CYLD (CYLD lysine 63 deubiquitinase) - Rat Genome Database

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Advanced Search (OLGA)
Gene: CYLD (CYLD lysine 63 deubiquitinase) Homo sapiens
Analyze
Symbol: CYLD
Name: CYLD lysine 63 deubiquitinase
RGD ID: 1319183
HGNC Page HGNC:2584
Description: Enables several functions, including deubiquitinase activity; proline-rich region binding activity; and zinc ion binding activity. Involved in several processes, including negative regulation of NF-kappaB transcription factor activity; protein linear deubiquitination; and regulation of signal transduction. Located in several cellular components, including cytoplasmic side of plasma membrane; microtubule cytoskeleton; and midbody. Implicated in Brooke-Spiegler syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRSS; CDMT; CYLD1; CYLDI; cylindromatosis (turban tumor syndrome); deubiquitinating enzyme CYLD; EAC; FLJ20180; FLJ31664; FLJ78684; FTDALS8; HSPC057; KIAA0849; MFT; MFT1; probable ubiquitin carboxyl-terminal hydrolase CYLD; SBS; TEM; ubiquitin carboxyl-terminal hydrolase CYLD; ubiquitin specific peptidase like 2; ubiquitin thioesterase CYLD; ubiquitin thiolesterase CYLD; ubiquitin-specific-processing protease CYLD; USPL2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381650,742,086 - 50,801,935 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1650,742,050 - 50,801,935 (+)EnsemblGRCh38hg38GRCh38
GRCh371650,775,997 - 50,835,846 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361649,333,462 - 49,393,347 (+)NCBINCBI36Build 36hg18NCBI36
Build 341649,333,485 - 49,390,029NCBI
Celera1635,291,289 - 35,351,164 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1636,663,187 - 36,723,275 (+)NCBIHuRef
CHM1_11652,183,487 - 52,243,322 (+)NCBICHM1_1
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aripiprazole  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
atazanavir sulfate  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP,ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
cypermethrin  (EXP)
DDE  (EXP)
deoxycholic acid  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
emodin  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
furan  (ISO)
gallic acid  (EXP)
gentamycin  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (EXP)
hexadecanoic acid  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
nefazodone  (EXP)
nickel atom  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
raloxifene  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (EXP)
Soman  (ISO)
sorafenib  (EXP)
tetraphene  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triclosan  (EXP)
triptonide  (ISO)
tyrphostin AG 1478  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
CD4-positive or CD8-positive, alpha-beta T cell lineage commitment  (IEA)
homeostasis of number of cells  (IEA)
immune system process  (IEA)
innate immune response  (IDA,IEA)
necroptotic process  (IBA,IEA)
negative regulation of canonical NF-kappaB signal transduction  (IDA)
negative regulation of canonical Wnt signaling pathway  (IMP)
negative regulation of inflammatory response  (IEA,ISS)
negative regulation of interleukin-18-mediated signaling pathway  (IEA,ISS)
negative regulation of JNK cascade  (IBA,IDA,IEA)
negative regulation of NF-kappaB transcription factor activity  (IDA)
negative regulation of non-canonical NF-kappaB signal transduction  (IBA,IDA)
negative regulation of p38MAPK cascade  (IBA,IDA,IEA)
negative regulation of type I interferon production  (TAS)
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway  (TAS)
positive regulation of extrinsic apoptotic signaling pathway  (IBA,IMP)
positive regulation of protein localization  (IEA)
positive regulation of T cell differentiation  (IEA)
positive regulation of T cell receptor signaling pathway  (IEA)
protein deubiquitination  (IDA,IEA,ISO,TAS)
protein K63-linked deubiquitination  (IBA,IEA)
protein linear deubiquitination  (IDA,IEA)
proteolysis  (IEA)
regulation of B cell differentiation  (IEA)
regulation of cilium assembly  (IEA,ISS)
regulation of inflammatory response  (IDA)
regulation of intrinsic apoptotic signaling pathway  (IBA,IMP)
regulation of microtubule cytoskeleton organization  (IMP)
regulation of mitotic cell cycle  (IBA,IMP)
regulation of necroptotic process  (IDA,IEA)
regulation of neurotransmitter receptor localization to postsynaptic specialization membrane  (ISO)
regulation of tumor necrosis factor-mediated signaling pathway  (IDA,IEA,TAS)
regulation protein catabolic process at postsynapse  (ISO)
ripoptosome assembly involved in necroptotic process  (IEA)
Wnt signaling pathway  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Identification of the familial cylindromatosis tumour-suppressor gene. Bignell GR, etal., Nat Genet. 2000 Jun;25(2):160-5.
2. Regulation of NF-kappaB by ubiquitination. Chen J and Chen ZJ, Curr Opin Immunol. 2013 Feb;25(1):4-12. doi: 10.1016/j.coi.2012.12.005. Epub 2013 Jan 8.
3. Deubiquitinases in the regulation of NF-kappaB signaling. Harhaj EW and Dixit VM, Cell Res. 2011 Jan;21(1):22-39. doi: 10.1038/cr.2010.166. Epub 2010 Nov 30.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7493027   PMID:8125298   PMID:8649842   PMID:10048485   PMID:10480375   PMID:10792569   PMID:11042152   PMID:12168954   PMID:12477932   PMID:12917689   PMID:12917690   PMID:12917691  
PMID:14632188   PMID:14676304   PMID:14702039   PMID:15086550   PMID:15226292   PMID:15289313   PMID:15341735   PMID:15489334   PMID:15496400   PMID:15854031   PMID:15870263   PMID:16135788  
PMID:16230348   PMID:16344560   PMID:16350444   PMID:16500080   PMID:16501569   PMID:16627981   PMID:16713561   PMID:16774947   PMID:17081983   PMID:17148452   PMID:17495026   PMID:17606441  
PMID:17608805   PMID:17609426   PMID:17662085   PMID:17851586   PMID:17875891   PMID:17925880   PMID:17981138   PMID:18222923   PMID:18234730   PMID:18242958   PMID:18245814   PMID:18313383  
PMID:18332137   PMID:18363762   PMID:18497946   PMID:18636086   PMID:19076795   PMID:19201866   PMID:19373254   PMID:19462465   PMID:19481526   PMID:19615732   PMID:19800320   PMID:19807742  
PMID:19893491   PMID:19911186   PMID:19913121   PMID:19917957   PMID:19951577   PMID:20132422   PMID:20151946   PMID:20194890   PMID:20227366   PMID:20347313   PMID:20414373   PMID:20502185  
PMID:20593489   PMID:20607853   PMID:20622874   PMID:20628086   PMID:20797623   PMID:20832754   PMID:20838385   PMID:20854080   PMID:20972631   PMID:21389835   PMID:21408173   PMID:21420166  
PMID:21478324   PMID:21498625   PMID:21525013   PMID:21552290   PMID:21577203   PMID:21605102   PMID:21718647   PMID:21873635   PMID:21900959   PMID:21931648   PMID:21988832   PMID:22017589  
PMID:22019778   PMID:22037414   PMID:22049921   PMID:22057290   PMID:22077640   PMID:22157808   PMID:22297296   PMID:22362744   PMID:22412388   PMID:22469839   PMID:22491319   PMID:22504420  
PMID:22689134   PMID:22832488   PMID:22848449   PMID:22895009   PMID:22990857   PMID:23002441   PMID:23171463   PMID:23300340   PMID:23404581   PMID:23405219   PMID:23453969   PMID:23567228  
PMID:23575688   PMID:23584127   PMID:23641715   PMID:23694822   PMID:23725390   PMID:23832602   PMID:23861985   PMID:23879700   PMID:24092863   PMID:24098568   PMID:24104553   PMID:24247569  
PMID:24255178   PMID:24261740   PMID:24398777   PMID:24461064   PMID:24469800   PMID:24552808   PMID:24577083   PMID:24613305   PMID:24614225   PMID:24760882   PMID:24867235   PMID:24909169  
PMID:24981860   PMID:25117167   PMID:25130432   PMID:25134987   PMID:25234269   PMID:25281560   PMID:25329885   PMID:25347032   PMID:25389768   PMID:25501176   PMID:25565632   PMID:25595906  
PMID:25641919   PMID:25642632   PMID:25751345   PMID:25782638   PMID:25824771   PMID:25923723   PMID:25935309   PMID:26017671   PMID:26056944   PMID:26186194   PMID:26271973   PMID:26329847  
PMID:26354767   PMID:26370355   PMID:26638075   PMID:26670046   PMID:26673895   PMID:26711782   PMID:26717101   PMID:26719415   PMID:26802121   PMID:26861065   PMID:26972000   PMID:26982322  
PMID:26997266   PMID:27189061   PMID:27279133   PMID:27307491   PMID:27357419   PMID:27391066   PMID:27448305   PMID:27458237   PMID:27545878   PMID:27552911   PMID:27561390   PMID:27570065  
PMID:27591049   PMID:27681433   PMID:27738385   PMID:27746020   PMID:28035050   PMID:28184924   PMID:28189684   PMID:28295222   PMID:28380382   PMID:28514442   PMID:28534976   PMID:28566736  
PMID:28572092   PMID:28629782   PMID:28718761   PMID:28751569   PMID:28840581   PMID:28881612   PMID:28900035   PMID:28901464   PMID:28973854   PMID:29054757   PMID:29166644   PMID:29235674  
PMID:29286108   PMID:29291351   PMID:29296520   PMID:29395067   PMID:29463883   PMID:29478249   PMID:29507755   PMID:29568061   PMID:29576527   PMID:29755980   PMID:29778605   PMID:29807073  
PMID:29808164   PMID:29933112   PMID:29974194   PMID:29987050   PMID:30132887   PMID:30269739   PMID:30285829   PMID:30315770   PMID:30323974   PMID:30362575   PMID:30388174   PMID:30410068  
PMID:30420664   PMID:30542706   PMID:30554661   PMID:30561431   PMID:31067453   PMID:31101826   PMID:31260673   PMID:31366726   PMID:31406156   PMID:31462741   PMID:31624251   PMID:31635163  
PMID:31753913   PMID:31762063   PMID:31833565   PMID:31860169   PMID:31885317   PMID:31898971   PMID:32185393   PMID:32298062   PMID:32303555   PMID:32410369   PMID:32418059   PMID:32441799  
PMID:32453962   PMID:32461623   PMID:32602581   PMID:32678957   PMID:32705175   PMID:32738418   PMID:32783365   PMID:32862616   PMID:32892208   PMID:32901872   PMID:33031450   PMID:33031609  
PMID:33277362   PMID:33329596   PMID:33378022   PMID:33390248   PMID:33507567   PMID:33545631   PMID:33629796   PMID:33654169   PMID:33669244   PMID:33957083   PMID:33961781   PMID:33999445  
PMID:34079125   PMID:34159380   PMID:34326699   PMID:34497368   PMID:34610306   PMID:34709727   PMID:34711178   PMID:34742871   PMID:34853447   PMID:34927777   PMID:34999730   PMID:35025147  
PMID:35102251   PMID:35131382   PMID:35140242   PMID:35271311   PMID:35332268   PMID:35384245   PMID:35563538   PMID:35779906   PMID:35844135   PMID:35914814   PMID:36000313   PMID:36180997  
PMID:36215168   PMID:36232890   PMID:36268590   PMID:36538852   PMID:36640323   PMID:36779422   PMID:36846565   PMID:36922488   PMID:36931259   PMID:37043537   PMID:37162682   PMID:37176077  
PMID:37359274   PMID:37549179   PMID:37725175   PMID:37865315   PMID:38246916   PMID:38287022   PMID:38319288   PMID:38579060   PMID:38580884   PMID:38803224   PMID:39122678   PMID:39259342  


Genomics

Comparative Map Data
CYLD
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381650,742,086 - 50,801,935 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1650,742,050 - 50,801,935 (+)EnsemblGRCh38hg38GRCh38
GRCh371650,775,997 - 50,835,846 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361649,333,462 - 49,393,347 (+)NCBINCBI36Build 36hg18NCBI36
Build 341649,333,485 - 49,390,029NCBI
Celera1635,291,289 - 35,351,164 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1636,663,187 - 36,723,275 (+)NCBIHuRef
CHM1_11652,183,487 - 52,243,322 (+)NCBICHM1_1
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBIT2T-CHM13v2.0
Cyld
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39889,423,506 - 89,478,574 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl889,423,675 - 89,478,573 (+)EnsemblGRCm39 Ensembl
GRCm38888,696,878 - 88,751,946 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl888,697,028 - 88,751,945 (+)EnsemblGRCm38mm10GRCm38
MGSCv37891,220,927 - 91,275,844 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36891,587,180 - 91,638,560 (+)NCBIMGSCv36mm8
Celera892,977,380 - 93,032,328 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map843.51NCBI
Cyld
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81934,487,491 - 34,547,311 (-)NCBIGRCr8
mRatBN7.21918,310,632 - 18,373,696 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1918,314,019 - 18,373,658 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1919,994,711 - 20,053,224 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01925,189,306 - 25,247,825 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01928,146,665 - 28,205,606 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01919,264,984 - 19,323,817 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1919,265,164 - 19,315,357 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01930,298,220 - 30,357,107 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41919,616,209 - 19,619,221 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1918,203,184 - 18,261,162 (-)NCBICelera
Cytogenetic Map19p11NCBI
Cyld
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554338,788,655 - 8,845,925 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554338,788,867 - 8,845,925 (+)NCBIChiLan1.0ChiLan1.0
CYLD
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21860,198,381 - 60,258,607 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11666,104,132 - 66,168,240 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01631,004,393 - 31,064,546 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11649,882,751 - 49,942,629 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1649,882,751 - 49,942,629 (+)Ensemblpanpan1.1panPan2
CYLD
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1264,561,684 - 64,628,829 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl264,562,503 - 64,628,175 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha261,134,885 - 61,201,742 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0265,106,294 - 65,174,257 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl265,102,752 - 65,174,189 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1261,931,223 - 61,997,967 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0262,949,929 - 63,017,871 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0263,838,510 - 63,905,381 (-)NCBIUU_Cfam_GSD_1.0
Cyld
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934955,773,668 - 55,838,158 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364753,750,882 - 3,812,118 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364753,750,917 - 3,812,118 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CYLD
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl634,059,081 - 34,121,264 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1634,058,091 - 34,121,939 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2630,402,013 - 30,416,351 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CYLD
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1536,541,022 - 36,600,874 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl536,541,764 - 36,595,417 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604739,901,441 - 39,961,399 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cyld
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247575,895,912 - 5,953,485 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CYLD
351 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378743.1(CYLD):c.2469+1G>A single nucleotide variant Familial cylindromatosis [RCV000005564] Chr16:50793665 [GRCh38]
Chr16:50827576 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter) single nucleotide variant Familial cylindromatosis [RCV000005565]|not provided [RCV002281697]|not specified [RCV000120624] Chr16:50792627 [GRCh38]
Chr16:50826538 [GRCh37]
Chr16:16q12.1		 pathogenic|not provided
NM_001378743.1(CYLD):c.2252del (p.Cys751fs) deletion Brooke-Spiegler syndrome [RCV000005567]|Familial cylindromatosis [RCV000005566] Chr16:50792607 [GRCh38]
Chr16:50826518 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2172del (p.Val725fs) deletion Brooke-Spiegler syndrome [RCV000005568] Chr16:50791619 [GRCh38]
Chr16:50825530 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2240_2241del (p.Glu747fs) microsatellite Familial multiple trichoepitheliomata [RCV000005569] Chr16:50791687..50791688 [GRCh38]
Chr16:50825598..50825599 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1826+2T>G single nucleotide variant Familial multiple trichoepitheliomata [RCV000005570] Chr16:50782468 [GRCh38]
Chr16:50816379 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly) single nucleotide variant Brooke-Spiegler syndrome [RCV000005572]|Familial multiple trichoepitheliomata [RCV000005571] Chr16:50791689 [GRCh38]
Chr16:50825600 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) single nucleotide variant Brooke-Spiegler syndrome [RCV000005575]|Brooke-Spiegler syndrome [RCV002496269]|Familial cylindromatosis [RCV000005573]|Familial multiple trichoepitheliomata [RCV000005574]|not provided [RCV005089180] Chr16:50796443 [GRCh38]
Chr16:50830354 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.561dup (p.Gln188fs) duplication Familial cylindromatosis [RCV000005576] Chr16:50751655..50751656 [GRCh38]
Chr16:50785566..50785567 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1392dup (p.Gly465fs) duplication Brooke-Spiegler syndrome [RCV000005577] Chr16:50779917..50779918 [GRCh38]
Chr16:50813828..50813829 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1950-1_1952del deletion Familial cylindromatosis [RCV000005578] Chr16:50786852..50786855 [GRCh38]
Chr16:50820763..50820766 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1518+74C>G single nucleotide variant not provided [RCV001564305] Chr16:50780118 [GRCh38]
Chr16:50814029 [GRCh37]
Chr16:16q12.1		 likely benign
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|See cases [RCV000052404] Chr16:46466829..52314178 [GRCh38]
Chr16:46500741..52348090 [GRCh37]
Chr16:45058242..50905591 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 copy number loss See cases [RCV000053309] Chr16:46466829..51939304 [GRCh38]
Chr16:46500741..51973216 [GRCh37]
Chr16:45058242..50530717 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 copy number loss See cases [RCV000053310] Chr16:46466829..51673196 [GRCh38]
Chr16:46500741..51707107 [GRCh37]
Chr16:45058242..50264608 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 copy number loss See cases [RCV000053328] Chr16:46471520..52405956 [GRCh38]
Chr16:46505432..52439868 [GRCh37]
Chr16:45062933..50997369 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 copy number loss See cases [RCV000053329] Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1(chr16:48156593-52220374)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053330]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053330]|See cases [RCV000053330] Chr16:48156593..52220374 [GRCh38]
Chr16:48190504..52254286 [GRCh37]
Chr16:46748005..50811787 [NCBI36]
Chr16:16q12.1		 pathogenic
GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1 copy number loss See cases [RCV000053331] Chr16:49740807..51876620 [GRCh38]
Chr16:49774718..51910531 [GRCh37]
Chr16:48332219..50468032 [NCBI36]
Chr16:16q12.1		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 copy number loss See cases [RCV000053332] Chr16:50784329..55566715 [GRCh38]
Chr16:50818240..55600627 [GRCh37]
Chr16:49375741..54158128 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
NM_001378743.1(CYLD):c.1933G>A (p.Val645Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003467072]|not specified [RCV000120623] Chr16:50784435 [GRCh38]
Chr16:50818346 [GRCh37]
Chr16:16q12.1		 uncertain significance|not provided
NM_001378743.1(CYLD):c.344A>G (p.Asn115Ser) single nucleotide variant not specified [RCV000120625] Chr16:50750042 [GRCh38]
Chr16:50783953 [GRCh37]
Chr16:16q12.1		 not provided
NM_001378743.1(CYLD):c.665C>A (p.Thr222Lys) single nucleotide variant Brooke-Spiegler syndrome [RCV001117148]|Familial cylindromatosis [RCV001117150]|Familial multiple trichoepitheliomata [RCV001117149]|not specified [RCV000120626] Chr16:50751764 [GRCh38]
Chr16:50785675 [GRCh37]
Chr16:16q12.1		 uncertain significance|not provided
NM_001378743.1(CYLD):c.988G>C (p.Gly330Arg) single nucleotide variant not specified [RCV000120627] Chr16:50776244 [GRCh38]
Chr16:50810155 [GRCh37]
Chr16:16q12.1		 not provided
NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu) single nucleotide variant Brooke-Spiegler syndrome [RCV000345237]|Familial cylindromatosis [RCV000392635]|Familial multiple trichoepitheliomata [RCV000309052]|Trichoepithelioma, multiple familial, 1 [RCV003315744]|not specified [RCV000120628] Chr16:50779818 [GRCh38]
Chr16:50813729 [GRCh37]
Chr16:16q12.1		 benign|likely benign|not provided
NM_001378743.1(CYLD):c.2041+50C>A single nucleotide variant not specified [RCV000122370] Chr16:50786996 [GRCh38]
Chr16:50820907 [GRCh37]
Chr16:16q12.1		 not provided
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 copy number loss See cases [RCV000137306] Chr16:46466829..52422170 [GRCh38]
Chr16:46500741..52456082 [GRCh37]
Chr16:45058242..51013583 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 copy number gain See cases [RCV000137170] Chr16:46466829..52355793 [GRCh38]
Chr16:46500741..52389705 [GRCh37]
Chr16:45058242..50947206 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 copy number loss See cases [RCV000137722] Chr16:49570553..53467065 [GRCh38]
Chr16:49604464..53500977 [GRCh37]
Chr16:48161965..52058478 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter) single nucleotide variant Familial cylindromatosis [RCV000257934] Chr16:50779853 [GRCh38]
Chr16:50813764 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2342T>C (p.Leu781Pro) single nucleotide variant Brooke-Spiegler syndrome [RCV000257935] Chr16:50792697 [GRCh38]
Chr16:50826608 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs) deletion Brooke-Spiegler syndrome [RCV000257938] Chr16:50776221..50776230 [GRCh38]
Chr16:50810132..50810141 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) deletion Familial cylindromatosis [RCV000257939] Chr16:50793601..50793602 [GRCh38]
Chr16:50827512..50827513 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1950-5_1950-2del deletion Familial multiple trichoepitheliomata [RCV000257945] Chr16:50786849..50786852 [GRCh38]
Chr16:50820760..50820763 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1599dup (p.Val534fs) duplication Brooke-Spiegler syndrome [RCV000257947] Chr16:50781323..50781324 [GRCh38]
Chr16:50815234..50815235 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1684+3A>C single nucleotide variant Familial cylindromatosis [RCV000257948] Chr16:50781414 [GRCh38]
Chr16:50815325 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs) deletion Brooke-Spiegler syndrome [RCV003988838]|Familial cylindromatosis [RCV000257950]|not provided [RCV005090320] Chr16:50792644..50792648 [GRCh38]
Chr16:50826555..50826559 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2350+1G>T single nucleotide variant Familial cylindromatosis [RCV000257951] Chr16:50792706 [GRCh38]
Chr16:50826617 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs) deletion Familial cylindromatosis [RCV000257953]|not provided [RCV005090318] Chr16:50754339..50754342 [GRCh38]
Chr16:50788250..50788253 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys) single nucleotide variant Brooke-Spiegler syndrome [RCV000257955] Chr16:50787852 [GRCh38]
Chr16:50821763 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter) single nucleotide variant Familial cylindromatosis [RCV000257960] Chr16:50779889 [GRCh38]
Chr16:50813800 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs) duplication Familial cylindromatosis [RCV000257964] Chr16:50776242..50776243 [GRCh38]
Chr16:50810153..50810154 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs) deletion Familial cylindromatosis [RCV000257967] Chr16:50781383..50781386 [GRCh38]
Chr16:50815294..50815297 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2515del (p.Ser839fs) deletion Familial cylindromatosis [RCV000257968] Chr16:50794257 [GRCh38]
Chr16:50828168 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter) single nucleotide variant Familial cylindromatosis [RCV000257974] Chr16:50782411 [GRCh38]
Chr16:50816322 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1950-2_1953del deletion Familial cylindromatosis [RCV000257975] Chr16:50786852..50786857 [GRCh38]
Chr16:50820763..50820768 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) single nucleotide variant Brooke-Spiegler syndrome [RCV001814137]|Brooke-Spiegler syndrome [RCV005016661]|Familial cylindromatosis [RCV000257976]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469207]|not provided [RCV000760471] Chr16:50777915 [GRCh38]
Chr16:50811826 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) single nucleotide variant Brooke-Spiegler syndrome [RCV002466483]|Familial cylindromatosis [RCV000257977]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469208] Chr16:50792654 [GRCh38]
Chr16:50826565 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.911dup (p.Ala305fs) duplication Familial cylindromatosis [RCV000257981] Chr16:50754419..50754420 [GRCh38]
Chr16:50788330..50788331 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs) duplication Brooke-Spiegler syndrome [RCV000257982] Chr16:50791586..50791587 [GRCh38]
Chr16:50825497..50825498 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) deletion Familial cylindromatosis [RCV000257985] Chr16:50793584..50793585 [GRCh38]
Chr16:50827495..50827496 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs) duplication Brooke-Spiegler syndrome [RCV000257987]|not provided [RCV003574725] Chr16:50781263..50781264 [GRCh38]
Chr16:50815174..50815175 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter) single nucleotide variant Familial cylindromatosis [RCV000257992] Chr16:50794311 [GRCh38]
Chr16:50828222 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro) single nucleotide variant Familial cylindromatosis [RCV000257995] Chr16:50781411 [GRCh38]
Chr16:50815322 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2041G>C (p.Asp681His) single nucleotide variant Familial cylindromatosis [RCV000257999] Chr16:50786946 [GRCh38]
Chr16:50820857 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2242-2A>G single nucleotide variant Familial cylindromatosis [RCV000258001] Chr16:50792595 [GRCh38]
Chr16:50826506 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp) single nucleotide variant Familial cylindromatosis [RCV000258002]|not provided [RCV005090319] Chr16:50782418 [GRCh38]
Chr16:50816329 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 copy number loss Breast ductal adenocarcinoma [RCV000207292] Chr16:48543083..53879916 [GRCh38]
Chr16:48576994..53913828 [GRCh37]
Chr16:16q12.1-12.2		 uncertain significance
NM_001378743.1(CYLD):c.*1245T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000315963]|Familial cylindromatosis [RCV000282082]|Familial multiple trichoepitheliomata [RCV000374185] Chr16:50797753 [GRCh38]
Chr16:50831664 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*2615A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000318688]|Familial cylindromatosis [RCV000282392]|Familial multiple trichoepitheliomata [RCV000372355] Chr16:50799123 [GRCh38]
Chr16:50833034 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*2150A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000327998]|Familial cylindromatosis [RCV000283319]|Familial multiple trichoepitheliomata [RCV000377886] Chr16:50798658 [GRCh38]
Chr16:50832569 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4947G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000341404]|Familial cylindromatosis [RCV000284026]|Familial multiple trichoepitheliomata [RCV000393581] Chr16:50801455 [GRCh38]
Chr16:50835366 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*47G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000405239]|Familial cylindromatosis [RCV000301407]|Familial multiple trichoepitheliomata [RCV000353954] Chr16:50796555 [GRCh38]
Chr16:50830466 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4567C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000302298]|Familial cylindromatosis [RCV000359417]|Familial multiple trichoepitheliomata [RCV000392298] Chr16:50801075 [GRCh38]
Chr16:50834986 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*1590T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000266087]|Familial cylindromatosis [RCV000357419]|Familial multiple trichoepitheliomata [RCV000300149]|not provided [RCV003418002] Chr16:50798098 [GRCh38]
Chr16:50832009 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4388C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000321376]|Familial cylindromatosis [RCV000266050]|Familial multiple trichoepitheliomata [RCV000365480] Chr16:50800896 [GRCh38]
Chr16:50834807 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.543C>T (p.Tyr181=) single nucleotide variant Brooke-Spiegler syndrome [RCV000321634]|Familial cylindromatosis [RCV000266495]|Familial multiple trichoepitheliomata [RCV000361140] Chr16:50751642 [GRCh38]
Chr16:50785553 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*698T>G single nucleotide variant Brooke-Spiegler syndrome [RCV000323902]|Familial cylindromatosis [RCV000376245]|Familial multiple trichoepitheliomata [RCV000283955] Chr16:50797206 [GRCh38]
Chr16:50831117 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*3229C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000407321]|Familial cylindromatosis [RCV000284579]|Familial multiple trichoepitheliomata [RCV000339625]|not provided [RCV004694277] Chr16:50799737 [GRCh38]
Chr16:50833648 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2465C>T (p.Thr822Ile) single nucleotide variant Brooke-Spiegler syndrome [RCV000405511]|Familial cylindromatosis [RCV000341045]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003470313]|Trichoepithelioma, multiple familial, 2 [RCV000302448] Chr16:50793660 [GRCh38]
Chr16:50827571 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1831G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000336682]|Familial cylindromatosis [RCV000407207]|Familial multiple trichoepitheliomata [RCV000302842] Chr16:50798339 [GRCh38]
Chr16:50832250 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4470C>A single nucleotide variant Brooke-Spiegler syndrome [RCV000267341]|Familial cylindromatosis [RCV000317839]|Familial multiple trichoepitheliomata [RCV000380631] Chr16:50800978 [GRCh38]
Chr16:50834889 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2556A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000317670]|Familial cylindromatosis [RCV000267743]|Familial multiple trichoepitheliomata [RCV000357784] Chr16:50799064 [GRCh38]
Chr16:50832975 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3679T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000376254]|Familial cylindromatosis [RCV000321514]|Familial multiple trichoepitheliomata [RCV000286454] Chr16:50800187 [GRCh38]
Chr16:50834098 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.1473C>T (p.Ile491=) single nucleotide variant Brooke-Spiegler syndrome [RCV000390589]|Familial cylindromatosis [RCV000304442]|Familial multiple trichoepitheliomata [RCV000361447]|Trichoepithelioma, multiple familial, 1 [RCV003316480]|not provided [RCV000861068] Chr16:50779999 [GRCh38]
Chr16:50813910 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*841G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000366033]|Familial cylindromatosis [RCV000326702]|Familial multiple trichoepitheliomata [RCV000269336]|not provided [RCV004715964] Chr16:50797349 [GRCh38]
Chr16:50831260 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*3739C>G single nucleotide variant Brooke-Spiegler syndrome [RCV000269695]|Familial cylindromatosis [RCV000363916]|Familial multiple trichoepitheliomata [RCV000310793] Chr16:50800247 [GRCh38]
Chr16:50834158 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*3469T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000270324]|Familial cylindromatosis [RCV000314937]|Familial multiple trichoepitheliomata [RCV000369594]|not provided [RCV003418004] Chr16:50799977 [GRCh38]
Chr16:50833888 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.2412C>T (p.Asp804=) single nucleotide variant Brooke-Spiegler syndrome [RCV000287584]|Familial cylindromatosis [RCV000407073]|Familial multiple trichoepitheliomata [RCV000344948]|Trichoepithelioma, multiple familial, 1 [RCV003316482]|not provided [RCV001636902] Chr16:50793607 [GRCh38]
Chr16:50827518 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*3148T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000383728]|Familial cylindromatosis [RCV000347858]|Familial multiple trichoepitheliomata [RCV000288251]|not provided [RCV003422268] Chr16:50799656 [GRCh38]
Chr16:50833567 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*3614C>A single nucleotide variant Brooke-Spiegler syndrome [RCV000324998]|Familial cylindromatosis [RCV000271120]|Familial multiple trichoepitheliomata [RCV000384272] Chr16:50800122 [GRCh38]
Chr16:50834033 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.126G>A (p.Pro42=) single nucleotide variant Brooke-Spiegler syndrome [RCV000366568]|Familial cylindromatosis [RCV000271988]|Familial multiple trichoepitheliomata [RCV000308388]|not provided [RCV005090478] Chr16:50749824 [GRCh38]
Chr16:50783735 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4561G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000346744]|Familial cylindromatosis [RCV000401157]|Familial multiple trichoepitheliomata [RCV000289482]|not provided [RCV004715087] Chr16:50801069 [GRCh38]
Chr16:50834980 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*2710C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000402393]|Familial cylindromatosis [RCV000344606]|Familial multiple trichoepitheliomata [RCV000289662] Chr16:50799218 [GRCh38]
Chr16:50833129 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*4888_*4889del deletion Brooke-Spiegler syndrome [RCV000289841]|Familial cylindromatosis [RCV000347085]|Trichoepithelioma, multiple familial, 2 [RCV000390118] Chr16:50801396..50801397 [GRCh38]
Chr16:50835307..50835308 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*382T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000371400]|Familial cylindromatosis [RCV000313834]|Familial multiple trichoepitheliomata [RCV000274495] Chr16:50796890 [GRCh38]
Chr16:50830801 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*2646G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000387151]|Familial cylindromatosis [RCV000352325]|Familial multiple trichoepitheliomata [RCV000292862] Chr16:50799154 [GRCh38]
Chr16:50833065 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.2319G>A (p.Leu773=) single nucleotide variant Brooke-Spiegler syndrome [RCV000293316]|Familial cylindromatosis [RCV000346160]|Familial multiple trichoepitheliomata [RCV000384372]|not provided [RCV003574741] Chr16:50792674 [GRCh38]
Chr16:50826585 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*1341T>G single nucleotide variant Brooke-Spiegler syndrome [RCV000392792]|Familial cylindromatosis [RCV000293379]|Familial multiple trichoepitheliomata [RCV000345944] Chr16:50797849 [GRCh38]
Chr16:50831760 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr) single nucleotide variant Brooke-Spiegler syndrome [RCV000348615]|Familial cylindromatosis [RCV000293720]|Familial multiple trichoepitheliomata [RCV000388023]|not provided [RCV005055876] Chr16:50779698 [GRCh38]
Chr16:50813609 [GRCh37]
Chr16:16q12.1		 benign|likely benign|uncertain significance
NM_001378743.1(CYLD):c.2145T>C (p.Tyr715=) single nucleotide variant Brooke-Spiegler syndrome [RCV000385516]|Familial cylindromatosis [RCV000275842]|Familial multiple trichoepitheliomata [RCV000333288] Chr16:50791594 [GRCh38]
Chr16:50825505 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1983T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000354286]|Familial cylindromatosis [RCV000296875]|Familial multiple trichoepitheliomata [RCV000275843] Chr16:50798491 [GRCh38]
Chr16:50832402 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*5272C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000276489]|Familial cylindromatosis [RCV000368677]|Familial multiple trichoepitheliomata [RCV000311754] Chr16:50801780 [GRCh38]
Chr16:50835691 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*1667G>T single nucleotide variant Brooke-Spiegler syndrome [RCV000259927]|Familial cylindromatosis [RCV000317446]|Familial multiple trichoepitheliomata [RCV000388252] Chr16:50798175 [GRCh38]
Chr16:50832086 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4494G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000350765]|Familial cylindromatosis [RCV000295804]|Familial multiple trichoepitheliomata [RCV000385373] Chr16:50801002 [GRCh38]
Chr16:50834913 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4885A>T single nucleotide variant Brooke-Spiegler syndrome [RCV000382325]|Familial cylindromatosis [RCV000325361]|Familial multiple trichoepitheliomata [RCV000296230] Chr16:50801393 [GRCh38]
Chr16:50835304 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.1166C>G (p.Thr389Arg) single nucleotide variant Brooke-Spiegler syndrome [RCV000352083]|Familial cylindromatosis [RCV000278230]|Familial multiple trichoepitheliomata [RCV000372761]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003470312] Chr16:50779692 [GRCh38]
Chr16:50813603 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*779G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000336608]|Familial cylindromatosis [RCV000278284]|Familial multiple trichoepitheliomata [RCV000407966]|not provided [RCV003418001] Chr16:50797287 [GRCh38]
Chr16:50831198 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*3070A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000261645]|Familial cylindromatosis [RCV000330971]|Familial multiple trichoepitheliomata [RCV000385450] Chr16:50799578 [GRCh38]
Chr16:50833489 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*5086A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000354360]|Familial cylindromatosis [RCV000297191]|Familial multiple trichoepitheliomata [RCV000393578] Chr16:50801594 [GRCh38]
Chr16:50835505 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.2109-10G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000316033]|Familial cylindromatosis [RCV000263052]|Familial multiple trichoepitheliomata [RCV000372945]|Trichoepithelioma, multiple familial, 1 [RCV003316481]|not provided [RCV001538964] Chr16:50791548 [GRCh38]
Chr16:50825459 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.922+9C>A single nucleotide variant Brooke-Spiegler syndrome [RCV000318170]|Familial cylindromatosis [RCV000376328]|Familial multiple trichoepitheliomata [RCV000263014] Chr16:50775183 [GRCh38]
Chr16:50809094 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*2236C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000279666]|Familial cylindromatosis [RCV000343028]|Familial multiple trichoepitheliomata [RCV000378870] Chr16:50798744 [GRCh38]
Chr16:50832655 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.1503C>T (p.Leu501=) single nucleotide variant Brooke-Spiegler syndrome [RCV000303206]|CYLD-related disorder [RCV003969903]|Familial cylindromatosis [RCV000264382]|Familial multiple trichoepitheliomata [RCV000355595] Chr16:50780029 [GRCh38]
Chr16:50813940 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*1102G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000264465]|Familial cylindromatosis [RCV000360395]|Familial multiple trichoepitheliomata [RCV000321999] Chr16:50797610 [GRCh38]
Chr16:50831521 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*2305A>T single nucleotide variant Brooke-Spiegler syndrome [RCV000280681]|Familial cylindromatosis [RCV000408114]|Familial multiple trichoepitheliomata [RCV000334838] Chr16:50798813 [GRCh38]
Chr16:50832724 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*4485G>C single nucleotide variant Brooke-Spiegler syndrome [RCV000374964]|Familial cylindromatosis [RCV000280411]|Familial multiple trichoepitheliomata [RCV000330886] Chr16:50800993 [GRCh38]
Chr16:50834904 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4702C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000356844]|Familial cylindromatosis [RCV000261089]|Familial multiple trichoepitheliomata [RCV000318356] Chr16:50801210 [GRCh38]
Chr16:50835121 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*5384A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000315056]|Familial cylindromatosis [RCV000362689]|Familial multiple trichoepitheliomata [RCV000270517] Chr16:50801892 [GRCh38]
Chr16:50835803 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.-124+1988A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000281466]|Familial cylindromatosis [RCV000407633]|Familial multiple trichoepitheliomata [RCV000339990] Chr16:50744829 [GRCh38]
Chr16:50778740 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2438G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000365623]|Familial cylindromatosis [RCV000271204]|Familial multiple trichoepitheliomata [RCV000321559] Chr16:50798946 [GRCh38]
Chr16:50832857 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*403T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000365459]|Familial cylindromatosis [RCV000331803]|Familial multiple trichoepitheliomata [RCV000273126] Chr16:50796911 [GRCh38]
Chr16:50830822 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4841G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000273687]|Familial cylindromatosis [RCV000331085]|Familial multiple trichoepitheliomata [RCV000388179] Chr16:50801349 [GRCh38]
Chr16:50835260 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3384G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000273910]|Familial cylindromatosis [RCV000299718]|Familial multiple trichoepitheliomata [RCV000368480] Chr16:50799892 [GRCh38]
Chr16:50833803 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3722T>G single nucleotide variant Brooke-Spiegler syndrome [RCV000372826]|Familial cylindromatosis [RCV000341480]|Familial multiple trichoepitheliomata [RCV000278886] Chr16:50800230 [GRCh38]
Chr16:50834141 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.-229G>C single nucleotide variant Brooke-Spiegler syndrome [RCV000284855]|Familial cylindromatosis [RCV000379223]|Familial multiple trichoepitheliomata [RCV000324789] Chr16:50742099 [GRCh38]
Chr16:50776010 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*468A>C single nucleotide variant Brooke-Spiegler syndrome [RCV000325794]|Familial cylindromatosis [RCV000286124]|Familial multiple trichoepitheliomata [RCV000382834] Chr16:50796976 [GRCh38]
Chr16:50830887 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3000C>G single nucleotide variant Brooke-Spiegler syndrome [RCV000315722]|Familial cylindromatosis [RCV000356363]|Familial multiple trichoepitheliomata [RCV000260461] Chr16:50799508 [GRCh38]
Chr16:50833419 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1308A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000352119]|Familial cylindromatosis [RCV000294871]|Familial multiple trichoepitheliomata [RCV000372868] Chr16:50797816 [GRCh38]
Chr16:50831727 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3119del deletion Brooke-Spiegler syndrome [RCV000295900]|Familial cylindromatosis [RCV000382145]|Trichoepithelioma, multiple familial, 2 [RCV000332200]|not provided [RCV003418003] Chr16:50799620 [GRCh38]
Chr16:50833531 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*2121_*2122del deletion Brooke-Spiegler syndrome [RCV000384529]|Familial cylindromatosis [RCV000327606]|Trichoepithelioma, multiple familial, 2 [RCV000272919] Chr16:50798615..50798616 [GRCh38]
Chr16:50832526..50832527 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1575G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000306461]|Familial cylindromatosis [RCV000345013]|Familial multiple trichoepitheliomata [RCV000392804]|not provided [RCV003409500] Chr16:50798083 [GRCh38]
Chr16:50831994 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*2369G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000405713]|Familial cylindromatosis [RCV000306239]|Familial multiple trichoepitheliomata [RCV000369208] Chr16:50798877 [GRCh38]
Chr16:50832788 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*2122del deletion Brooke-Spiegler syndrome [RCV000314663]|Familial cylindromatosis [RCV000274799]|Trichoepithelioma, multiple familial, 2 [RCV000366976] Chr16:50798615 [GRCh38]
Chr16:50832526 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*837A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000403655]|Familial cylindromatosis [RCV000367049]|Familial multiple trichoepitheliomata [RCV000308976]|not provided [RCV004715963] Chr16:50797345 [GRCh38]
Chr16:50831256 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*2856T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000359531]|Familial cylindromatosis [RCV000392201]|Familial multiple trichoepitheliomata [RCV000309712] Chr16:50799364 [GRCh38]
Chr16:50833275 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) single nucleotide variant Brooke-Spiegler syndrome [RCV000311859]|Familial cylindromatosis [RCV000404707]|Familial multiple trichoepitheliomata [RCV000370163]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003469254]|not provided [RCV002264928] Chr16:50749757 [GRCh38]
Chr16:50783668 [GRCh37]
Chr16:16q12.1		 benign|uncertain significance
NM_001378743.1(CYLD):c.*3731C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000398890]|Familial cylindromatosis [RCV000312871]|Familial multiple trichoepitheliomata [RCV000338573] Chr16:50800239 [GRCh38]
Chr16:50834150 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.*1727T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000330693]|Familial cylindromatosis [RCV000387600]|Familial multiple trichoepitheliomata [RCV000277496] Chr16:50798235 [GRCh38]
Chr16:50832146 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3736G>A single nucleotide variant Brooke-Spiegler syndrome [RCV000408143]|Familial cylindromatosis [RCV000348894]|Familial multiple trichoepitheliomata [RCV000313954]|not provided [RCV003418005] Chr16:50800244 [GRCh38]
Chr16:50834155 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.*831C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000314741]|Familial cylindromatosis [RCV000335580]|Familial multiple trichoepitheliomata [RCV000407961] Chr16:50797339 [GRCh38]
Chr16:50831250 [GRCh37]
Chr16:16q12.1		 benign|uncertain significance
NM_001378743.1(CYLD):c.*2335T>C single nucleotide variant Brooke-Spiegler syndrome [RCV000314862]|Familial cylindromatosis [RCV000408122]|Familial multiple trichoepitheliomata [RCV000349747]|not provided [RCV004715086] Chr16:50798843 [GRCh38]
Chr16:50832754 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.-23A>C single nucleotide variant Brooke-Spiegler syndrome [RCV000336578]|Familial cylindromatosis [RCV000407638]|Familial multiple trichoepitheliomata [RCV000315508] Chr16:50749676 [GRCh38]
Chr16:50783587 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2402A>T (p.Glu801Val) single nucleotide variant not provided [RCV003315015] Chr16:50793597 [GRCh38]
Chr16:50827508 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1746C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000348169]|Familial cylindromatosis [RCV000290921]|Familial multiple trichoepitheliomata [RCV000381603] Chr16:50798254 [GRCh38]
Chr16:50832165 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3305A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000304570]|Familial cylindromatosis [RCV000407329]|Familial multiple trichoepitheliomata [RCV000334752] Chr16:50799813 [GRCh38]
Chr16:50833724 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1587dup duplication Brooke-Spiegler syndrome [RCV000358415]|Familial cylindromatosis [RCV000305299]|Trichoepithelioma, multiple familial, 2 [RCV000390737] Chr16:50798091..50798092 [GRCh38]
Chr16:50832002..50832003 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4691A>G single nucleotide variant Brooke-Spiegler syndrome [RCV000305654]|Familial cylindromatosis [RCV000353593]|Familial multiple trichoepitheliomata [RCV000392285] Chr16:50801199 [GRCh38]
Chr16:50835110 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2975C>T single nucleotide variant Brooke-Spiegler syndrome [RCV000360845]|Familial cylindromatosis [RCV000306131]|Familial multiple trichoepitheliomata [RCV000392177] Chr16:50799483 [GRCh38]
Chr16:50833394 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1810A>T single nucleotide variant Brooke-Spiegler syndrome [RCV000342188]|Familial cylindromatosis [RCV000407296]|Familial multiple trichoepitheliomata [RCV000289522] Chr16:50798318 [GRCh38]
Chr16:50832229 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1271C>A (p.Thr424Asn) single nucleotide variant Brooke-Spiegler syndrome [RCV001120733]|Familial cylindromatosis [RCV001120735]|Familial multiple trichoepitheliomata [RCV001120734] Chr16:50779797 [GRCh38]
Chr16:50813708 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1 copy number loss See cases [RCV000511950] Chr16:46737110..51838691 [GRCh37]
Chr16:16q11.2-12.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001378743.1(CYLD):c.808-8A>G single nucleotide variant not specified [RCV000608284] Chr16:50754311 [GRCh38]
Chr16:50788222 [GRCh37]
Chr16:16q12.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001378743.1(CYLD):c.1629T>A (p.Ser543=) single nucleotide variant not provided [RCV000979155] Chr16:50781356 [GRCh38]
Chr16:50815267 [GRCh37]
Chr16:16q12.1		 likely benign
NC_000016.10:g.50741954G>C single nucleotide variant not provided [RCV001648334] Chr16:50741954 [GRCh38]
Chr16:50775865 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.923-188C>G single nucleotide variant not provided [RCV001646008] Chr16:50775991 [GRCh38]
Chr16:50809902 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1139-365G>A single nucleotide variant not provided [RCV001534050] Chr16:50779300 [GRCh38]
Chr16:50813211 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.87C>T (p.Ser29=) single nucleotide variant not provided [RCV000860966] Chr16:50749785 [GRCh38]
Chr16:50783696 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.2241+41T>A single nucleotide variant not provided [RCV001649067] Chr16:50791731 [GRCh38]
Chr16:50825642 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*1191C>G single nucleotide variant Brooke-Spiegler syndrome [RCV001117467]|Familial cylindromatosis [RCV001117466]|Familial multiple trichoepitheliomata [RCV001117468] Chr16:50797699 [GRCh38]
Chr16:50831610 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q12.1(chr16:50756881-50842077)x3 copy number gain not provided [RCV000751674] Chr16:50756881..50842077 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*139G>A single nucleotide variant Brooke-Spiegler syndrome [RCV001115902]|Familial cylindromatosis [RCV001115904]|Familial multiple trichoepitheliomata [RCV001115903]|not provided [RCV004715389] Chr16:50796647 [GRCh38]
Chr16:50830558 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*3462A>G single nucleotide variant Brooke-Spiegler syndrome [RCV001116438]|Familial cylindromatosis [RCV001116436]|Familial multiple trichoepitheliomata [RCV001116437] Chr16:50799970 [GRCh38]
Chr16:50833881 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1071C>T (p.Thr357=) single nucleotide variant not provided [RCV000923237] Chr16:50777874 [GRCh38]
Chr16:50811785 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1965T>C (p.Cys655=) single nucleotide variant not provided [RCV000906370] Chr16:50786870 [GRCh38]
Chr16:50820781 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2469+10C>T single nucleotide variant Brooke-Spiegler syndrome [RCV001118876]|Familial cylindromatosis [RCV001118874]|Familial multiple trichoepitheliomata [RCV001118875]|not provided [RCV000906426] Chr16:50793674 [GRCh38]
Chr16:50827585 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2040dup (p.Asp681fs) duplication Multiple myeloma [RCV000984131] Chr16:50786940..50786941 [GRCh38]
Chr16:50820851..50820852 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.2256G>A (p.Leu752=) single nucleotide variant not provided [RCV000996268] Chr16:50792611 [GRCh38]
Chr16:50826522 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2067G>A (p.Leu689=) single nucleotide variant not provided [RCV000861368] Chr16:50787811 [GRCh38]
Chr16:50821722 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1236C>T (p.Thr412=) single nucleotide variant not provided [RCV000981861] Chr16:50779762 [GRCh38]
Chr16:50813673 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1920G>A (p.Leu640=) single nucleotide variant not provided [RCV000909178] Chr16:50784422 [GRCh38]
Chr16:50818333 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2417C>T (p.Pro806Leu) single nucleotide variant Inborn genetic diseases [RCV002548450]|not provided [RCV000980973] Chr16:50793612 [GRCh38]
Chr16:50827523 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
NM_001378743.1(CYLD):c.66C>T (p.Tyr22=) single nucleotide variant not provided [RCV000924574] Chr16:50749764 [GRCh38]
Chr16:50783675 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.913+5G>T single nucleotide variant Brooke-Spiegler syndrome [RCV001117153]|Familial cylindromatosis [RCV001117151]|Familial multiple trichoepitheliomata [RCV001117152]|not provided [RCV005093528] Chr16:50754429 [GRCh38]
Chr16:50788340 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1294A>C (p.Ser432Arg) single nucleotide variant Brooke-Spiegler syndrome [RCV001120736]|Familial cylindromatosis [RCV001120737]|Familial multiple trichoepitheliomata [RCV001115807] Chr16:50779820 [GRCh38]
Chr16:50813731 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*5060G>T single nucleotide variant Brooke-Spiegler syndrome [RCV001118095]|Familial cylindromatosis [RCV001118096]|Familial multiple trichoepitheliomata [RCV001118097] Chr16:50801568 [GRCh38]
Chr16:50835479 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2848A>G single nucleotide variant Brooke-Spiegler syndrome [RCV001116337]|Familial cylindromatosis [RCV001116335]|Familial multiple trichoepitheliomata [RCV001116336] Chr16:50799356 [GRCh38]
Chr16:50833267 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*59T>C single nucleotide variant Brooke-Spiegler syndrome [RCV001120840]|Familial cylindromatosis [RCV001115901]|Familial multiple trichoepitheliomata [RCV001115900] Chr16:50796567 [GRCh38]
Chr16:50830478 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3151T>G single nucleotide variant Brooke-Spiegler syndrome [RCV001119348]|Familial cylindromatosis [RCV001119349]|Familial multiple trichoepitheliomata [RCV001119350] Chr16:50799659 [GRCh38]
Chr16:50833570 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3589C>T single nucleotide variant Brooke-Spiegler syndrome [RCV001117896]|Familial cylindromatosis [RCV001116439]|Familial multiple trichoepitheliomata [RCV001117895] Chr16:50800097 [GRCh38]
Chr16:50834008 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*280A>G single nucleotide variant Brooke-Spiegler syndrome [RCV001117356]|Familial cylindromatosis [RCV001117357]|Familial multiple trichoepitheliomata [RCV001117355] Chr16:50796788 [GRCh38]
Chr16:50830699 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1651G>A single nucleotide variant Brooke-Spiegler syndrome [RCV001116124]|Familial cylindromatosis [RCV001116123]|Familial multiple trichoepitheliomata [RCV001116122] Chr16:50798159 [GRCh38]
Chr16:50832070 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*29T>C single nucleotide variant Brooke-Spiegler syndrome [RCV001120839]|Familial cylindromatosis [RCV001120838]|Familial multiple trichoepitheliomata [RCV001120837] Chr16:50796537 [GRCh38]
Chr16:50830448 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1681_1682del (p.Leu561fs) deletion not provided [RCV001008133] Chr16:50781407..50781408 [GRCh38]
Chr16:50815318..50815319 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.*2113A>G single nucleotide variant Brooke-Spiegler syndrome [RCV001121152]|Familial cylindromatosis [RCV001121151]|Familial multiple trichoepitheliomata [RCV001121150] Chr16:50798621 [GRCh38]
Chr16:50832532 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4514C>G single nucleotide variant Brooke-Spiegler syndrome [RCV001119531]|Familial cylindromatosis [RCV001118002]|Familial multiple trichoepitheliomata [RCV001118001] Chr16:50801022 [GRCh38]
Chr16:50834933 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2521G>A single nucleotide variant Brooke-Spiegler syndrome [RCV001119250]|Familial cylindromatosis [RCV001119249]|Familial multiple trichoepitheliomata [RCV001119251] Chr16:50799029 [GRCh38]
Chr16:50832940 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2469+234T>C single nucleotide variant not provided [RCV001565851] Chr16:50793898 [GRCh38]
Chr16:50827809 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2469+274_2470-273dup duplication not provided [RCV001567468] Chr16:50793920..50793921 [GRCh38]
Chr16:50827831..50827832 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1518+42G>A single nucleotide variant not provided [RCV001686947] Chr16:50780086 [GRCh38]
Chr16:50813997 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.914-161A>G single nucleotide variant not provided [RCV001534098] Chr16:50775005 [GRCh38]
Chr16:50808916 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2686+201_2686+202dup duplication not provided [RCV001717202] Chr16:50794619..50794620 [GRCh38]
Chr16:50828530..50828531 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2470-273dup duplication not provided [RCV001595323] Chr16:50793920..50793921 [GRCh38]
Chr16:50827831..50827832 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1684+110C>T single nucleotide variant not provided [RCV001676601] Chr16:50781521 [GRCh38]
Chr16:50815432 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1685-115A>C single nucleotide variant not provided [RCV001614683] Chr16:50782210 [GRCh38]
Chr16:50816121 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.505-159A>G single nucleotide variant not provided [RCV001592695] Chr16:50751445 [GRCh38]
Chr16:50785356 [GRCh37]
Chr16:16q12.1		 likely benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
NM_001378743.1(CYLD):c.1209G>A (p.Gln403=) single nucleotide variant not provided [RCV000917187] Chr16:50779735 [GRCh38]
Chr16:50813646 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.891G>A (p.Leu297=) single nucleotide variant not provided [RCV000911583] Chr16:50754402 [GRCh38]
Chr16:50788313 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.807+169C>G single nucleotide variant not provided [RCV001575261] Chr16:50752075 [GRCh38]
Chr16:50785986 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2687-225T>C single nucleotide variant not provided [RCV001560809] Chr16:50796099 [GRCh38]
Chr16:50830010 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.888A>G (p.Leu296=) single nucleotide variant not provided [RCV004809489] Chr16:50754399 [GRCh38]
Chr16:50788310 [GRCh37]
Chr16:16q12.1		 likely benign
NC_000016.10:g.50741910G>T single nucleotide variant not provided [RCV001608562] Chr16:50741910 [GRCh38]
Chr16:50775821 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.807+98_807+111del microsatellite not provided [RCV001717137] Chr16:50751980..50751993 [GRCh38]
Chr16:50785891..50785904 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1138+112G>A single nucleotide variant not provided [RCV001639686] Chr16:50778053 [GRCh38]
Chr16:50811964 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1022-264T>A single nucleotide variant not provided [RCV001619601] Chr16:50777561 [GRCh38]
Chr16:50811472 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1950-82dup duplication not provided [RCV001613605] Chr16:50786761..50786762 [GRCh38]
Chr16:50820672..50820673 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2350+326G>A single nucleotide variant not provided [RCV001638300] Chr16:50793031 [GRCh38]
Chr16:50826942 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.-204+132C>T single nucleotide variant not provided [RCV001687325] Chr16:50742256 [GRCh38]
Chr16:50776167 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2589T>C (p.Ala863=) single nucleotide variant Brooke-Spiegler syndrome [RCV001118878]|Familial cylindromatosis [RCV001118877]|Familial multiple trichoepitheliomata [RCV001120836] Chr16:50794331 [GRCh38]
Chr16:50828242 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*4530G>T single nucleotide variant Brooke-Spiegler syndrome [RCV001119533]|Familial cylindromatosis [RCV001119532]|Familial multiple trichoepitheliomata [RCV001119534] Chr16:50801038 [GRCh38]
Chr16:50834949 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*3851T>C single nucleotide variant Brooke-Spiegler syndrome [RCV001121442]|Familial cylindromatosis [RCV001121444]|Familial multiple trichoepitheliomata [RCV001121443] Chr16:50800359 [GRCh38]
Chr16:50834270 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1826+60GT[9] microsatellite not provided [RCV001647914] Chr16:50782525..50782526 [GRCh38]
Chr16:50816436..50816437 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2242-46G>T single nucleotide variant not provided [RCV001714631] Chr16:50792551 [GRCh38]
Chr16:50826462 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1022-229G>A single nucleotide variant not provided [RCV001615601] Chr16:50777596 [GRCh38]
Chr16:50811507 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1519-286A>T single nucleotide variant not provided [RCV001616594] Chr16:50780960 [GRCh38]
Chr16:50814871 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2041+110G>A single nucleotide variant not provided [RCV001679466] Chr16:50787056 [GRCh38]
Chr16:50820967 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1826+283C>T single nucleotide variant not provided [RCV001693823] Chr16:50782749 [GRCh38]
Chr16:50816660 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.*3865C>T single nucleotide variant Brooke-Spiegler syndrome [RCV001116553]|Familial cylindromatosis [RCV001116552]|Familial multiple trichoepitheliomata [RCV001121445] Chr16:50800373 [GRCh38]
Chr16:50834284 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1191C>T single nucleotide variant Brooke-Spiegler syndrome [RCV001119070]|Familial cylindromatosis [RCV001117469]|Familial multiple trichoepitheliomata [RCV001119071] Chr16:50797699 [GRCh38]
Chr16:50831610 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2424C>T single nucleotide variant Brooke-Spiegler syndrome [RCV001117681]|Familial cylindromatosis [RCV001117680]|Familial multiple trichoepitheliomata [RCV001119248] Chr16:50798932 [GRCh38]
Chr16:50832843 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_015247.2(CYLD):c.-414T>C single nucleotide variant Brooke-Spiegler syndrome [RCV001118689]|Familial cylindromatosis [RCV001118690]|Familial multiple trichoepitheliomata [RCV001118691] Chr16:50742051 [GRCh38]
Chr16:50775962 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.-215C>G single nucleotide variant Brooke-Spiegler syndrome [RCV001120640]|Familial cylindromatosis [RCV001120641]|Familial multiple trichoepitheliomata [RCV001118692] Chr16:50742113 [GRCh38]
Chr16:50776024 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2026G>A single nucleotide variant Brooke-Spiegler syndrome [RCV001119160]|Familial cylindromatosis [RCV001119159]|Familial multiple trichoepitheliomata [RCV001121149] Chr16:50798534 [GRCh38]
Chr16:50832445 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*5327C>A single nucleotide variant Brooke-Spiegler syndrome [RCV001119638]|Familial cylindromatosis [RCV001119637]|Familial multiple trichoepitheliomata [RCV001119636] Chr16:50801835 [GRCh38]
Chr16:50835746 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*2147T>G single nucleotide variant Brooke-Spiegler syndrome [RCV001121155]|Familial cylindromatosis [RCV001121153]|Familial multiple trichoepitheliomata [RCV001121154] Chr16:50798655 [GRCh38]
Chr16:50832566 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*206A>C single nucleotide variant Brooke-Spiegler syndrome [RCV001115905]|Familial cylindromatosis [RCV001115906]|Familial multiple trichoepitheliomata [RCV001115907] Chr16:50796714 [GRCh38]
Chr16:50830625 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1033T>A single nucleotide variant Brooke-Spiegler syndrome [RCV001116018]|Familial cylindromatosis [RCV001116016]|Familial multiple trichoepitheliomata [RCV001116017] Chr16:50797541 [GRCh38]
Chr16:50831452 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.*1034C>A single nucleotide variant Brooke-Spiegler syndrome [RCV001117465]|Familial cylindromatosis [RCV001116019]|Familial multiple trichoepitheliomata [RCV001116020] Chr16:50797542 [GRCh38]
Chr16:50831453 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2241+5G>A single nucleotide variant Familial cylindromatosis [RCV001257399] Chr16:50791695 [GRCh38]
Chr16:50825606 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2042-50G>A single nucleotide variant not provided [RCV001549449] Chr16:50787736 [GRCh38]
Chr16:50821647 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV001281091] Chr16:50791604 [GRCh38]
Chr16:50825515 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.505-8A>G single nucleotide variant not provided [RCV001355821] Chr16:50751596 [GRCh38]
Chr16:50785507 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.-123-59A>G single nucleotide variant not provided [RCV001695386] Chr16:50749517 [GRCh38]
Chr16:50783428 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2469+26A>G single nucleotide variant Brooke-Spiegler syndrome [RCV001658372]|Familial cylindromatosis [RCV001658371]|Trichoepithelioma, multiple familial, 1 [RCV001658373]|not provided [RCV001649019] Chr16:50793690 [GRCh38]
Chr16:50827601 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1827-308A>G single nucleotide variant not provided [RCV001669672] Chr16:50784021 [GRCh38]
Chr16:50817932 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2686+202dup duplication not provided [RCV001538113] Chr16:50794619..50794620 [GRCh38]
Chr16:50828530..50828531 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1685-86A>G single nucleotide variant not provided [RCV001715136] Chr16:50782239 [GRCh38]
Chr16:50816150 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2351-240A>G single nucleotide variant not provided [RCV001647910] Chr16:50793306 [GRCh38]
Chr16:50827217 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.913+31G>A single nucleotide variant not provided [RCV001588126] Chr16:50754455 [GRCh38]
Chr16:50788366 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1139-424T>C single nucleotide variant not provided [RCV001688058] Chr16:50779241 [GRCh38]
Chr16:50813152 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2854A>T (p.Met952Leu) single nucleotide variant not provided [RCV003238016] Chr16:50796491 [GRCh38]
Chr16:50830402 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1356A>G (p.Ala452=) single nucleotide variant CYLD-related disorder [RCV003941136]|not provided [RCV001799980] Chr16:50779882 [GRCh38]
Chr16:50813793 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1853A>T (p.Asp618Val) single nucleotide variant not provided [RCV001757360] Chr16:50784355 [GRCh38]
Chr16:50818266 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.454_455del (p.Leu152fs) deletion not provided [RCV001780905] Chr16:50750152..50750153 [GRCh38]
Chr16:50784063..50784064 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.170A>G (p.His57Arg) single nucleotide variant Brooke-Spiegler syndrome [RCV001788976]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004571099] Chr16:50749868 [GRCh38]
Chr16:50783779 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2295A>G (p.Leu765=) single nucleotide variant not provided [RCV004809333] Chr16:50792650 [GRCh38]
Chr16:50826561 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2686+1G>A single nucleotide variant not provided [RCV001844438] Chr16:50794429 [GRCh38]
Chr16:50828340 [GRCh37]
Chr16:16q12.1		 not provided
NM_001378743.1(CYLD):c.1684+2T>C single nucleotide variant not provided [RCV002211353] Chr16:50781413 [GRCh38]
Chr16:50815324 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys) single nucleotide variant not specified [RCV002248027] Chr16:50751613 [GRCh38]
Chr16:50785524 [GRCh37]
Chr16:16q12.1		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001378743.1(CYLD):c.932C>T (p.Thr311Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004572844]|Inborn genetic diseases [RCV004614395]|not provided [RCV003110080] Chr16:50776188 [GRCh38]
Chr16:50810099 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.176G>A (p.Arg59Lys) single nucleotide variant not provided [RCV003110105] Chr16:50749874 [GRCh38]
Chr16:50783785 [GRCh37]
Chr16:16q12.1		 uncertain significance
NC_000016.9:g.(?_49525186)_(51631253_?)del deletion Nephronophthisis 14 [RCV003119486]|Townes syndrome [RCV004579603] Chr16:49525186..51631253 [GRCh37]
Chr16:16q12.1		 pathogenic|uncertain significance
NM_001378743.1(CYLD):c.635T>C (p.Leu212Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003466015]|not provided [RCV003120442] Chr16:50751734 [GRCh38]
Chr16:50785645 [GRCh37]
Chr16:16q12.1		 uncertain significance
NC_000016.9:g.(?_49525186)_(51631253_?)dup duplication Nephronophthisis 14 [RCV003119487] Chr16:49525186..51631253 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1 copy number loss Syndromic anorectal malformation [RCV002286604] Chr16:50093691..51651454 [GRCh37]
Chr16:16q12.1		 association
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_001378743.1(CYLD):c.2723dup (p.Cys909fs) duplication Brooke-Spiegler syndrome [RCV002466819] Chr16:50796356..50796357 [GRCh38]
Chr16:50830267..50830268 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.2616del (p.His871_Tyr872insTer) deletion Brooke-Spiegler syndrome [RCV002462824] Chr16:50794358 [GRCh38]
Chr16:50828269 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.1357C>A (p.Pro453Thr) single nucleotide variant Inborn genetic diseases [RCV002816951] Chr16:50779883 [GRCh38]
Chr16:50813794 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2108+51T>C single nucleotide variant not provided [RCV002461609] Chr16:50787903 [GRCh38]
Chr16:50821814 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.946C>T (p.Pro316Ser) single nucleotide variant Inborn genetic diseases [RCV002798294] Chr16:50776202 [GRCh38]
Chr16:50810113 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.589G>C (p.Val197Leu) single nucleotide variant Inborn genetic diseases [RCV002897986] Chr16:50751688 [GRCh38]
Chr16:50785599 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1004A>G (p.Asn335Ser) single nucleotide variant Ovarian cancer [RCV003154695] Chr16:50776260 [GRCh38]
Chr16:50810171 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.1189C>A (p.Arg397Ser) single nucleotide variant Ovarian cancer [RCV003154720] Chr16:50779715 [GRCh38]
Chr16:50813626 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.2516C>T (p.Ser839Leu) single nucleotide variant Inborn genetic diseases [RCV003210965] Chr16:50794258 [GRCh38]
Chr16:50828169 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1142C>T (p.Ala381Val) single nucleotide variant not provided [RCV003145970] Chr16:50779668 [GRCh38]
Chr16:50813579 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2646T>A (p.Asp882Glu) single nucleotide variant Inborn genetic diseases [RCV003384659] Chr16:50794388 [GRCh38]
Chr16:50828299 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.55C>T (p.Arg19Trp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468572] Chr16:50749753 [GRCh38]
Chr16:50783664 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1827-3C>A single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468574] Chr16:50784326 [GRCh38]
Chr16:50818237 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1141G>T (p.Ala381Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468576] Chr16:50779667 [GRCh38]
Chr16:50813578 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.125C>T (p.Pro42Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468578] Chr16:50749823 [GRCh38]
Chr16:50783734 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1016C>T (p.Ala339Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468579] Chr16:50776272 [GRCh38]
Chr16:50810183 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.241G>T (p.Val81Phe) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468589] Chr16:50749939 [GRCh38]
Chr16:50783850 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.467G>A (p.Arg156Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468593] Chr16:50750165 [GRCh38]
Chr16:50784076 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2172A>C (p.Lys724Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468596] Chr16:50791621 [GRCh38]
Chr16:50825532 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.285G>C (p.Lys95Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468597] Chr16:50749983 [GRCh38]
Chr16:50783894 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.841G>A (p.Asp281Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468598] Chr16:50754352 [GRCh38]
Chr16:50788263 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.274A>G (p.Ile92Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468602] Chr16:50749972 [GRCh38]
Chr16:50783883 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.208A>G (p.Ile70Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468604]|not provided [RCV003779171] Chr16:50749906 [GRCh38]
Chr16:50783817 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1151C>T (p.Pro384Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468608] Chr16:50779677 [GRCh38]
Chr16:50813588 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1008A>C (p.Lys336Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468610] Chr16:50776264 [GRCh38]
Chr16:50810175 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.694A>G (p.Ile232Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468611] Chr16:50751793 [GRCh38]
Chr16:50785704 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2844G>T (p.Gln948His) single nucleotide variant Inborn genetic diseases [RCV003374174] Chr16:50796481 [GRCh38]
Chr16:50830392 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2578G>C (p.Glu860Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468582] Chr16:50794320 [GRCh38]
Chr16:50828231 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2650G>T (p.Ala884Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468583] Chr16:50794392 [GRCh38]
Chr16:50828303 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.649G>A (p.Ala217Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468599] Chr16:50751748 [GRCh38]
Chr16:50785659 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1289A>G (p.Asn430Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468600] Chr16:50779815 [GRCh38]
Chr16:50813726 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.421A>C (p.Lys141Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468603] Chr16:50750119 [GRCh38]
Chr16:50784030 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1763T>C (p.Ile588Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468584]|not provided [RCV005062972] Chr16:50782403 [GRCh38]
Chr16:50816314 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1190G>A (p.Arg397His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468605] Chr16:50779716 [GRCh38]
Chr16:50813627 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.611T>C (p.Leu204Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468607] Chr16:50751710 [GRCh38]
Chr16:50785621 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1111del (p.Ser371fs) deletion Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468614]|not provided [RCV005100264] Chr16:50777914 [GRCh38]
Chr16:50811825 [GRCh37]
Chr16:16q12.1		 pathogenic|likely pathogenic
NM_001378743.1(CYLD):c.2263C>T (p.Gln755Ter) single nucleotide variant CYLD-related disorder [RCV003408406] Chr16:50792618 [GRCh38]
Chr16:50826529 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.439C>T (p.Arg147Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468575] Chr16:50750137 [GRCh38]
Chr16:50784048 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2644G>A (p.Asp882Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468588] Chr16:50794386 [GRCh38]
Chr16:50828297 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1249C>T (p.His417Tyr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468595] Chr16:50779775 [GRCh38]
Chr16:50813686 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.680T>C (p.Leu227Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468613] Chr16:50751779 [GRCh38]
Chr16:50785690 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1365A>G (p.Gln455=) single nucleotide variant not provided [RCV003426702] Chr16:50779891 [GRCh38]
Chr16:50813802 [GRCh37]
Chr16:16q12.1		 benign
NM_001378743.1(CYLD):c.534C>T (p.Asp178=) single nucleotide variant not provided [RCV003419321] Chr16:50751633 [GRCh38]
Chr16:50785544 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1110A>G (p.Lys370=) single nucleotide variant not provided [RCV003419323] Chr16:50777913 [GRCh38]
Chr16:50811824 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2646T>C (p.Asp882=) single nucleotide variant not provided [RCV003419326] Chr16:50794388 [GRCh38]
Chr16:50828299 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2814G>A (p.Leu938=) single nucleotide variant CYLD-related disorder [RCV003929071]|not provided [RCV003419327] Chr16:50796451 [GRCh38]
Chr16:50830362 [GRCh37]
Chr16:16q12.1		 benign|likely benign
NM_001378743.1(CYLD):c.899A>G (p.Asn300Ser) single nucleotide variant CYLD-related disorder [RCV003403038] Chr16:50754410 [GRCh38]
Chr16:50788321 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.685C>T (p.Pro229Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468592] Chr16:50751784 [GRCh38]
Chr16:50785695 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.956T>G (p.Leu319Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468612] Chr16:50776212 [GRCh38]
Chr16:50810123 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2418G>A (p.Pro806=) single nucleotide variant not provided [RCV003419324] Chr16:50793613 [GRCh38]
Chr16:50827524 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2476C>T (p.Leu826Phe) single nucleotide variant CYLD-related disorder [RCV003954146]|not provided [RCV003419325] Chr16:50794218 [GRCh38]
Chr16:50828129 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1710A>T (p.Val570=) single nucleotide variant not provided [RCV003411348] Chr16:50782350 [GRCh38]
Chr16:50816261 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.777A>G (p.Glu259=) single nucleotide variant not provided [RCV003419322] Chr16:50751876 [GRCh38]
Chr16:50785787 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1276A>T (p.Met426Leu) single nucleotide variant CYLD-related disorder [RCV003420731] Chr16:50779802 [GRCh38]
Chr16:50813713 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2462A>G (p.Asn821Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468573] Chr16:50793657 [GRCh38]
Chr16:50827568 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.157C>T (p.Arg53Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468577] Chr16:50749855 [GRCh38]
Chr16:50783766 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.727A>G (p.Thr243Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468580] Chr16:50751826 [GRCh38]
Chr16:50785737 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.608A>C (p.Glu203Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468585] Chr16:50751707 [GRCh38]
Chr16:50785618 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2434A>G (p.Lys812Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468586] Chr16:50793629 [GRCh38]
Chr16:50827540 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1331C>G (p.Ser444Cys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468587] Chr16:50779857 [GRCh38]
Chr16:50813768 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1433T>C (p.Val478Ala) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468590] Chr16:50779959 [GRCh38]
Chr16:50813870 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.640A>G (p.Ser214Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468591] Chr16:50751739 [GRCh38]
Chr16:50785650 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1078G>C (p.Gly360Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468594] Chr16:50777881 [GRCh38]
Chr16:50811792 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1402C>T (p.His468Tyr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468601] Chr16:50779928 [GRCh38]
Chr16:50813839 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.761T>G (p.Val254Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468606] Chr16:50751860 [GRCh38]
Chr16:50785771 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.70C>T (p.Leu24Phe) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV003468609] Chr16:50749768 [GRCh38]
Chr16:50783679 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2385A>C (p.Ala795=) single nucleotide variant not provided [RCV003715258] Chr16:50793580 [GRCh38]
Chr16:50827491 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.24A>C (p.Gln8His) single nucleotide variant not provided [RCV003572974] Chr16:50749722 [GRCh38]
Chr16:50783633 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.158G>A (p.Arg53His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004573255]|not provided [RCV003717307] Chr16:50749856 [GRCh38]
Chr16:50783767 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2390A>T (p.Tyr797Phe) single nucleotide variant not specified [RCV003995155] Chr16:50793585 [GRCh38]
Chr16:50827496 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2109-11C>T single nucleotide variant not provided [RCV003816617] Chr16:50791547 [GRCh38]
Chr16:50825458 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.924G>T (p.Glu308Asp) single nucleotide variant not provided [RCV003554252] Chr16:50776180 [GRCh38]
Chr16:50810091 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2039A>G (p.Lys680Arg) single nucleotide variant Familial cylindromatosis [RCV003994641] Chr16:50786944 [GRCh38]
Chr16:50820855 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.241G>A (p.Val81Ile) single nucleotide variant Inborn genetic diseases [RCV004367743] Chr16:50749939 [GRCh38]
Chr16:50783850 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.40C>T (p.Pro14Ser) single nucleotide variant Inborn genetic diseases [RCV004367744] Chr16:50749738 [GRCh38]
Chr16:50783649 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.890_892delinsGT (p.Leu297fs) indel not provided [RCV003993495] Chr16:50754401..50754403 [GRCh38]
Chr16:50788312..50788314 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.582C>T (p.Gly194=) single nucleotide variant not provided [RCV004546109] Chr16:50751681 [GRCh38]
Chr16:50785592 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.204T>G (p.Asn68Lys) single nucleotide variant Inborn genetic diseases [RCV004367742] Chr16:50749902 [GRCh38]
Chr16:50783813 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1139-3dup duplication CYLD-related disorder [RCV003893776] Chr16:50779656..50779657 [GRCh38]
Chr16:50813567..50813568 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2475C>T (p.His825=) single nucleotide variant CYLD-related disorder [RCV003904107] Chr16:50794217 [GRCh38]
Chr16:50828128 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2553C>T (p.His851=) single nucleotide variant CYLD-related disorder [RCV003937284] Chr16:50794295 [GRCh38]
Chr16:50828206 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2282_2283del (p.Lys761fs) deletion CYLD-related disorder [RCV003922067] Chr16:50792635..50792636 [GRCh38]
Chr16:50826546..50826547 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.867G>A (p.Ala289=) single nucleotide variant CYLD-related disorder [RCV003922101] Chr16:50754378 [GRCh38]
Chr16:50788289 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1985T>C (p.Leu662Pro) single nucleotide variant CYLD-related disorder [RCV003894408] Chr16:50786890 [GRCh38]
Chr16:50820801 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2340A>G (p.Leu780=) single nucleotide variant CYLD-related disorder [RCV003913996] Chr16:50792695 [GRCh38]
Chr16:50826606 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.2148A>G (p.Gln716=) single nucleotide variant not provided [RCV003886031] Chr16:50791597 [GRCh38]
Chr16:50825508 [GRCh37]
Chr16:16q12.1		 likely benign
NC_000016.9:g.(?_50731155)_(51631253_?)dup duplication Blau syndrome [RCV004581634] Chr16:50731155..51631253 [GRCh37]
Chr16:16q12.1		 uncertain significance
NC_000016.9:g.(?_50820746)_(50821783_?)del deletion not provided [RCV004582879] Chr16:50820746..50821783 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2242G>A (p.Ala748Thr) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575716] Chr16:50792597 [GRCh38]
Chr16:50826508 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1882A>G (p.Asn628Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575717] Chr16:50784384 [GRCh38]
Chr16:50818295 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1087G>C (p.Val363Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575718] Chr16:50777890 [GRCh38]
Chr16:50811801 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1435A>G (p.Lys479Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575719] Chr16:50779961 [GRCh38]
Chr16:50813872 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.522A>C (p.Gln174His) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575720] Chr16:50751621 [GRCh38]
Chr16:50785532 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1208A>C (p.Gln403Pro) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575721] Chr16:50779734 [GRCh38]
Chr16:50813645 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.284A>G (p.Lys95Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575722] Chr16:50749982 [GRCh38]
Chr16:50783893 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2538C>A (p.Asp846Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575723] Chr16:50794280 [GRCh38]
Chr16:50828191 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.305C>T (p.Ala102Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575724] Chr16:50750003 [GRCh38]
Chr16:50783914 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.335T>A (p.Leu112Gln) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575725] Chr16:50750033 [GRCh38]
Chr16:50783944 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2119C>A (p.Gln707Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575726] Chr16:50791568 [GRCh38]
Chr16:50825479 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.190A>G (p.Lys64Glu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575727] Chr16:50749888 [GRCh38]
Chr16:50783799 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1724C>T (p.Thr575Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575733] Chr16:50782364 [GRCh38]
Chr16:50816275 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2678A>G (p.Asp893Gly) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575734] Chr16:50794420 [GRCh38]
Chr16:50828331 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2426C>T (p.Ser809Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575735] Chr16:50793621 [GRCh38]
Chr16:50827532 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2495A>G (p.Asn832Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575736] Chr16:50794237 [GRCh38]
Chr16:50828148 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1121C>T (p.Thr374Ile) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575737] Chr16:50777924 [GRCh38]
Chr16:50811835 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.98A>G (p.Lys33Arg) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575738] Chr16:50749796 [GRCh38]
Chr16:50783707 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1949T>A (p.Ile650Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575739] Chr16:50784451 [GRCh38]
Chr16:50818362 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.895A>G (p.Ile299Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575740] Chr16:50754406 [GRCh38]
Chr16:50788317 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2512G>A (p.Val838Met) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575741] Chr16:50794254 [GRCh38]
Chr16:50828165 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2482C>T (p.Pro828Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575742] Chr16:50794224 [GRCh38]
Chr16:50828135 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.676G>A (p.Glu226Lys) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575743] Chr16:50751775 [GRCh38]
Chr16:50785686 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.730A>G (p.Ile244Val) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575744] Chr16:50751829 [GRCh38]
Chr16:50785740 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.228G>C (p.Glu76Asp) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575745] Chr16:50749926 [GRCh38]
Chr16:50783837 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.595T>C (p.Leu199=) single nucleotide variant not provided [RCV004585873] Chr16:50751694 [GRCh38]
Chr16:50785605 [GRCh37]
Chr16:16q12.1		 likely benign
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_001378743.1(CYLD):c.2410G>A (p.Asp804Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575728] Chr16:50793605 [GRCh38]
Chr16:50827516 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2512G>C (p.Val838Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575729] Chr16:50794254 [GRCh38]
Chr16:50828165 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2554G>A (p.Gly852Ser) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575730] Chr16:50794296 [GRCh38]
Chr16:50828207 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2570A>T (p.Gln857Leu) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575731] Chr16:50794312 [GRCh38]
Chr16:50828223 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.829G>A (p.Asp277Asn) single nucleotide variant Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 [RCV004575732] Chr16:50754340 [GRCh38]
Chr16:50788251 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.725A>G (p.Glu242Gly) single nucleotide variant CYLD-related disorder [RCV004749250] Chr16:50751824 [GRCh38]
Chr16:50785735 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2390A>G (p.Tyr797Cys) single nucleotide variant CYLD-related disorder [RCV004748143] Chr16:50793585 [GRCh38]
Chr16:50827496 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1949+5G>A single nucleotide variant not provided [RCV004774169] Chr16:50784456 [GRCh38]
Chr16:50818367 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2273G>A (p.Arg758Gln) single nucleotide variant not provided [RCV004770870] Chr16:50792628 [GRCh38]
Chr16:50826539 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.378C>T (p.Asp126=) single nucleotide variant CYLD-related disorder [RCV004748346] Chr16:50750076 [GRCh38]
Chr16:50783987 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.403C>T (p.Leu135=) single nucleotide variant CYLD-related disorder [RCV004750007] Chr16:50750101 [GRCh38]
Chr16:50784012 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.254A>T (p.Asp85Val) single nucleotide variant not provided [RCV004763893]   uncertain significance
NM_001378743.1(CYLD):c.1538G>C (p.Cys513Ser) single nucleotide variant Inborn genetic diseases [RCV004981422] Chr16:50781265 [GRCh38]
Chr16:50815176 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.382G>A (p.Gly128Ser) single nucleotide variant Inborn genetic diseases [RCV004981421] Chr16:50750080 [GRCh38]
Chr16:50783991 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.100C>A (p.Gln34Lys) single nucleotide variant Brooke-Spiegler syndrome [RCV005015522] Chr16:50749798 [GRCh38]
Chr16:50783709 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.244C>T (p.Leu82Phe) single nucleotide variant Brooke-Spiegler syndrome [RCV005015523] Chr16:50749942 [GRCh38]
Chr16:50783853 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1027A>G (p.Thr343Ala) single nucleotide variant Brooke-Spiegler syndrome [RCV005015524] Chr16:50777830 [GRCh38]
Chr16:50811741 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2042-21_2042-18del deletion not provided [RCV005084900] Chr16:50787763..50787766 [GRCh38]
Chr16:50821674..50821677 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1684+11G>C single nucleotide variant not provided [RCV005060303] Chr16:50781422 [GRCh38]
Chr16:50815333 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001378743.1(CYLD):c.1840_1843del (p.Ser614fs) deletion not provided [RCV005128826] Chr16:50784340..50784343 [GRCh38]
Chr16:50818251..50818254 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1358C>G (p.Pro453Arg) single nucleotide variant not provided [RCV005082206] Chr16:50779884 [GRCh38]
Chr16:50813795 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1950-2A>T single nucleotide variant not provided [RCV005198500] Chr16:50786853 [GRCh38]
Chr16:50820764 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.2288_2289del (p.Asp762_Phe763insTer) deletion not provided [RCV005198502] Chr16:50792642..50792643 [GRCh38]
Chr16:50826553..50826554 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2516C>G (p.Ser839Ter) single nucleotide variant not provided [RCV005131961] Chr16:50794258 [GRCh38]
Chr16:50828169 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1126dup (p.Tyr376fs) duplication not provided [RCV005134845] Chr16:50777928..50777929 [GRCh38]
Chr16:50811839..50811840 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2119C>T (p.Gln707Ter) single nucleotide variant not provided [RCV005198501] Chr16:50791568 [GRCh38]
Chr16:50825479 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.2215_2241+289del deletion not provided [RCV005118735] Chr16:50791660..50791975 [GRCh38]
Chr16:50825571..50825886 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1519-9_1519-6del deletion not provided [RCV005130315] Chr16:50781234..50781237 [GRCh38]
Chr16:50815145..50815148 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2498A>G (p.His833Arg) single nucleotide variant not provided [RCV005143384] Chr16:50794240 [GRCh38]
Chr16:50828151 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2713C>T (p.Gln905Ter) single nucleotide variant not provided [RCV005198503] Chr16:50796350 [GRCh38]
Chr16:50830261 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1760T>C (p.Met587Thr) single nucleotide variant not provided [RCV005131978] Chr16:50782400 [GRCh38]
Chr16:50816311 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.2350+4A>G single nucleotide variant not provided [RCV005142862] Chr16:50792709 [GRCh38]
Chr16:50826620 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1094C>A (p.Ser365Ter) single nucleotide variant not provided [RCV005131895] Chr16:50777897 [GRCh38]
Chr16:50811808 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.1930del (p.Ile644fs) deletion not provided [RCV005139161] Chr16:50784430 [GRCh38]
Chr16:50818341 [GRCh37]
Chr16:16q12.1		 pathogenic
NM_001378743.1(CYLD):c.808-2A>C single nucleotide variant not provided [RCV005203596] Chr16:50754317 [GRCh38]
Chr16:50788228 [GRCh37]
Chr16:16q12.1		 likely pathogenic
NM_001378743.1(CYLD):c.1018A>G (p.Thr340Ala) single nucleotide variant not provided [RCV005071731] Chr16:50776274 [GRCh38]
Chr16:50810185 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1919T>C (p.Leu640Pro) single nucleotide variant not provided [RCV005176154] Chr16:50784421 [GRCh38]
Chr16:50818332 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001378743.1(CYLD):c.1684+1G>A single nucleotide variant not provided [RCV005198499] Chr16:50781412 [GRCh38]
Chr16:50815323 [GRCh37]
Chr16:16q12.1		 likely pathogenic
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR19Ahsa-miR-19a-3pOncomiRDBexternal_infoNANA22362744
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI20797623
MIR181B2hsa-miR-181b-5pOncomiRDBexternal_infoNANA20797623
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI20797623
MIR181B1hsa-miR-181b-5pOncomiRDBexternal_infoNANA20797623
MIR182hsa-miR-182-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI23006329
MIR182hsa-miR-182-5pOncomiRDBexternal_infoNANA23006329

Predicted Target Of
Summary Value
Count of predictions:6707
Count of miRNA genes:1262
Interacting mature miRNAs:1631
Transcripts:ENST00000311559, ENST00000398568, ENST00000427738, ENST00000540145, ENST00000562884, ENST00000563629, ENST00000563976, ENST00000564326, ENST00000564634, ENST00000566024, ENST00000566206, ENST00000566679, ENST00000568704, ENST00000568744, ENST00000569418, ENST00000569681, ENST00000569891
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597091744GWAS1187818_Hleprosy QTL GWAS1187818 (human)0.000005leprosy165074789150747892Human
597053449GWAS1149523_Hasthma QTL GWAS1149523 (human)2e-09asthma165075624750756248Human

Markers in Region
D16S503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371663,598,803 - 63,599,029UniSTSGRCh37
Build 361662,156,304 - 62,156,530RGDNCBI36
Celera1648,102,119 - 48,102,351RGD
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map16q21UniSTS
HuRef1649,467,627 - 49,467,828UniSTS
Marshfield Genetic Map1683.55RGD
Marshfield Genetic Map1683.55UniSTS
Genethon Genetic Map1681.8UniSTS
GeneMap99-GB4 RH Map16384.01UniSTS
Whitehead-RH Map16283.8UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16486.1UniSTS
D16S514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371662,338,076 - 62,338,196UniSTSGRCh37
GRCh371662,338,056 - 62,338,203UniSTSGRCh37
Build 361660,895,557 - 60,895,704RGDNCBI36
Celera1646,841,923 - 46,842,076RGD
Celera1646,841,943 - 46,842,069UniSTS
HuRef1648,207,159 - 48,207,306UniSTS
HuRef1648,207,179 - 48,207,299UniSTS
Marshfield Genetic Map1681.15RGD
Marshfield Genetic Map1681.15UniSTS
Genethon Genetic Map1680.0UniSTS
TNG Radiation Hybrid Map1626463.0UniSTS
Stanford-G3 RH Map162258.0UniSTS
GeneMap99-GB4 RH Map16381.58UniSTS
Whitehead-RH Map16283.9UniSTS
Whitehead-YAC Contig Map16 UniSTS
NCBI RH Map16486.1UniSTS
GeneMap99-G3 RH Map162702.0UniSTS
RH64884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,830,564 - 50,830,752UniSTSGRCh37
Build 361649,388,065 - 49,388,253RGDNCBI36
Celera1635,345,882 - 35,346,070RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,717,993 - 36,718,181UniSTS
RH94254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,831,436 - 50,831,577UniSTSGRCh37
Build 361649,388,937 - 49,389,078RGDNCBI36
Celera1635,346,754 - 35,346,895RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,718,865 - 36,719,006UniSTS
GeneMap99-GB4 RH Map16343.8UniSTS
RH92056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,817,843 - 50,818,011UniSTSGRCh37
Build 361649,375,344 - 49,375,512RGDNCBI36
Celera1635,333,161 - 35,333,329RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,705,271 - 36,705,439UniSTS
GeneMap99-GB4 RH Map16344.72UniSTS
SHGC-78760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,815,760 - 50,816,052UniSTSGRCh37
Build 361649,373,261 - 49,373,553RGDNCBI36
Celera1635,331,078 - 35,331,370RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,703,188 - 36,703,480UniSTS
TNG Radiation Hybrid Map1620214.0UniSTS
D16S2680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,801,919 - 50,802,022UniSTSGRCh37
Build 361649,359,420 - 49,359,523RGDNCBI36
Celera1635,317,237 - 35,317,340RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,689,347 - 36,689,450UniSTS
G67954  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,827,421 - 50,827,725UniSTSGRCh37
Build 361649,384,922 - 49,385,226RGDNCBI36
Celera1635,342,739 - 35,343,043RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,714,849 - 36,715,153UniSTS
G67953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,798,813 - 50,798,997UniSTSGRCh37
Build 361649,356,314 - 49,356,498RGDNCBI36
Celera1635,314,130 - 35,314,314RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,686,239 - 36,686,423UniSTS
CYLD__4662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,831,876 - 50,832,576UniSTSGRCh37
Build 361649,389,377 - 49,390,077RGDNCBI36
Celera1635,347,194 - 35,347,894RGD
HuRef1636,719,305 - 36,720,005UniSTS
D16S308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,471,336 - 50,471,485UniSTSGRCh37
Build 361649,028,837 - 49,028,986RGDNCBI36
Cytogenetic Map16q12.1UniSTS
HuRef1636,359,258 - 36,359,413UniSTS
SGC32374  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,835,698 - 50,835,801UniSTSGRCh37
Build 361649,393,199 - 49,393,302RGDNCBI36
Celera1635,351,016 - 35,351,119RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,723,127 - 36,723,230UniSTS
GeneMap99-GB4 RH Map16344.83UniSTS
Whitehead-RH Map16237.5UniSTS
NCBI RH Map16363.7UniSTS
RH48312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,832,977 - 50,833,145UniSTSGRCh37
Build 361649,390,478 - 49,390,646RGDNCBI36
Celera1635,348,295 - 35,348,463RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,720,406 - 36,720,574UniSTS
GeneMap99-GB4 RH Map16344.72UniSTS
NCBI RH Map16362.6UniSTS
SHGC-60837  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,830,476 - 50,830,765UniSTSGRCh37
Build 361649,387,977 - 49,388,266RGDNCBI36
Celera1635,345,794 - 35,346,083RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,717,905 - 36,718,194UniSTS
GeneMap99-GB4 RH Map16374.6UniSTS
Whitehead-RH Map16257.4UniSTS
NCBI RH Map16358.1UniSTS
D13S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6p25.1UniSTS
D16S514  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q21UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16q12.1UniSTS
TNG Radiation Hybrid Map1626463.0UniSTS
Stanford-G3 RH Map162258.0UniSTS
GeneMap99-GB4 RH Map16381.58UniSTS
NCBI RH Map16486.1UniSTS
GeneMap99-G3 RH Map162702.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4973 1726 2351 5 624 1951 465 2269 7303 6470 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_166071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008489063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_933218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ250014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX642061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA157717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA785459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA940312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB119480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN823255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN823256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN823257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000311559   ⟹   ENSP00000308928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,074 - 50,798,617 (+)Ensembl
Ensembl Acc Id: ENST00000398568   ⟹   ENSP00000381574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,120 - 50,796,882 (+)Ensembl
Ensembl Acc Id: ENST00000427738   ⟹   ENSP00000392025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,086 - 50,801,935 (+)Ensembl
Ensembl Acc Id: ENST00000562884   ⟹   ENSP00000463197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,793,617 - 50,794,888 (+)Ensembl
Ensembl Acc Id: ENST00000563629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,749,963 - 50,787,746 (+)Ensembl
Ensembl Acc Id: ENST00000563976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,776,201 - 50,778,294 (+)Ensembl
Ensembl Acc Id: ENST00000564326   ⟹   ENSP00000454515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,081 - 50,796,711 (+)Ensembl
Ensembl Acc Id: ENST00000564634   ⟹   ENSP00000455535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,118 - 50,749,798 (+)Ensembl
Ensembl Acc Id: ENST00000566024   ⟹   ENSP00000458507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,794,294 - 50,801,933 (+)Ensembl
Ensembl Acc Id: ENST00000566206   ⟹   ENSP00000462134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,086 - 50,795,724 (+)Ensembl
Ensembl Acc Id: ENST00000566679   ⟹   ENSP00000456912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,110 - 50,754,424 (+)Ensembl
Ensembl Acc Id: ENST00000568704   ⟹   ENSP00000456488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,749,549 - 50,797,334 (+)Ensembl
Ensembl Acc Id: ENST00000568744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,800,679 - 50,801,930 (+)Ensembl
Ensembl Acc Id: ENST00000569418   ⟹   ENSP00000457576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,050 - 50,796,881 (+)Ensembl
Ensembl Acc Id: ENST00000569681   ⟹   ENSP00000457108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,050 - 50,750,197 (+)Ensembl
Ensembl Acc Id: ENST00000569891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,742,070 - 50,786,781 (+)Ensembl
RefSeq Acc Id: NM_001042355   ⟹   NP_001035814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
GRCh371650,775,961 - 50,835,847 (+)NCBI
Build 361649,333,462 - 49,393,347 (+)NCBI Archive
HuRef1636,663,187 - 36,723,275 (+)ENTREZGENE
CHM1_11652,183,487 - 52,243,322 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042412   ⟹   NP_001035877
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
GRCh371650,775,961 - 50,835,847 (+)NCBI
Build 361649,333,530 - 49,393,347 (+)NCBI Archive
HuRef1636,663,187 - 36,723,275 (+)ENTREZGENE
CHM1_11652,183,555 - 52,243,322 (+)NCBI
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378743   ⟹   NP_001365672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378744   ⟹   NP_001365673
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378745   ⟹   NP_001365674
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378746   ⟹   NP_001365675
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378747   ⟹   NP_001365676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378748   ⟹   NP_001365677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,415 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,540,056 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378749   ⟹   NP_001365678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378750   ⟹   NP_001365679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,415 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,540,056 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378751   ⟹   NP_001365680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378752   ⟹   NP_001365681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378753   ⟹   NP_001365682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378754   ⟹   NP_001365683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001378755   ⟹   NP_001365684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,415 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,540,056 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015247   ⟹   NP_056062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
GRCh371650,775,961 - 50,835,847 (+)NCBI
Build 361649,333,462 - 49,393,347 (+)NCBI Archive
HuRef1636,663,187 - 36,723,275 (+)ENTREZGENE
CHM1_11652,183,487 - 52,243,322 (+)NCBI
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: NR_166071
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433656   ⟹   XP_047289612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433658   ⟹   XP_047289614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433659   ⟹   XP_047289615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433660   ⟹   XP_047289616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,415 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433661   ⟹   XP_047289617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433662   ⟹   XP_047289618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,156 - 50,801,935 (+)NCBI
RefSeq Acc Id: XM_047433663   ⟹   XP_047289619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,786,946 (+)NCBI
RefSeq Acc Id: XM_047433664   ⟹   XP_047289620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,782,376 (+)NCBI
RefSeq Acc Id: XM_054379694   ⟹   XP_054235669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379695   ⟹   XP_054235670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379696   ⟹   XP_054235671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379697   ⟹   XP_054235672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,540,056 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379698   ⟹   XP_054235673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379699   ⟹   XP_054235674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,797 - 56,599,616 (+)NCBI
RefSeq Acc Id: XM_054379700   ⟹   XP_054235675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,727 - 56,584,623 (+)NCBI
RefSeq Acc Id: XM_054379701   ⟹   XP_054235676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,727 - 56,580,053 (+)NCBI
RefSeq Acc Id: XR_007064858
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,801,935 (+)NCBI
RefSeq Acc Id: XR_008489063
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,539,727 - 56,599,616 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001035814 (Get FASTA)   NCBI Sequence Viewer  
  NP_001035877 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365672 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365673 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365674 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365675 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365679 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365680 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365681 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365683 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365684 (Get FASTA)   NCBI Sequence Viewer  
  NP_056062 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289612 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289614 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289615 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289616 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289617 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289618 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289619 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235669 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235670 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235671 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235672 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235673 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235675 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235676 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF29029 (Get FASTA)   NCBI Sequence Viewer  
  AAH12342 (Get FASTA)   NCBI Sequence Viewer  
  BAF85664 (Get FASTA)   NCBI Sequence Viewer  
  BAG51271 (Get FASTA)   NCBI Sequence Viewer  
  BAG51293 (Get FASTA)   NCBI Sequence Viewer  
  CAB93533 (Get FASTA)   NCBI Sequence Viewer  
  CAH05327 (Get FASTA)   NCBI Sequence Viewer  
  CBL94217 (Get FASTA)   NCBI Sequence Viewer  
  CBL94218 (Get FASTA)   NCBI Sequence Viewer  
  CBL94219 (Get FASTA)   NCBI Sequence Viewer  
  CBL94220 (Get FASTA)   NCBI Sequence Viewer  
  EAW82768 (Get FASTA)   NCBI Sequence Viewer  
  EAW82769 (Get FASTA)   NCBI Sequence Viewer  
  EAW82770 (Get FASTA)   NCBI Sequence Viewer  
  EAW82771 (Get FASTA)   NCBI Sequence Viewer  
  EAW82772 (Get FASTA)   NCBI Sequence Viewer  
  EAW82773 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000308928
  ENSP00000308928.9
  ENSP00000381574
  ENSP00000381574.2
  ENSP00000392025
  ENSP00000392025.3
  ENSP00000454515
  ENSP00000454515.1
  ENSP00000455535.1
  ENSP00000456488
  ENSP00000456488.2
  ENSP00000456912.2
  ENSP00000457576
  ENSP00000457576.1
  ENSP00000458507.1
  ENSP00000462134.1
  ENSP00000463197.1
GenBank Protein Q9NQC7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056062   ⟸   NM_015247
- Peptide Label: isoform 1
- UniProtKB: Q96EH0 (UniProtKB/Swiss-Prot),   Q7L3N6 (UniProtKB/Swiss-Prot),   O94934 (UniProtKB/Swiss-Prot),   Q9NZX9 (UniProtKB/Swiss-Prot),   Q9NQC7 (UniProtKB/Swiss-Prot),   A8KAB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035814   ⟸   NM_001042355
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035877   ⟸   NM_001042412
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001365674   ⟸   NM_001378745
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365673   ⟸   NM_001378744
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365682   ⟸   NM_001378753
- Peptide Label: isoform 3
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365672   ⟸   NM_001378743
- Peptide Label: isoform 1
- UniProtKB: Q9NQC7 (UniProtKB/Swiss-Prot),   Q96EH0 (UniProtKB/Swiss-Prot),   Q7L3N6 (UniProtKB/Swiss-Prot),   O94934 (UniProtKB/Swiss-Prot),   Q9NZX9 (UniProtKB/Swiss-Prot),   A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365680   ⟸   NM_001378751
- Peptide Label: isoform 3
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365683   ⟸   NM_001378754
- Peptide Label: isoform 4
- UniProtKB: B3KND1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365678   ⟸   NM_001378749
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365675   ⟸   NM_001378746
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365681   ⟸   NM_001378752
- Peptide Label: isoform 3
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365676   ⟸   NM_001378747
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365679   ⟸   NM_001378750
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365677   ⟸   NM_001378748
- Peptide Label: isoform 2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365684   ⟸   NM_001378755
- Peptide Label: isoform 4
- UniProtKB: B3KND1 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000381574   ⟸   ENST00000398568
Ensembl Acc Id: ENSP00000457108   ⟸   ENST00000569681
Ensembl Acc Id: ENSP00000457576   ⟸   ENST00000569418
Ensembl Acc Id: ENSP00000392025   ⟸   ENST00000427738
Ensembl Acc Id: ENSP00000308928   ⟸   ENST00000311559
Ensembl Acc Id: ENSP00000463197   ⟸   ENST00000562884
Ensembl Acc Id: ENSP00000454515   ⟸   ENST00000564326
Ensembl Acc Id: ENSP00000455535   ⟸   ENST00000564634
Ensembl Acc Id: ENSP00000456912   ⟸   ENST00000566679
Ensembl Acc Id: ENSP00000462134   ⟸   ENST00000566206
Ensembl Acc Id: ENSP00000458507   ⟸   ENST00000566024
Ensembl Acc Id: ENSP00000456488   ⟸   ENST00000568704
RefSeq Acc Id: XP_047289612   ⟸   XM_047433656
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289617   ⟸   XM_047433661
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289619   ⟸   XM_047433663
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047289620   ⟸   XM_047433664
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047289614   ⟸   XM_047433658
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289618   ⟸   XM_047433662
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289615   ⟸   XM_047433659
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289616   ⟸   XM_047433660
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235669   ⟸   XM_054379694
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235673   ⟸   XM_054379698
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235675   ⟸   XM_054379700
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235676   ⟸   XM_054379701
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235670   ⟸   XM_054379695
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235674   ⟸   XM_054379699
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235671   ⟸   XM_054379696
- Peptide Label: isoform X1
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235672   ⟸   XM_054379697
- Peptide Label: isoform X2
- UniProtKB: A8KAB0 (UniProtKB/TrEMBL)
Protein Domains
CAP-Gly   USP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQC7-F1-model_v2 AlphaFold Q9NQC7 1-956 view protein structure

Promoters
RGD ID:6792946
Promoter ID:HG_KWN:23779
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000311559,   NM_001042355,   NM_001042412,   NM_015247,   UC002EGN.1,   UC002EGO.2,   UC002EGP.1,   UC010CBS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361649,333,006 - 49,333,702 (+)MPROMDB
RGD ID:7232201
Promoter ID:EPDNEW_H21846
Type:initiation region
Name:CYLD_1
Description:CYLD lysine 63 deubiquitinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,742,086 - 50,742,146EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2584 AgrOrtholog
COSMIC CYLD COSMIC
Ensembl Genes ENSG00000083799 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000311559 ENTREZGENE
  ENST00000311559.13 UniProtKB/Swiss-Prot
  ENST00000398568 ENTREZGENE
  ENST00000398568.6 UniProtKB/Swiss-Prot
  ENST00000427738 ENTREZGENE
  ENST00000427738.8 UniProtKB/Swiss-Prot
  ENST00000562884.1 UniProtKB/TrEMBL
  ENST00000564326 ENTREZGENE
  ENST00000564326.5 UniProtKB/Swiss-Prot
  ENST00000564634.5 UniProtKB/TrEMBL
  ENST00000566024.1 UniProtKB/TrEMBL
  ENST00000566206.5 UniProtKB/TrEMBL
  ENST00000566679.6 UniProtKB/TrEMBL
  ENST00000568704 ENTREZGENE
  ENST00000568704.2 UniProtKB/TrEMBL
  ENST00000569418 ENTREZGENE
  ENST00000569418.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083799 GTEx
HGNC ID HGNC:2584 ENTREZGENE
Human Proteome Map CYLD Human Proteome Map
InterPro CAP-Gly_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP-Gly_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C19_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1540 UniProtKB/Swiss-Prot
NCBI Gene 1540 ENTREZGENE
OMIM 605018 OMIM
PANTHER 40S RIBOSOMAL PROTEIN S3A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CAP_GLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CYLD_phos_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27084 PharmGKB
PROSITE CAP_GLY_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAP_GLY_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CAP_GLY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF74924 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KAB0 ENTREZGENE, UniProtKB/TrEMBL
  B3KND1 ENTREZGENE, UniProtKB/TrEMBL
  CYLD_HUMAN UniProtKB/Swiss-Prot
  D6CJC5_HUMAN UniProtKB/TrEMBL
  D6CJC6_HUMAN UniProtKB/TrEMBL
  D6CJC7_HUMAN UniProtKB/TrEMBL
  D6CJC8_HUMAN UniProtKB/TrEMBL
  H3BPZ5_HUMAN UniProtKB/TrEMBL
  H3BS09_HUMAN UniProtKB/TrEMBL
  H3BSW9_HUMAN UniProtKB/TrEMBL
  I3L117_HUMAN UniProtKB/TrEMBL
  J3KRR7_HUMAN UniProtKB/TrEMBL
  J3QKR2_HUMAN UniProtKB/TrEMBL
  O94934 ENTREZGENE
  Q7L3N6 ENTREZGENE
  Q96EH0 ENTREZGENE
  Q9NQC7 ENTREZGENE
  Q9NZX9 ENTREZGENE
UniProt Secondary O94934 UniProtKB/Swiss-Prot
  Q7L3N6 UniProtKB/Swiss-Prot
  Q96EH0 UniProtKB/Swiss-Prot
  Q9NZX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 CYLD  CYLD lysine 63 deubiquitinase  CYLD  cylindromatosis (turban tumor syndrome)  Symbol and/or name change 5135510 APPROVED