymphoblastoid silent region 17438 [Gene]
LOC129996923:ATAC-STARR-seq lymphoblastoid silent region 17439 [Gene]
LOC129996927:ATAC-STARR-seq lymphoblastoid silent region 17440 [Gene]
LOC129996928:ATAC-STARR-seq lymphoblastoid silent region 17441 [Gene]
LOC129996930:ATAC-STARR-seq lymphoblastoid silent region 17442 [Gene]
LOC129996931:ATAC-STARR-seq lymphoblastoid silent region 17443 [Gene]
LOC129996933:ATAC-STARR-seq lymphoblastoid silent region 17446 [Gene]
LOC129996936:ATAC-STARR-seq lymphoblastoid silent region 17448 [Gene]
LOC129996937:ATAC-STARR-seq lymphoblastoid silent region 17449 [Gene]
LOC129996938:ATAC-STARR-seq lymphoblastoid silent region 17450 [Gene]
LOC129996942:ATAC-STARR-seq lymphoblastoid silent region 17451 [Gene]
LOC129996944:ATAC-STARR-seq lymphoblastoid silent region 17452 [Gene]
LOC129996945:ATAC-STARR-seq lymphoblastoid silent region 17453 [Gene]
LOC129996946:ATAC-STARR-seq lymphoblastoid silent region 17454 [Gene]
LOC129996949:ATAC-STARR-seq lymphoblastoid silent region 17455 [Gene]
LOC129996951:ATAC-STARR-seq lymphoblastoid silent region 17456 [Gene]
LOC129996955:ATAC-STARR-seq lymphoblastoid silent region 17457 [Gene]
LOC129996957:ATAC-STARR-seq lymphoblastoid silent region 17458 [Gene]
LOC129996961:ATAC-STARR-seq lymphoblastoid silent region 17460 [Gene]
LOC129996964:ATAC-STARR-seq lymphoblastoid silent region 17462 [Gene]
LOC129996968:ATAC-STARR-seq lymphoblastoid silent region 17463 [Gene]
LOC129996969:ATAC-STARR-seq lymphoblastoid silent region 17464 [Gene]
LOC129996974:ATAC-STARR-seq lymphoblastoid silent region 17465 [Gene]
LOC129996975:ATAC-STARR-seq lymphoblastoid silent region 17466 [Gene]
LOC129996978:ATAC-STARR-seq lymphoblastoid silent region 17467 [Gene]
LOC129996983:ATAC-STARR-seq lymphoblastoid silent region 17472 [Gene]
LOC129996984:ATAC-STARR-seq lymphoblastoid silent region 17473 [Gene]
LOC129996989:ATAC-STARR-seq lymphoblastoid silent region 17475 [Gene]
LOC129996990:ATAC-STARR-seq lymphoblastoid silent region 17476 [Gene]
LOC129996991:ATAC-STARR-seq lymphoblastoid silent region 17477 [Gene]
LOC129996992:ATAC-STARR-seq lymphoblastoid silent region 17478 [Gene]
LOC129996993:ATAC-STARR-seq lymphoblastoid silent region 17479 [Gene]
LOC129997001:ATAC-STARR-seq lymphoblastoid silent region 17480 [Gene]
LOC129997007:ATAC-STARR-seq lymphoblastoid silent region 17481 [Gene]
LOC129997009:ATAC-STARR-seq lymphoblastoid silent region 17484 [Gene]
LOC129997012:ATAC-STARR-seq lymphoblastoid silent region 17485 [Gene]
LOC129997021:ATAC-STARR-seq lymphoblastoid silent region 17486 [Gene]
LOC129997024:ATAC-STARR-seq lymphoblastoid silent region 17487 [Gene]
BEND3:BEN domain containing 3 [Gene - OMIM - HGNC]
LOC126859751:BRD4-independent group 4 enhancer GRCh37_chr6:104565801-104567000 [Gene]
LOC126859754:BRD4-independent group 4 enhancer GRCh37_chr6:106332509-106333708 [Gene]
LOC126859756:BRD4-independent group 4 enhancer GRCh37_chr6:106582537-106583736 [Gene]
LOC126859762:BRD4-independent group 4 enhancer GRCh37_chr6:109612245-109613444 [Gene]
BVES-AS1:BVES antisense RNA 1 [Gene - HGNC]
CD164:CD164 molecule [Gene - OMIM - HGNC]
CD24:CD24 molecule [Gene - OMIM - HGNC]
LOC126859757:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 [Gene]
LOC126859758:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:109019778-109020977 [Gene]
LOC126859759:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:109126969-109128168 [Gene]
DDO:D-aspartate oxidase [Gene - OMIM - HGNC]
FIG4:FIG4 phosphoinositide 5-phosphatase [Gene - OMIM - HGNC]
FYN:FYN proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
GPR6:G protein-coupled receptor 6 [Gene - OMIM - HGNC]
HACE1:HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
LAMA4-AS1:LAMA4 antisense RNA 1 [Gene - HGNC]
LIN28B-AS1:LIN28B antisense RNA 1 [Gene - HGNC]
MROCKI:MARCKS cis regulating lncRNA promoter of cytokines and inflammation [Gene - HGNC]
LOC126859752:MED14-independent group 3 enhancer GRCh37_chr6:105969750-105970949 [Gene]
LOC126859753:MED14-independent group 3 enhancer GRCh37_chr6:106048698-106049897 [Gene]
LOC126859755:MED14-independent group 3 enhancer GRCh37_chr6:106546043-106547242 [Gene]
LOC126859760:MED14-independent group 3 enhancer GRCh37_chr6:109218189-109219388 [Gene]
LOC126859761:MED14-independent group 3 enhancer GRCh37_chr6:109562791-109563990 [Gene]
LOC126859763:MED14-independent group 3 enhancer GRCh37_chr6:110203046-110204245 [Gene]
LOC126859764:MED14-independent group 3 enhancer GRCh37_chr6:111428108-111429307 [Gene]
LOC126859765:MED14-independent group 3 enhancer GRCh37_chr6:111886439-111887638 [Gene]
LOC126859766:MED14-independent group 3 enhancer GRCh37_chr6:112462018-112463217 [Gene]
LOC128559983:MPRA functional variant 6:109625879:G:A red blood cell enhancer [Gene]
LOC129389592:MPRA-validated peak5987 silencer [Gene]
LOC129389593:MPRA-validated peak5988 silencer [Gene]
LOC129389594:MPRA-validated peak5989 silencer [Gene]
LOC129389595:MPRA-validated peak5993 silencer [Gene]
LOC129389596:MPRA-validated peak5996 silencer [Gene]
LOC129389597:MPRA-validated peak5997 silencer [Gene]
LOC129389598:MPRA-validated peak5998 silencer [Gene]
LOC129389599:MPRA-validated peak6001 silencer [Gene]
LOC129389600:MPRA-validated peak6003 silencer [Gene]
LOC129389601:MPRA-validated peak6006 silencer [Gene]
LOC129389602:MPRA-validated peak6008 silencer [Gene]
LOC129389603:MPRA-validated peak6010 silencer [Gene]
LOC129389604:MPRA-validated peak6011 silencer [Gene]
LOC129389605:MPRA-validated peak6014 silencer [Gene]
LOC129389606:MPRA-validated peak6015 silencer [Gene]
LOC129389607:MPRA-validated peak6016 silencer [Gene]
LOC129389608:MPRA-validated peak6018 silencer [Gene]
LOC129389609:MPRA-validated peak6023 silencer [Gene]
LOC129389610:MPRA-validated peak6024 silencer [Gene]
LOC129389611:MPRA-validated peak6028 silencer [Gene]
LOC129389612:MPRA-validated peak6032 silencer [Gene]
LOC129389613:MPRA-validated peak6034 silencer [Gene]
LOC129389614:MPRA-validated peak6035 silencer [Gene]
LOC129389615:MPRA-validated peak6037 silencer [Gene]
LOC129389616:MPRA-validated peak6038 silencer [Gene]
LOC129389617:MPRA-validated peak6040 silencer [Gene]
LOC129389618:MPRA-validated peak6041 silencer [Gene]
LOC129389619:MPRA-validated peak6046 silencer [Gene]
LOC129389620:MPRA-validated peak6047 silencer [Gene]
LOC132089308:Neanderthal introgressed variant-containing enhancer experimental_87382 [Gene]
LOC132089309:Neanderthal introgressed variant-containing enhancer experimental_87657 [Gene]
LOC132089310:Neanderthal introgressed variant-containing enhancer experimental_87727 [Gene]
OSTM1-AS1:OSTM1 antisense RNA 1 [Gene - HGNC]
LOC126859767:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:112524438-112525637 [Gene]
PRDM1:PR/SET domain 1 [Gene - OMIM - HGNC]
REV3L:REV3 like, DNA directed polymerase zeta catalytic subunit [Gene - OMIM - HGNC]
SEC63:SEC63 homolog, protein translocation regulator [Gene - OMIM - HGNC]
SCML4:Scm polycomb group protein like 4 [Gene - HGNC]
LOC123775403:Sharpr-MPRA regulatory region 10405 [Gene]
LOC121740661:Sharpr-MPRA regulatory region 10433 [Gene]
LOC121740660:Sharpr-MPRA regulatory region 11207 [Gene]
LOC123833525:Sharpr-MPRA regulatory region 11267 [Gene]
LOC121740664:Sharpr-MPRA regulatory region 11311 [Gene]
LOC123775399:Sharpr-MPRA regulatory region 11560 [Gene]
LOC123775398:Sharpr-MPRA regulatory region 11562 [Gene]
LOC121132702:Sharpr-MPRA regulatory region 11761 [Gene]
LOC121132703:Sharpr-MPRA regulatory region 12173 [Gene]
LOC123833521:Sharpr-MPRA regulatory region 12211 [Gene]
LOC123833523:Sharpr-MPRA regulatory region 12906 [Gene]
LOC113121304:Sharpr-MPRA regulatory region 13716 [Gene]
LOC123775395:Sharpr-MPRA regulatory region 13974 [Gene]
LOC113121302:Sharpr-MPRA regulatory region 14072 [Gene]
LOC123775400:Sharpr-MPRA regulatory region 15105 [Gene]
LOC123775402:Sharpr-MPRA regulatory region 15445 [Gene]
LOC113121300:Sharpr-MPRA regulatory region 1651 [Gene]
LOC123775396:Sharpr-MPRA regulatory region 2315 [Gene]
LOC121740662:Sharpr-MPRA regulatory region 3191 [Gene]
LOC123775393:Sharpr-MPRA regulatory region 441 [Gene]
LOC123775397:Sharpr-MPRA regulatory region 5034 [Gene]
LOC123775401:Sharpr-MPRA regulatory region 5156 [Gene]
LOC113121303:Sharpr-MPRA regulatory region 5191 [Gene]
LOC123775405:Sharpr-MPRA regulatory region 5639 [Gene]
LOC123775404:Sharpr-MPRA regulatory region 678 [Gene]
LOC123775394:Sharpr-MPRA regulatory region 6907 [Gene]
LOC123833522:Sharpr-MPRA regulatory region 7524 [Gene]
LOC121740663:Sharpr-MPRA regulatory region 9088 [Gene]
LOC123833524:Sharpr-MPRA regulatory region 9187 [Gene]
LOC123775392:Sharpr-MPRA regulatory region 9287 [Gene]
LOC113121301:Sharpr-MPRA regulatory region 9880 [Gene]
TRAF3IP2:TRAF3 interacting protein 2 [Gene - OMIM - HGNC]
TRAF3IP2-AS1:TRAF3IP2 antisense RNA 1 [Gene - HGNC]
LOC114803478:TRAF3IP2 eExon liver enhancer [Gene]
LOC110121046:VISTA enhancer hs1302 [Gene]
LOC110121109:VISTA enhancer hs1452 [Gene]
LOC110121188:VISTA enhancer hs1690 [Gene]
WASF1:WASP family member 1 [Gene - OMIM - HGNC]
ZBTB24-DT:ZBTB24 divergent transcript [Gene - HGNC]
AMD1:adenosylmethionine decarboxylase 1 [Gene - OMIM - HGNC]
AK9:adenylate kinase 9 [Gene - OMIM - HGNC]
ARMC2:armadillo repeat containing 2 [Gene - OMIM - HGNC]
ATG5:autophagy related 5 [Gene - OMIM - HGNC]
BVES:blood vessel epicardial substance [Gene - OMIM - HGNC]
CDC40:cell division cycle 40 [Gene - OMIM - HGNC]
CCN6:cellular communication network factor 6 [Gene - OMIM - HGNC]
CEP57L1:centrosomal protein 57 like 1 [Gene - HGNC]
C6orf183:chromosome 6 open reading frame 183 [Gene - HGNC]
CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]
CDK19:cyclin dependent kinase 19 [Gene - OMIM - HGNC]
PDSS2:decaprenyl diphosphate synthase subunit 2 [Gene - OMIM - HGNC]
FAM229B:family with sequence similarity 229 member B [Gene - HGNC]
FOXO3:forkhead box O3 [Gene - OMIM - HGNC]
GTF3C6:general transcription factor IIIC subunit 6 [Gene - OMIM - HGNC]
QRSL1:glutaminyl-tRNA amidotransferase subunit QRSL1 [Gene - OMIM - HGNC]
HDAC2:histone deacetylase 2 [Gene - OMIM - HGNC]
LAMA4:laminin subunit alpha 4 [Gene - OMIM - HGNC]
LIN28B:lin-28 homolog B [Gene - OMIM - HGNC]
LINC00222:long intergenic non-protein coding RNA 222 [Gene - HGNC]
LINC02518:long intergenic non-protein coding RNA 2518 [Gene - HGNC]
LINC02526:long intergenic non-protein coding RNA 2526 [Gene - HGNC]
LINC02527:long intergenic non-protein coding RNA 2527 [Gene - HGNC]
LINC02532:long intergenic non-protein coding RNA 2532 [Gene - HGNC]
LINC02541:long intergenic non-protein coding RNA 2541 [Gene - HGNC]
LINC02836:long intergenic non-protein coding RNA 2836 [Gene - HGNC]
LINC02880:long intergenic non-protein coding RNA 2880 [Gene - HGNC]
MFSD4B:major facilitator superfamily domain containing 4B [Gene - OMIM - HGNC]
METTL24:methyltransferase like 24 [Gene - HGNC]
MIR587:microRNA 587 [Gene - HGNC]
MICAL1:microtubule associated monooxygenase, calponin and LIM domain containing 1 [Gene - OMIM - HGNC]
MTRES1:mitochondrial transcription rescue factor 1 [Gene - OMIM - HGNC]
MARCKS:myristoylated alanine rich protein kinase C substrate [Gene - OMIM - HGNC]
NR2E1:nuclear receptor subfamily 2 group E member 1 [Gene - OMIM - HGNC]
OSTM1:osteoclastogenesis associated transmembrane protein 1 [Gene - OMIM - HGNC]
PPIL6:peptidylprolyl isomerase like 6 [Gene - HGNC]
POPDC3:popeye domain containing 3 [Gene - OMIM - HGNC]
PREP:prolyl endopeptidase [Gene - OMIM - HGNC]
RFPL4B:ret finger protein like 4B [Gene - HGNC]
RTN4IP1:reticulon 4 interacting protein 1 [Gene - OMIM - HGNC]
RPF2:ribosome production factor 2 homolog [Gene - OMIM - HGNC]
SESN1:sestrin 1 [Gene - OMIM - HGNC]
SOBP:sine oculis binding protein homolog [Gene - OMIM - HGNC]
SNORD166:small nucleolar RNA, C/D box 166 [Gene - HGNC]
SNORA40C:small nucleolar RNA, H/ACA box 40C [Gene - HGNC]
SLC16A10:solute carrier family 16 member 10 [Gene - OMIM - HGNC]
SLC22A16:solute carrier family 22 member 16 [Gene - OMIM - HGNC]
SNX3:sorting nexin 3 [Gene - OMIM - HGNC]
SMPD2:sphingomyelin phosphodiesterase 2 [Gene - OMIM - HGNC]
TUBE1:tubulin epsilon 1 [Gene - OMIM - HGNC]
LOC102724646:uncharacterized LOC102724646 [Gene]
LOC105377924:uncharacterized LOC105377924 [Gene]
ZBTB24:zinc finger and BTB domain containing 24 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

6q16.3-21

Genomic location:

Preferred name:

GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1

HGVS:

NC_000006.12:g.(?_103279465)_(113934239_?)del
NC_000006.10:g.(?_103834033)_(114362096_?)del
NC_000006.11:g.(?_103727340)_(114255403_?)del

Links:

dbVar: nssv3395353; dbVar: nsv996170

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183600	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Mar 10, 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

SCV000183600

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Mar 10, 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
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, SCV000183600.4

#	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	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