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GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 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:
RCV000053614.5

Allele description [Variation Report for GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3]

GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3

Genes:
  • LOC130005039:ATAC-STARR-seq lymphoblastoid active region 4255 [Gene]
  • LOC130005040:ATAC-STARR-seq lymphoblastoid active region 4256 [Gene]
  • LOC130005042:ATAC-STARR-seq lymphoblastoid active region 4257 [Gene]
  • LOC130005043:ATAC-STARR-seq lymphoblastoid active region 4258 [Gene]
  • LOC130005046:ATAC-STARR-seq lymphoblastoid active region 4259 [Gene]
  • LOC130005047:ATAC-STARR-seq lymphoblastoid active region 4260 [Gene]
  • LOC130005048:ATAC-STARR-seq lymphoblastoid active region 4261 [Gene]
  • LOC130005049:ATAC-STARR-seq lymphoblastoid active region 4262 [Gene]
  • LOC130005050:ATAC-STARR-seq lymphoblastoid active region 4264 [Gene]
  • LOC130005051:ATAC-STARR-seq lymphoblastoid active region 4265 [Gene]
  • LOC130005055:ATAC-STARR-seq lymphoblastoid active region 4266 [Gene]
  • LOC130005056:ATAC-STARR-seq lymphoblastoid active region 4267 [Gene]
  • LOC130005057:ATAC-STARR-seq lymphoblastoid active region 4268 [Gene]
  • LOC130005058:ATAC-STARR-seq lymphoblastoid active region 4269 [Gene]
  • LOC130005059:ATAC-STARR-seq lymphoblastoid active region 4270 [Gene]
  • LOC130005060:ATAC-STARR-seq lymphoblastoid active region 4271 [Gene]
  • LOC130005061:ATAC-STARR-seq lymphoblastoid active region 4272 [Gene]
  • LOC130005070:ATAC-STARR-seq lymphoblastoid active region 4275 [Gene]
  • LOC130005089:ATAC-STARR-seq lymphoblastoid active region 4279 [Gene]
  • LOC130005090:ATAC-STARR-seq lymphoblastoid active region 4280 [Gene]
  • LOC130005091:ATAC-STARR-seq lymphoblastoid active region 4281 [Gene]
  • LOC130005093:ATAC-STARR-seq lymphoblastoid active region 4284 [Gene]
  • LOC130005094:ATAC-STARR-seq lymphoblastoid active region 4285 [Gene]
  • LOC130005095:ATAC-STARR-seq lymphoblastoid active region 4286 [Gene]
  • LOC130005098:ATAC-STARR-seq lymphoblastoid active region 4287 [Gene]
  • LOC130005111:ATAC-STARR-seq lymphoblastoid active region 4288 [Gene]
  • LOC130005117:ATAC-STARR-seq lymphoblastoid active region 4289 [Gene]
  • LOC130005125:ATAC-STARR-seq lymphoblastoid active region 4290 [Gene]
  • LOC130005126:ATAC-STARR-seq lymphoblastoid active region 4291 [Gene]
  • LOC130005127:ATAC-STARR-seq lymphoblastoid active region 4292 [Gene]
  • LOC130005128:ATAC-STARR-seq lymphoblastoid active region 4293 [Gene]
  • LOC130005129:ATAC-STARR-seq lymphoblastoid active region 4294 [Gene]
  • LOC130005131:ATAC-STARR-seq lymphoblastoid active region 4295 [Gene]
  • LOC130005134:ATAC-STARR-seq lymphoblastoid active region 4296 [Gene]
  • LOC130005135:ATAC-STARR-seq lymphoblastoid active region 4297 [Gene]
  • LOC130005137:ATAC-STARR-seq lymphoblastoid active region 4298 [Gene]
  • LOC130005139:ATAC-STARR-seq lymphoblastoid active region 4300 [Gene]
  • LOC130005140:ATAC-STARR-seq lymphoblastoid active region 4301 [Gene]
  • LOC130005143:ATAC-STARR-seq lymphoblastoid active region 4304 [Gene]
  • LOC130005144:ATAC-STARR-seq lymphoblastoid active region 4305 [Gene]
  • LOC130005146:ATAC-STARR-seq lymphoblastoid active region 4306 [Gene]
  • LOC130005148:ATAC-STARR-seq lymphoblastoid active region 4307 [Gene]
  • LOC130005038:ATAC-STARR-seq lymphoblastoid silent region 2989 [Gene]
  • LOC130005041:ATAC-STARR-seq lymphoblastoid silent region 2990 [Gene]
  • LOC130005044:ATAC-STARR-seq lymphoblastoid silent region 2991 [Gene]
  • LOC130005045:ATAC-STARR-seq lymphoblastoid silent region 2993 [Gene]
  • LOC130005052:ATAC-STARR-seq lymphoblastoid silent region 2994 [Gene]
  • LOC130005053:ATAC-STARR-seq lymphoblastoid silent region 2995 [Gene]
  • LOC130005054:ATAC-STARR-seq lymphoblastoid silent region 2996 [Gene]
  • LOC130005062:ATAC-STARR-seq lymphoblastoid silent region 2998 [Gene]
  • LOC130005063:ATAC-STARR-seq lymphoblastoid silent region 2999 [Gene]
  • LOC130005064:ATAC-STARR-seq lymphoblastoid silent region 3000 [Gene]
  • LOC130005065:ATAC-STARR-seq lymphoblastoid silent region 3001 [Gene]
  • LOC130005066:ATAC-STARR-seq lymphoblastoid silent region 3002 [Gene]
  • LOC130005067:ATAC-STARR-seq lymphoblastoid silent region 3003 [Gene]
  • LOC130005068:ATAC-STARR-seq lymphoblastoid silent region 3004 [Gene]
  • LOC130005069:ATAC-STARR-seq lymphoblastoid silent region 3005 [Gene]
  • LOC130005071:ATAC-STARR-seq lymphoblastoid silent region 3006 [Gene]
  • LOC130005072:ATAC-STARR-seq lymphoblastoid silent region 3007 [Gene]
  • LOC130005073:ATAC-STARR-seq lymphoblastoid silent region 3009 [Gene]
  • LOC130005074:ATAC-STARR-seq lymphoblastoid silent region 3010 [Gene]
  • LOC130005075:ATAC-STARR-seq lymphoblastoid silent region 3015 [Gene]
  • LOC130005076:ATAC-STARR-seq lymphoblastoid silent region 3016 [Gene]
  • LOC130005077:ATAC-STARR-seq lymphoblastoid silent region 3017 [Gene]
  • LOC130005078:ATAC-STARR-seq lymphoblastoid silent region 3018 [Gene]
  • LOC130005079:ATAC-STARR-seq lymphoblastoid silent region 3019 [Gene]
  • LOC130005080:ATAC-STARR-seq lymphoblastoid silent region 3020 [Gene]
  • LOC130005081:ATAC-STARR-seq lymphoblastoid silent region 3021 [Gene]
  • LOC130005082:ATAC-STARR-seq lymphoblastoid silent region 3022 [Gene]
  • LOC130005083:ATAC-STARR-seq lymphoblastoid silent region 3025 [Gene]
  • LOC130005084:ATAC-STARR-seq lymphoblastoid silent region 3026 [Gene]
  • LOC130005085:ATAC-STARR-seq lymphoblastoid silent region 3027 [Gene]
  • LOC130005086:ATAC-STARR-seq lymphoblastoid silent region 3028 [Gene]
  • LOC130005087:ATAC-STARR-seq lymphoblastoid silent region 3029 [Gene]
  • LOC130005088:ATAC-STARR-seq lymphoblastoid silent region 3032 [Gene]
  • LOC130005092:ATAC-STARR-seq lymphoblastoid silent region 3034 [Gene]
  • LOC130005096:ATAC-STARR-seq lymphoblastoid silent region 3035 [Gene]
  • LOC130005097:ATAC-STARR-seq lymphoblastoid silent region 3036 [Gene]
  • LOC130005099:ATAC-STARR-seq lymphoblastoid silent region 3038 [Gene]
  • LOC130005100:ATAC-STARR-seq lymphoblastoid silent region 3039 [Gene]
  • LOC130005101:ATAC-STARR-seq lymphoblastoid silent region 3040 [Gene]
  • LOC130005102:ATAC-STARR-seq lymphoblastoid silent region 3041 [Gene]
  • LOC130005103:ATAC-STARR-seq lymphoblastoid silent region 3042 [Gene]
  • LOC130005104:ATAC-STARR-seq lymphoblastoid silent region 3044 [Gene]
  • LOC130005105:ATAC-STARR-seq lymphoblastoid silent region 3045 [Gene]
  • LOC130005106:ATAC-STARR-seq lymphoblastoid silent region 3046 [Gene]
  • LOC130005107:ATAC-STARR-seq lymphoblastoid silent region 3047 [Gene]
  • LOC130005108:ATAC-STARR-seq lymphoblastoid silent region 3048 [Gene]
  • LOC130005109:ATAC-STARR-seq lymphoblastoid silent region 3049 [Gene]
  • LOC130005110:ATAC-STARR-seq lymphoblastoid silent region 3050 [Gene]
  • LOC130005112:ATAC-STARR-seq lymphoblastoid silent region 3052 [Gene]
  • LOC130005113:ATAC-STARR-seq lymphoblastoid silent region 3053 [Gene]
  • LOC130005114:ATAC-STARR-seq lymphoblastoid silent region 3054 [Gene]
  • LOC130005115:ATAC-STARR-seq lymphoblastoid silent region 3055 [Gene]
  • LOC130005116:ATAC-STARR-seq lymphoblastoid silent region 3056 [Gene]
  • LOC130005118:ATAC-STARR-seq lymphoblastoid silent region 3057 [Gene]
  • LOC130005119:ATAC-STARR-seq lymphoblastoid silent region 3058 [Gene]
  • LOC130005120:ATAC-STARR-seq lymphoblastoid silent region 3059 [Gene]
  • LOC130005121:ATAC-STARR-seq lymphoblastoid silent region 3060 [Gene]
  • LOC130005122:ATAC-STARR-seq lymphoblastoid silent region 3061 [Gene]
  • LOC130005123:ATAC-STARR-seq lymphoblastoid silent region 3062 [Gene]
  • LOC130005124:ATAC-STARR-seq lymphoblastoid silent region 3063 [Gene]
  • LOC130005130:ATAC-STARR-seq lymphoblastoid silent region 3064 [Gene]
  • LOC130005132:ATAC-STARR-seq lymphoblastoid silent region 3065 [Gene]
  • LOC130005133:ATAC-STARR-seq lymphoblastoid silent region 3066 [Gene]
  • LOC130005136:ATAC-STARR-seq lymphoblastoid silent region 3067 [Gene]
  • LOC130005138:ATAC-STARR-seq lymphoblastoid silent region 3068 [Gene]
  • LOC130005141:ATAC-STARR-seq lymphoblastoid silent region 3069 [Gene]
  • LOC130005142:ATAC-STARR-seq lymphoblastoid silent region 3070 [Gene]
  • LOC130005145:ATAC-STARR-seq lymphoblastoid silent region 3071 [Gene]
  • LOC130005147:ATAC-STARR-seq lymphoblastoid silent region 3074 [Gene]
  • LOC130005149:ATAC-STARR-seq lymphoblastoid silent region 3075 [Gene]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • LOC126861113:BRD4-independent group 4 enhancer GRCh37_chr11:1640412-1641611 [Gene]
  • LOC126861115:BRD4-independent group 4 enhancer GRCh37_chr11:3061281-3062480 [Gene]
  • LOC126861109:BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 [Gene]
  • CARS1-AS1:CARS1 antisense RNA 1 [Gene - HGNC]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • CD81-AS1:CD81 antisense RNA 1 [Gene - HGNC]
  • CD81:CD81 molecule [Gene - OMIM - HGNC]
  • LOC126861112:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:1214179-1215378 [Gene]
  • LOC126861108:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:428546-429745 [Gene]
  • LOC126861110:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787 [Gene]
  • LOC116216126:CRISPRi-validated cis-regulatory element chr11.30 [Gene]
  • LOC116216127:CRISPRi-validated cis-regulatory element chr11.592 [Gene]
  • DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
  • EPS8L2:EPS8 like 2 [Gene - OMIM - HGNC]
  • GATD1-DT:GATD1 divergent transcript [Gene - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HOTS:H19 opposite tumor suppressor [Gene]
  • LOC105274310:H19/IGF2 enhancer region [Gene]
  • H19-ICR:H19/IGF2 imprinting control region [Gene - OMIM]
  • HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
  • INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
  • KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
  • KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
  • KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
  • KRTAP5-AS1:KRTAP5-1/KRTAP5-2 antisense RNA 1 [Gene - HGNC]
  • LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
  • MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
  • MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
  • LOC126861114:MED14-independent group 3 enhancer GRCh37_chr11:1918050-1919249 [Gene]
  • MIR210HG:MIR210 host gene [Gene - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • LOC129390246:MPRA-validated peak1145 silencer [Gene]
  • LOC129390247:MPRA-validated peak1160 silencer [Gene]
  • LOC129390248:MPRA-validated peak1163 silencer [Gene]
  • LOC129390249:MPRA-validated peak1165 silencer [Gene]
  • LOC129390250:MPRA-validated peak1169 silencer [Gene]
  • MRGPRG-AS1:MRGPRG antisense RNA 1 [Gene - HGNC]
  • MRPL23-AS1:MRPL23 antisense RNA 1 [Gene - HGNC]
  • MUC5B-AS1:MUC5B antisense RNA 1 [Gene - HGNC]
  • NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
  • LOC132089927:Neanderthal introgressed variant-containing enhancer experimental_21090 [Gene]
  • LOC132090832:Neanderthal introgressed variant-containing enhancer experimental_21101 [Gene]
  • LOC132089930:Neanderthal introgressed variant-containing enhancer experimental_21160 [Gene]
  • LOC132089931:Neanderthal introgressed variant-containing enhancer experimental_21169 [Gene]
  • LOC132090831:Neanderthal introgressed variant-containing enhancer experimental_21531 [Gene]
  • LOC126861111:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:1060443-1061642 [Gene]
  • PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
  • PRADX:PRC2 and DDX5 associated lncRNA [Gene - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
  • SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
  • LOC124418413:Sharpr-MPRA regulatory region 10567 [Gene]
  • LOC113939920:Sharpr-MPRA regulatory region 10946 [Gene]
  • LOC124418416:Sharpr-MPRA regulatory region 11059 [Gene]
  • LOC121392887:Sharpr-MPRA regulatory region 11801 [Gene]
  • LOC112067719:Sharpr-MPRA regulatory region 13774 [Gene]
  • LOC124418409:Sharpr-MPRA regulatory region 223 [Gene]
  • LOC124418414:Sharpr-MPRA regulatory region 3604 [Gene]
  • LOC124418411:Sharpr-MPRA regulatory region 3787 [Gene]
  • LOC121392888:Sharpr-MPRA regulatory region 4982 [Gene]
  • LOC124418412:Sharpr-MPRA regulatory region 620 [Gene]
  • LOC124418418:Sharpr-MPRA regulatory region 6583 [Gene]
  • LOC124418415:Sharpr-MPRA regulatory region 9407 [Gene]
  • TOLLIP-DT:TOLLIP divergent transcript [Gene - HGNC]
  • LOC110121378:VISTA enhancer hs1488 [Gene]
  • ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • ANO9:anoctamin 9 [Gene - OMIM - HGNC]
  • B4GALNT4:beta-1,4-N-acetyl-galactosaminyltransferase 4 [Gene - OMIM - HGNC]
  • CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
  • CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
  • CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • FAM99A:family with sequence similarity 99 member A [Gene - HGNC]
  • FAM99B:family with sequence similarity 99 member B [Gene - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
  • LOC109623489:insulin repeat instability region [Gene]
  • INS:insulin [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • IFITM1:interferon induced transmembrane protein 1 [Gene - OMIM - HGNC]
  • IFITM2:interferon induced transmembrane protein 2 [Gene - OMIM - HGNC]
  • IFITM3:interferon induced transmembrane protein 3 [Gene - OMIM - HGNC]
  • IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
  • IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
  • LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
  • LINC01150:long intergenic non-protein coding RNA 1150 [Gene - HGNC]
  • LINC01219:long intergenic non-protein coding RNA 1219 [Gene - HGNC]
  • LINC02688:long intergenic non-protein coding RNA 2688 [Gene - HGNC]
  • LINC02708:long intergenic non-protein coding RNA 2708 [Gene - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MIR210:microRNA 210 [Gene - OMIM - HGNC]
  • MIR4298:microRNA 4298 [Gene - HGNC]
  • MIR4686:microRNA 4686 [Gene - HGNC]
  • MIR483:microRNA 483 [Gene - HGNC]
  • MIR6744:microRNA 6744 [Gene - HGNC]
  • MIR675:microRNA 675 [Gene - OMIM - HGNC]
  • MIR7847:microRNA 7847 [Gene - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • LOC106783508:nonconserved acetylation island sequence 52 enhancer [Gene]
  • LOC106799843:nonconserved acetylation island sequence 93 enhancer [Gene]
  • NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
  • OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PTDSS2:phosphatidylserine synthase 2 [Gene - OMIM - HGNC]
  • PKP3:plakophilin 3 [Gene - OMIM - HGNC]
  • PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
  • KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
  • PANO1:proapoptotic nucleolar protein 1 [Gene - HGNC]
  • PRR33:proline rich 33 [Gene - HGNC]
  • PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
  • PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
  • RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • SCT:secretin [Gene - OMIM - HGNC]
  • SIGIRR:single Ig and TIR domain containing [Gene - OMIM - HGNC]
  • SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
  • LOC111718490:skeletal muscle cis-regulatory module in IFITM10 intron [Gene]
  • SNORD131:small nucleolar RNA, C/D box 131 [Gene - HGNC]
  • SNORA52:small nucleolar RNA, H/ACA box 52 [Gene - HGNC]
  • SNORA54:small nucleolar RNA, H/ACA box 54 [Gene - HGNC]
  • SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
  • TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
  • TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
  • TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
  • LOC143666:uncharacterized LOC143666 [Gene]
  • ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.5-15.4
Genomic location:
Preferred name:
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3
HGVS:
  • NC_000011.10:g.(?_218365)_(3377077_?)dup
  • NC_000011.8:g.(?_208365)_(3354883_?)dup
  • NC_000011.9:g.(?_218365)_(3398307_?)dup
Links:
dbVar: nssv578590; dbVar: nsv532277
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
SCV000080977GeneDx
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]

Help

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 GeneDx, SCV000080977.5

#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