TPP1 (tripeptidyl peptidase 1) - Rat Genome Database

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Gene: TPP1 (tripeptidyl peptidase 1) Homo sapiens
Analyze
Symbol: TPP1
Name: tripeptidyl peptidase 1
RGD ID: 1603717
HGNC Page HGNC
Description: Enables lysophosphatidic acid binding activity; peptidase activity; and sulfatide binding activity. Involved in several processes, including bone resorption; peptide catabolic process; and protein localization to chromosome, telomeric region. Located in several cellular components, including Golgi apparatus; membrane raft; and recycling endosome. Implicated in autosomal recessive spinocerebellar ataxia 7 and neuronal ceroid lipofuscinosis 2.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cell growth-inhibiting gene 1 protein; ceroid-lipofuscinosis, neuronal 2, late infantile (Jansky-Bielschowsky disease); CLN2; GIG1; growth-inhibiting protein 1; LPIC; lysosomal pepstatin insensitive protease; lysosomal pepstatin-insensitive carboxypeptidase; lysosomal pepstatin-insensitive protease; MGC21297; SCAR7; spinocerebellar ataxia, autosomal recessive 7; TPP-1; tripeptidyl aminopeptidase; tripeptidyl peptidase I; tripeptidyl-peptidase 1; tripeptidyl-peptidase I
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: TPP1 (Gene ID: 1200) and ACD (Gene ID: 65057) share the TPP1 symbol/alias in common. TPP1 is a widely used alternative name for ACD, shelterin complex subunit and telomerase recruitment factor (ACD), which can be confused with the official symbol for TPP1 (tripeptidyl peptidase 1, GeneID 1200). [01 Jun 2018]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,612,768 - 6,619,448 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,612,768 - 6,619,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37116,633,999 - 6,640,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,590,573 - 6,597,268 (-)NCBINCBI36hg18NCBI36
Celera116,753,063 - 6,759,757 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef116,292,929 - 6,299,623 (-)NCBIHuRef
CHM1_1116,632,898 - 6,639,593 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-tert-Octylphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
alpha,alpha-trehalose  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
butanal  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gentamycin  (EXP,ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
lead(0)  (EXP)
lead(2+)  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
pirimiphos-methyl  (ISO)
pirinixic acid  (EXP)
potassium chromate  (EXP)
Propiverine  (ISO)
quercetin  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
T-2 toxin  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
Yessotoxin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:8215436   PMID:9295267   PMID:9653647   PMID:9989235   PMID:9989590   PMID:10330339   PMID:10477428   PMID:10617131   PMID:10679303   PMID:10737126   PMID:10740217  
PMID:10965052   PMID:11054422   PMID:11241479   PMID:11339651   PMID:11462245   PMID:12125808   PMID:12134079   PMID:12376936   PMID:12414822   PMID:12477932   PMID:12488460   PMID:12643545  
PMID:12698559   PMID:12754519   PMID:12950156   PMID:12975309   PMID:14609438   PMID:14702339   PMID:14736728   PMID:15143070   PMID:15158442   PMID:15317752   PMID:15342556   PMID:15489334  
PMID:15520412   PMID:15582991   PMID:15733845   PMID:16091586   PMID:16168594   PMID:16518810   PMID:17081065   PMID:17237713   PMID:17237767   PMID:17500595   PMID:17690061   PMID:17959406  
PMID:18317235   PMID:18411270   PMID:18552385   PMID:19038966   PMID:19038967   PMID:19056867   PMID:19201763   PMID:19246452   PMID:19748052   PMID:19941651   PMID:20301334   PMID:20301601  
PMID:20340139   PMID:20404094   PMID:20672930   PMID:20689811   PMID:21492153   PMID:21784683   PMID:21873635   PMID:22016395   PMID:22268729   PMID:22832778   PMID:22898364   PMID:22939629  
PMID:22989886   PMID:23249249   PMID:23266810   PMID:23376485   PMID:23418007   PMID:23533145   PMID:23587805   PMID:23956138   PMID:24271013   PMID:25172512   PMID:25544563   PMID:25659154  
PMID:25963833   PMID:26496610   PMID:26972000   PMID:27432908   PMID:27553878   PMID:27840983   PMID:28079862   PMID:28380382   PMID:28514442   PMID:28986522   PMID:29160297   PMID:29225034  
PMID:29229926   PMID:29378960   PMID:29467282   PMID:29509190   PMID:29568061   PMID:29631617   PMID:29791485   PMID:29891727   PMID:30097533   PMID:30541466   PMID:30611803   PMID:31059981  
PMID:31158366   PMID:31256057   PMID:31283065   PMID:31343991   PMID:31383750   PMID:31527615   PMID:31533043   PMID:31536960   PMID:31594818   PMID:31980649   PMID:32631363   PMID:32814053  
PMID:32994395   PMID:33549587  


Genomics

Comparative Map Data
TPP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl116,612,768 - 6,619,448 (-)EnsemblGRCh38hg38GRCh38
GRCh38116,612,768 - 6,619,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37116,633,999 - 6,640,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,590,573 - 6,597,268 (-)NCBINCBI36hg18NCBI36
Celera116,753,063 - 6,759,757 (-)NCBI
Cytogenetic Map11p15.4NCBI
HuRef116,292,929 - 6,299,623 (-)NCBIHuRef
CHM1_1116,632,898 - 6,639,593 (-)NCBICHM1_1
Tpp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,394,018 - 105,401,489 (-)NCBIGRCm39mm39
GRCm39 Ensembl7105,394,018 - 105,401,442 (-)Ensembl
GRCm387105,744,811 - 105,752,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,744,811 - 105,752,235 (-)EnsemblGRCm38mm10GRCm38
MGSCv377112,893,361 - 112,900,721 (-)NCBIGRCm37mm9NCBIm37
MGSCv367105,618,668 - 105,626,028 (-)NCBImm8
Celera7106,016,147 - 106,023,505 (-)NCBICelera
Cytogenetic Map7E3NCBI
cM Map755.97NCBI
Tpp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21160,097,984 - 160,104,108 (-)NCBI
Rnor_6.0 Ensembl1170,588,035 - 170,594,168 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01170,588,036 - 170,594,159 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01177,592,725 - 177,600,011 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,490,394 - 163,496,517 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11163,585,870 - 163,591,994 (-)NCBI
Celera1158,029,903 - 158,035,938 (-)NCBICelera
Cytogenetic Map1q32NCBI
Tpp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541422,324,856 - 22,330,912 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541422,324,847 - 22,330,912 (-)NCBIChiLan1.0ChiLan1.0
TPP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1116,427,516 - 6,434,222 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,427,522 - 6,434,222 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0116,744,815 - 6,751,556 (-)NCBIMhudiblu_PPA_v0panPan3
TPP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12129,921,764 - 29,926,974 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2129,921,764 - 29,926,986 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2129,623,623 - 29,628,832 (-)NCBI
ROS_Cfam_1.02130,747,948 - 30,753,157 (-)NCBI
UMICH_Zoey_3.12130,068,707 - 30,073,915 (-)NCBI
UNSW_CanFamBas_1.02130,234,365 - 30,239,567 (-)NCBI
UU_Cfam_GSD_1.02130,429,691 - 30,434,901 (-)NCBI
Tpp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494755,998,722 - 56,005,618 (+)NCBI
SpeTri2.0NW_004936842669,869 - 676,706 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TPP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl93,135,642 - 3,143,408 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.193,135,580 - 3,143,408 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.293,792,812 - 3,800,637 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TPP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1158,205,999 - 58,211,743 (+)NCBI
ChlSab1.1 Ensembl158,206,072 - 58,210,945 (+)Ensembl
Vero_WHO_p1.0NW_023666038156,031,787 - 156,038,501 (+)NCBI
Tpp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248178,104,934 - 8,111,049 (-)NCBI

Position Markers
D11S4088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37112,754,951 - 2,755,157UniSTSGRCh37
Build 36112,711,527 - 2,711,733RGDNCBI36
Celera112,789,795 - 2,790,005RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.5UniSTS
HuRef112,543,531 - 2,543,747UniSTS
Marshfield Genetic Map117.03UniSTS
Marshfield Genetic Map117.03RGD
Genethon Genetic Map118.2UniSTS
D11S1331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37117,292,012 - 7,292,210UniSTSGRCh37
GRCh37117,292,019 - 7,292,150UniSTSGRCh37
Build 36117,248,595 - 7,248,726RGDNCBI36
Celera117,411,102 - 7,411,298UniSTS
Celera117,411,109 - 7,411,238RGD
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11p15UniSTS
HuRef116,950,384 - 6,950,513UniSTS
HuRef116,950,377 - 6,950,573UniSTS
Marshfield Genetic Map1112.92UniSTS
Marshfield Genetic Map1112.92RGD
Genethon Genetic Map1114.8UniSTS
TNG Radiation Hybrid Map113515.0UniSTS
deCODE Assembly Map1112.05UniSTS
Stanford-G3 RH Map11237.0UniSTS
Whitehead-YAC Contig Map11 UniSTS
NCBI RH Map1122.1UniSTS
GeneMap99-G3 RH Map11237.0UniSTS
D11S3007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,640,317 - 6,640,429UniSTSGRCh37
Build 36116,596,893 - 6,597,005RGDNCBI36
Celera116,759,382 - 6,759,494RGD
Cytogenetic Map11p15UniSTS
HuRef116,299,248 - 6,299,360UniSTS
WI-11808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,634,009 - 6,634,134UniSTSGRCh37
Build 36116,590,585 - 6,590,710RGDNCBI36
Celera116,753,075 - 6,753,200RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,292,941 - 6,293,066UniSTS
GeneMap99-GB4 RH Map1136.32UniSTS
Whitehead-RH Map1142.5UniSTS
NCBI RH Map1124.0UniSTS
PMC193924P6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,634,560 - 6,634,826UniSTSGRCh37
Build 36116,591,136 - 6,591,402RGDNCBI36
Celera116,753,626 - 6,753,892RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,293,492 - 6,293,758UniSTS
RH36325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37116,635,068 - 6,635,182UniSTSGRCh37
Build 36116,591,644 - 6,591,758RGDNCBI36
Celera116,754,134 - 6,754,248RGD
Cytogenetic Map11p15UniSTS
Cytogenetic Map11p15.3UniSTS
HuRef116,294,000 - 6,294,114UniSTS
GeneMap99-GB4 RH Map1136.42UniSTS
NCBI RH Map1124.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5638
Count of miRNA genes:1226
Interacting mature miRNAs:1569
Transcripts:ENST00000299427, ENST00000428886, ENST00000436873, ENST00000524611, ENST00000524788, ENST00000524903, ENST00000524924, ENST00000528571, ENST00000528657, ENST00000528807, ENST00000528917, ENST00000530040, ENST00000531754, ENST00000532191, ENST00000533371, ENST00000534644
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2 2
Medium 2438 2917 1720 622 1937 463 4314 2089 3717 416 1454 1611 175 1 1204 2747 6 2
Low 1 74 6 2 14 2 41 108 17 3 4 2 41
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF017456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF039704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI023962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY268890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP279860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP287220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000299427   ⟹   ENSP00000299427
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,768 - 6,619,422 (-)Ensembl
RefSeq Acc Id: ENST00000428886
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,617,062 - 6,619,372 (-)Ensembl
RefSeq Acc Id: ENST00000436873   ⟹   ENSP00000398136
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,615,322 - 6,618,808 (-)Ensembl
RefSeq Acc Id: ENST00000524611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,782 - 6,615,455 (-)Ensembl
RefSeq Acc Id: ENST00000524788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,599 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000524903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,512 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000524924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,614,601 - 6,616,269 (-)Ensembl
RefSeq Acc Id: ENST00000528571   ⟹   ENSP00000434647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,617,208 - 6,619,403 (-)Ensembl
RefSeq Acc Id: ENST00000528657   ⟹   ENSP00000435001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,618,215 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000528807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,544 - 6,617,464 (-)Ensembl
RefSeq Acc Id: ENST00000528917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,617,748 - 6,619,421 (-)Ensembl
RefSeq Acc Id: ENST00000530040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,423 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000531754   ⟹   ENSP00000493706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,618,057 - 6,619,448 (-)Ensembl
RefSeq Acc Id: ENST00000533371   ⟹   ENSP00000437066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,772 - 6,619,396 (-)Ensembl
RefSeq Acc Id: ENST00000534644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,975 - 6,619,401 (-)Ensembl
RefSeq Acc Id: ENST00000642892   ⟹   ENSP00000494165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,784 - 6,619,353 (-)Ensembl
RefSeq Acc Id: ENST00000643342   ⟹   ENSP00000494324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,613,304 - 6,616,479 (-)Ensembl
RefSeq Acc Id: ENST00000643439   ⟹   ENSP00000495849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,858 - 6,619,448 (-)Ensembl
RefSeq Acc Id: ENST00000643479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,784 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000643516   ⟹   ENSP00000496372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,832 - 6,618,891 (-)Ensembl
RefSeq Acc Id: ENST00000644151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,650 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000644218   ⟹   ENSP00000493574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,786 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644683   ⟹   ENSP00000494085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,876 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644810   ⟹   ENSP00000495895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,782 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000644831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,794 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644933   ⟹   ENSP00000496133
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,912 - 6,619,381 (-)Ensembl
RefSeq Acc Id: ENST00000645020
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,616,547 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000645285   ⟹   ENSP00000495058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,784 - 6,619,381 (-)Ensembl
RefSeq Acc Id: ENST00000645331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,794 - 6,619,422 (-)Ensembl
RefSeq Acc Id: ENST00000645620   ⟹   ENSP00000493657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,801 - 6,619,369 (-)Ensembl
RefSeq Acc Id: ENST00000646691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,843 - 6,616,482 (-)Ensembl
RefSeq Acc Id: ENST00000646777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,784 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000647016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,968 - 6,618,338 (-)Ensembl
RefSeq Acc Id: ENST00000647152   ⟹   ENSP00000495893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,809 - 6,619,409 (-)Ensembl
RefSeq Acc Id: ENST00000647209   ⟹   ENSP00000495558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,613,033 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000647346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,976 - 6,619,421 (-)Ensembl
RefSeq Acc Id: ENST00000682424   ⟹   ENSP00000507321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl116,612,773 - 6,619,429 (-)Ensembl
RefSeq Acc Id: NM_000391   ⟹   NP_000382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38116,612,768 - 6,619,422 (-)NCBI
GRCh37116,633,997 - 6,640,692 (-)ENTREZGENE
Build 36116,590,573 - 6,597,268 (-)NCBI Archive
HuRef116,292,929 - 6,299,623 (-)ENTREZGENE
CHM1_1116,632,898 - 6,639,593 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000382   ⟸   NM_000391
- Peptide Label: preproprotein
- UniProtKB: O14773 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000493706   ⟸   ENST00000531754
RefSeq Acc Id: ENSP00000437066   ⟸   ENST00000533371
RefSeq Acc Id: ENSP00000299427   ⟸   ENST00000299427
RefSeq Acc Id: ENSP00000494165   ⟸   ENST00000642892
RefSeq Acc Id: ENSP00000494324   ⟸   ENST00000643342
RefSeq Acc Id: ENSP00000496372   ⟸   ENST00000643516
RefSeq Acc Id: ENSP00000495849   ⟸   ENST00000643439
RefSeq Acc Id: ENSP00000494085   ⟸   ENST00000644683
RefSeq Acc Id: ENSP00000496133   ⟸   ENST00000644933
RefSeq Acc Id: ENSP00000495895   ⟸   ENST00000644810
RefSeq Acc Id: ENSP00000493574   ⟸   ENST00000644218
RefSeq Acc Id: ENSP00000493657   ⟸   ENST00000645620
RefSeq Acc Id: ENSP00000495058   ⟸   ENST00000645285
RefSeq Acc Id: ENSP00000435001   ⟸   ENST00000528657
RefSeq Acc Id: ENSP00000434647   ⟸   ENST00000528571
RefSeq Acc Id: ENSP00000495558   ⟸   ENST00000647209
RefSeq Acc Id: ENSP00000495893   ⟸   ENST00000647152
RefSeq Acc Id: ENSP00000398136   ⟸   ENST00000436873
RefSeq Acc Id: ENSP00000507321   ⟸   ENST00000682424
Protein Domains
Peptidase S53   Pro-kuma_activ

Promoters
RGD ID:6789471
Promoter ID:HG_KWN:12224
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000379840,   NM_000391,   UC001MEK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,596,964 - 6,597,464 (-)MPROMDB
RGD ID:6852100
Promoter ID:EP73856
Type:multiple initiation site
Name:HS_CLN2
Description:Ceroid-lipofuscinosis, neuronal 2, late infantile(Jansky-Bielschowsky disease).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36116,597,229 - 6,597,289EPD
RGD ID:7219529
Promoter ID:EPDNEW_H15511
Type:initiation region
Name:TPP1_1
Description:tripeptidyl peptidase 1
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
GRCh38116,619,422 - 6,619,482EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr) single nucleotide variant not provided [RCV000520590] Chr11:6616321 [GRCh38]
Chr11:6637552 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.580G>A (p.Val194Ile) single nucleotide variant not specified [RCV000516918] Chr11:6617082 [GRCh38]
Chr11:6638313 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.78C>A (p.Asp26Glu) single nucleotide variant not provided [RCV000551985] Chr11:6619207 [GRCh38]
Chr11:6640438 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg) single nucleotide variant not provided [RCV000551335] Chr11:6614921 [GRCh38]
Chr11:6636152 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.866C>A (p.Thr289Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000546051]|not provided [RCV001294501] Chr11:6616681 [GRCh38]
Chr11:6637912 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002762]|Ceroid lipofuscinosis neuronal 2 [RCV000763267]|Inborn genetic diseases [RCV000210605]|Neuronal ceroid lipofuscinosis [RCV000230952]|not provided [RCV000189769] Chr11:6617040 [GRCh38]
Chr11:6638271 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.887-10A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002768]|not provided [RCV000359791] Chr11:6616513 [GRCh38]
Chr11:6637744 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.579T>C (p.Thr193=) single nucleotide variant not provided [RCV001450158] Chr11:6617083 [GRCh38]
Chr11:6638314 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001290314] Chr11:6615256 [GRCh38]
Chr11:6636487 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000543742]|not provided [RCV001366977] Chr11:6614966 [GRCh38]
Chr11:6636197 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.380+5G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000735435]|Neuronal ceroid lipofuscinosis [RCV000988484] Chr11:6617621 [GRCh38]
Chr11:6638852 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.554G>A (p.Arg185His) single nucleotide variant not provided [RCV000548960] Chr11:6617108 [GRCh38]
Chr11:6638339 [GRCh37]
Chr11:11p15.4
benign|uncertain significance
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273172]|Neuronal ceroid lipofuscinosis [RCV000544340]|Seizures [RCV000678854]|not provided [RCV000993341] Chr11:6615289 [GRCh38]
Chr11:6636520 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274547]|Neuronal ceroid lipofuscinosis [RCV000632706]|Seizures [RCV000720484]|not provided [RCV001298569]|not specified [RCV000516351] Chr11:6619202 [GRCh38]
Chr11:6640433 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.626A>G (p.Tyr209Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000527346]|not provided [RCV001361944] Chr11:6617036 [GRCh38]
Chr11:6638267 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1551+5G>A single nucleotide variant not provided [RCV000522147] Chr11:6614861 [GRCh38]
Chr11:6636092 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1093T>C (p.Cys365Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002760]|not provided [RCV001248011] Chr11:6616057 [GRCh38]
Chr11:6637288 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002761]|Neuronal ceroid lipofuscinosis [RCV000526403]|not provided [RCV000189781] Chr11:6616056 [GRCh38]
Chr11:6637287 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
NM_000391.4(TPP1):c.509-1G>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002763]|Ceroid lipofuscinosis neuronal 2 [RCV000763268]|Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [RCV000074608]|Inborn genetic diseases [RCV000210689]|Neuronal ceroid lipofuscinosis [RCV000228119]|not provided [RCV000189765] Chr11:6617154 [GRCh38]
Chr11:6638385 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002764]|not provided [RCV000189790] Chr11:6615256 [GRCh38]
Chr11:6636487 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.616C>T (p.Arg206Cys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002765]|not provided [RCV001382645] Chr11:6617046 [GRCh38]
Chr11:6638277 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002766]|Ceroid lipofuscinosis neuronal 2 [RCV000763266]|not provided [RCV000531153] Chr11:6616696 [GRCh38]
Chr11:6637927 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000002767] Chr11:6616690 [GRCh38]
Chr11:6637921 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) single nucleotide variant Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [RCV000074609]|Neuronal ceroid lipofuscinosis [RCV000542832] Chr11:6615199 [GRCh38]
Chr11:6636430 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 copy number gain See cases [RCV000053616] Chr11:3745061..7846057 [GRCh38]
Chr11:3766291..7867604 [GRCh37]
Chr11:3722867..7824180 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_000391.4(TPP1):c.1027G>A (p.Glu343Lys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059616]|not provided [RCV001069102] Chr11:6616363 [GRCh38]
Chr11:6637594 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000391.4(TPP1):c.1057A>C (p.Thr353Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059617] Chr11:6616333 [GRCh38]
Chr11:6637564 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.1154T>A (p.Val385Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059618] Chr11:6615554 [GRCh38]
Chr11:6636785 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059619]|not provided [RCV000541263] Chr11:6615542 [GRCh38]
Chr11:6636773 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059620]|Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [RCV001252369]|Inborn genetic diseases [RCV000210643]|Neuronal ceroid lipofuscinosis [RCV000529451]|not provided [RCV000189782] Chr11:6615442 [GRCh38]
Chr11:6636673 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059621] Chr11:6615235 [GRCh38]
Chr11:6636466 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059622] Chr11:6615179 [GRCh38]
Chr11:6636410 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059623]|not provided [RCV000800616] Chr11:6615172 [GRCh38]
Chr11:6636403 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000391.4(TPP1):c.1444G>C (p.Gly482Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059624] Chr11:6614973 [GRCh38]
Chr11:6636204 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059625] Chr11:6614608 [GRCh38]
Chr11:6635839 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.229G>A (p.Gly77Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059626] Chr11:6618776 [GRCh38]
Chr11:6640007 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104756]|Neuronal ceroid lipofuscinosis [RCV000988485]|Seizures [RCV000716141]|not provided [RCV000059627]|not specified [RCV000118654] Chr11:6617707 [GRCh38]
Chr11:6638938 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059628]|not provided [RCV000494361] Chr11:6617626 [GRCh38]
Chr11:6638857 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059629] Chr11:6617057 [GRCh38]
Chr11:6638288 [GRCh37]
Chr11:11p15.4
likely pathogenic|not provided
NM_000391.4(TPP1):c.617G>A (p.Arg206His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059630]|Neuronal ceroid lipofuscinosis [RCV000469057]|not provided [RCV001200081] Chr11:6617045 [GRCh38]
Chr11:6638276 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance|not provided
NM_000391.4(TPP1):c.829G>A (p.Val277Met) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059631] Chr11:6616718 [GRCh38]
Chr11:6637949 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000059632] Chr11:6616687 [GRCh38]
Chr11:6637918 [GRCh37]
Chr11:11p15.4
not provided
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) single nucleotide variant not provided [RCV000118656] Chr11:6616814 [GRCh38]
Chr11:6638045 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000674709]|Ceroid lipofuscinosis neuronal 2 [RCV001280958]|Seizures [RCV000720654]|not provided [RCV000723684]|not specified [RCV000189797] Chr11:6619387 [GRCh38]
Chr11:6640618 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.840G>C (p.Leu280=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000343988]|Seizures [RCV000716298]|not provided [RCV000473376]|not specified [RCV000118657] Chr11:6616707 [GRCh38]
Chr11:6637938 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102828]|Seizures [RCV000715505]|not provided [RCV000675457]|not specified [RCV000118649] Chr11:6616346 [GRCh38]
Chr11:6637577 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.1266+5G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000267775]|Seizures [RCV000715964]|not provided [RCV000224226]|not specified [RCV000118650] Chr11:6615437 [GRCh38]
Chr11:6636668 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000303128]|Seizures [RCV000716324]|not provided [RCV000675453]|not specified [RCV000118651] Chr11:6614923 [GRCh38]
Chr11:6636154 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000601152]|Seizures [RCV000715174]|not provided [RCV000587812]|not specified [RCV000118652] Chr11:6614875 [GRCh38]
Chr11:6636106 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000509378]|Seizures [RCV000717754]|not provided [RCV000118653]|not specified [RCV000186669] Chr11:6617713 [GRCh38]
Chr11:6638944 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters|not provided
NM_000391.4(TPP1):c.441A>G (p.Glu147=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000290078]|Seizures [RCV000715179]|not provided [RCV000675464]|not specified [RCV000118655] Chr11:6617368 [GRCh38]
Chr11:6638599 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001105890]|Seizures [RCV000717384]|not provided [RCV000713863]|not specified [RCV000125584] Chr11:6618820 [GRCh38]
Chr11:6640051 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.513G>T (p.Gly171=) single nucleotide variant not provided [RCV000632752]|not specified [RCV000125586] Chr11:6617149 [GRCh38]
Chr11:6638380 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.688-18C>T single nucleotide variant not provided [RCV001467906]|not specified [RCV000125587] Chr11:6616877 [GRCh38]
Chr11:6638108 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000625039]|Seizures [RCV000715950]|not provided [RCV000713859]|not specified [RCV000125589] Chr11:6616033 [GRCh38]
Chr11:6637264 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000671745]|not provided [RCV000868268]|not specified [RCV000125590] Chr11:6616025 [GRCh38]
Chr11:6637256 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001108043]|Seizures [RCV000716483]|not provided [RCV000465600]|not specified [RCV000125591] Chr11:6615455 [GRCh38]
Chr11:6636686 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001108042]|Seizures [RCV000719545]|not provided [RCV000473474]|not specified [RCV000125593] Chr11:6615200 [GRCh38]
Chr11:6636431 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1426-10A>G single nucleotide variant not provided [RCV000557672]|not specified [RCV000125594] Chr11:6615001 [GRCh38]
Chr11:6636232 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) single nucleotide variant Seizures [RCV000718582]|not provided [RCV000713861]|not specified [RCV000125596] Chr11:6614920 [GRCh38]
Chr11:6636151 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.42C>A (p.Ile14=) single nucleotide variant Seizures [RCV000716188]|not provided [RCV000457457]|not specified [RCV000125597] Chr11:6619243 [GRCh38]
Chr11:6640474 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) single nucleotide variant not provided [RCV001302464] Chr11:6616745 [GRCh38]
Chr11:6637976 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.688-1G>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001290315] Chr11:6616860 [GRCh38]
Chr11:6638091 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.4G>C (p.Gly2Arg) single nucleotide variant not provided [RCV001302786] Chr11:6619397 [GRCh38]
Chr11:6640628 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000322901]|Ceroid lipofuscinosis neuronal 2 [RCV001280959]|Seizures [RCV000719699]|not provided [RCV000724076] Chr11:6615467 [GRCh38]
Chr11:6636698 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1552-9C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107389]|not provided [RCV000724266]|not specified [RCV000174471] Chr11:6614695 [GRCh38]
Chr11:6635926 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1
pathogenic
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000202601] Chr11:6615220 [GRCh38]
Chr11:6636451 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3 copy number gain See cases [RCV000136804] Chr11:6261582..6637999 [GRCh38]
Chr11:6282812..6659230 [GRCh37]
Chr11:6239388..6615806 [NCBI36]
Chr11:11p15.4
pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) single nucleotide variant Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [RCV000211004] Chr11:6616361 [GRCh38]
Chr11:6637592 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000169200] Chr11:6616411..6616418 [GRCh38]
Chr11:6637642..6637649 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1551+1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000169269]|not provided [RCV000524081] Chr11:6614865 [GRCh38]
Chr11:6636096 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000169608]|Neuronal ceroid lipofuscinosis [RCV000532519]|not provided [RCV000189791] Chr11:6615217 [GRCh38]
Chr11:6636448 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.244C>T (p.Leu82=) single nucleotide variant not provided [RCV000178082] Chr11:6617762 [GRCh38]
Chr11:6638993 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.381-10dup duplication Ceroid lipofuscinosis neuronal 2 [RCV000678677]|Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000340409]|not provided [RCV000675465]|not specified [RCV000178763] Chr11:6617437..6617438 [GRCh38]
Chr11:6638668..6638669 [GRCh37]
Chr11:11p15.4
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.510G>A (p.Val170=) single nucleotide variant not provided [RCV000179299] Chr11:6617152 [GRCh38]
Chr11:6638383 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) single nucleotide variant Seizures [RCV000717907]|not provided [RCV000724369]|not specified [RCV000179300] Chr11:6617120 [GRCh38]
Chr11:6638351 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275124]|Neuronal ceroid lipofuscinosis [RCV001242013]|not provided [RCV000724258] Chr11:6617139 [GRCh38]
Chr11:6638370 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000625040]|not provided [RCV000180153] Chr11:6616374 [GRCh38]
Chr11:6637605 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275128]|not provided [RCV000724375] Chr11:6618887 [GRCh38]
Chr11:6640118 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509-1G>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000666428]|not provided [RCV000391641] Chr11:6617154 [GRCh38]
Chr11:6638385 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.216C>A (p.Ser72Arg) single nucleotide variant not specified [RCV000189739] Chr11:6618789 [GRCh38]
Chr11:6640020 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) single nucleotide variant not provided [RCV001447893]|not specified [RCV000189744] Chr11:6616388 [GRCh38]
Chr11:6637619 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) single nucleotide variant not specified [RCV000189746] Chr11:6615203 [GRCh38]
Chr11:6636434 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.128C>G (p.Pro43Arg) single nucleotide variant not provided [RCV000189752] Chr11:6618877 [GRCh38]
Chr11:6640108 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.200C>G (p.Ala67Gly) single nucleotide variant not provided [RCV000189756] Chr11:6618805 [GRCh38]
Chr11:6640036 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.404G>A (p.Gly135Glu) single nucleotide variant not provided [RCV000189760] Chr11:6617405 [GRCh38]
Chr11:6638636 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.497A>T (p.His166Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275125]|Neuronal ceroid lipofuscinosis [RCV000528275]|not provided [RCV001360553] Chr11:6617312 [GRCh38]
Chr11:6638543 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.520C>T (p.His174Tyr) single nucleotide variant not provided [RCV000189766] Chr11:6617142 [GRCh38]
Chr11:6638373 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000209853]|not provided [RCV000189774] Chr11:6616714 [GRCh38]
Chr11:6637945 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.845G>A (p.Ser282Asn) single nucleotide variant not provided [RCV000189775] Chr11:6616702 [GRCh38]
Chr11:6637933 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102831]|Neuronal ceroid lipofuscinosis [RCV000807775]|not provided [RCV000189777] Chr11:6616500 [GRCh38]
Chr11:6637731 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) single nucleotide variant not provided [RCV000189784] Chr11:6615527 [GRCh38]
Chr11:6636758 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu) single nucleotide variant not provided [RCV000189792] Chr11:6615194 [GRCh38]
Chr11:6636425 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter) single nucleotide variant not provided [RCV001385651] Chr11:6614638 [GRCh38]
Chr11:6635869 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.37C>T (p.Leu13Phe) single nucleotide variant not provided [RCV000189798] Chr11:6619248 [GRCh38]
Chr11:6640479 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241048]|not specified [RCV000189740] Chr11:6618777 [GRCh38]
Chr11:6640008 [GRCh37]
Chr11:11p15.4
benign|uncertain significance
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274545]|Seizures [RCV000718344]|not provided [RCV000766956]|not specified [RCV000189741] Chr11:6617746 [GRCh38]
Chr11:6638977 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) single nucleotide variant not provided [RCV000189742] Chr11:6617130 [GRCh38]
Chr11:6638361 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.688-7T>A single nucleotide variant not provided [RCV000632746]|not specified [RCV000189743] Chr11:6616866 [GRCh38]
Chr11:6638097 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1383G>A (p.Val461=) single nucleotide variant not provided [RCV000861685]|not specified [RCV000189745] Chr11:6615213 [GRCh38]
Chr11:6636444 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.3(TPP1):c.-40T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000356414]|not specified [RCV000189747] Chr11:6619440 [GRCh38]
Chr11:6640671 [GRCh37]
Chr11:11p15.4
benign|uncertain significance
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274548]|Seizures [RCV000718165]|not provided [RCV000726300]|not specified [RCV000189748] Chr11:6619394 [GRCh38]
Chr11:6640625 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001105891]|not provided [RCV000476891]|not specified [RCV000189749] Chr11:6619220 [GRCh38]
Chr11:6640451 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000341505]|Ceroid lipofuscinosis neuronal 2 [RCV000765001]|Neuronal ceroid lipofuscinosis [RCV000688734]|not provided [RCV000189750] Chr11:6618904 [GRCh38]
Chr11:6640135 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000984312]|Inborn genetic diseases [RCV000210549]|Neuronal ceroid lipofuscinosis [RCV000550405]|not provided [RCV000189751] Chr11:6617695 [GRCh38]
Chr11:6638926 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.138G>T (p.Glu46Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000305227]|Neuronal ceroid lipofuscinosis [RCV001202588]|not provided [RCV000189753] Chr11:6618867 [GRCh38]
Chr11:6640098 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000824347]|not provided [RCV000189754] Chr11:6618809 [GRCh38]
Chr11:6640040 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) single nucleotide variant not provided [RCV000189755] Chr11:6618808 [GRCh38]
Chr11:6640039 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000673684]|not provided [RCV000189757] Chr11:6618776 [GRCh38]
Chr11:6640007 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000765000]|Ceroid lipofuscinosis neuronal 2 [RCV001274542]|not provided [RCV000189758] Chr11:6617687 [GRCh38]
Chr11:6638918 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000763269]|Ceroid lipofuscinosis neuronal 2 [RCV001004372]|Neuronal ceroid lipofuscinosis [RCV000792396]|not provided [RCV000189759] Chr11:6617627 [GRCh38]
Chr11:6638858 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.425T>G (p.Val142Gly) single nucleotide variant not provided [RCV000189761] Chr11:6617384 [GRCh38]
Chr11:6638615 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104754]|not provided [RCV000189762] Chr11:6617336 [GRCh38]
Chr11:6638567 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509-1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000673911]|Neuronal ceroid lipofuscinosis [RCV000586250]|not provided [RCV000189764] Chr11:6617154 [GRCh38]
Chr11:6638385 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.524G>A (p.Arg175His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275123]|not provided [RCV001070245]|not specified [RCV000189767] Chr11:6617138 [GRCh38]
Chr11:6638369 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) single nucleotide variant Seizures [RCV000719066]|not provided [RCV000466705]|not specified [RCV000189768] Chr11:6617109 [GRCh38]
Chr11:6638340 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274540]|not provided [RCV000189770] Chr11:6617024 [GRCh38]
Chr11:6638255 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.776G>A (p.Arg259His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000764999]|Ceroid lipofuscinosis neuronal 2 [RCV001274539]|Neuronal ceroid lipofuscinosis [RCV001037713]|Seizures [RCV000720588]|not provided [RCV000189771] Chr11:6616771 [GRCh38]
Chr11:6638002 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275122]|Seizures [RCV000720128]|not provided [RCV000189772] Chr11:6616750 [GRCh38]
Chr11:6637981 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000666770]|not provided [RCV000189773] Chr11:6616720 [GRCh38]
Chr11:6637951 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.992C>T (p.Ser331Phe) single nucleotide variant not provided [RCV000189778] Chr11:6616398 [GRCh38]
Chr11:6637629 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001329231]|Seizures [RCV000720076]|not provided [RCV000189779] Chr11:6616375 [GRCh38]
Chr11:6637606 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000764998]|Ceroid lipofuscinosis neuronal 2 [RCV001273174]|not provided [RCV000189783] Chr11:6616012 [GRCh38]
Chr11:6637243 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273173]|Neuronal ceroid lipofuscinosis [RCV000457576]|not provided [RCV000189785] Chr11:6615491 [GRCh38]
Chr11:6636722 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000764997]|Intellectual disability [RCV001252368]|not provided [RCV000189787] Chr11:6615316 [GRCh38]
Chr11:6636547 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) single nucleotide variant not provided [RCV000189788] Chr11:6615307 [GRCh38]
Chr11:6636538 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp) single nucleotide variant not provided [RCV000189789] Chr11:6615265 [GRCh38]
Chr11:6636496 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000764996]|Ceroid lipofuscinosis neuronal 2 [RCV001274537]|Neuronal ceroid lipofuscinosis [RCV000632684]|not provided [RCV000189793] Chr11:6614891 [GRCh38]
Chr11:6636122 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274536]|not provided [RCV000189794] Chr11:6614874 [GRCh38]
Chr11:6636105 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000701589]|not provided [RCV000189796] Chr11:6614574 [GRCh38]
Chr11:6635805 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.89+5G>C single nucleotide variant not provided [RCV000189799] Chr11:6619191 [GRCh38]
Chr11:6640422 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000384515]|not provided [RCV000725967]|not specified [RCV000189800] Chr11:6616751 [GRCh38]
Chr11:6637982 [GRCh37]
Chr11:11p15.4
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.1303C>G (p.His435Asp) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632677]|not provided [RCV000189801] Chr11:6615293 [GRCh38]
Chr11:6636524 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr) single nucleotide variant not provided [RCV000189802] Chr11:6614628 [GRCh38]
Chr11:6635859 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000207147] Chr11:6617353 [GRCh38]
Chr11:6638584 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000234817] Chr11:6617319..6617352 [GRCh38]
Chr11:6638550..6638583 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000234824] Chr11:6617338 [GRCh38]
Chr11:6638569 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000669857] Chr11:6617352 [GRCh38]
Chr11:6638583 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:6639647-6641899)x1 copy number loss See cases [RCV000240026] Chr11:6639647..6641899 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.6A>T (p.Gly2=) single nucleotide variant not provided [RCV000728656]|not specified [RCV000601158] Chr11:6619395 [GRCh38]
Chr11:6640626 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.*44T>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000306279] Chr11:6614502 [GRCh38]
Chr11:6635733 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1116C>T (p.His372=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000354560] Chr11:6616034 [GRCh38]
Chr11:6637265 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1588C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000273317] Chr11:6612958 [GRCh38]
Chr11:6634189 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.*71G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000404663] Chr11:6614475 [GRCh38]
Chr11:6635706 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.*1428T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000359276] Chr11:6613118 [GRCh38]
Chr11:6634349 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*314del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000295924] Chr11:6614232 [GRCh38]
Chr11:6635463 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000259663]|not provided [RCV000632726]|not specified [RCV000423799] Chr11:6616357 [GRCh38]
Chr11:6637588 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000391.3(TPP1):c.-33C>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000296861]|not specified [RCV000428971] Chr11:6619433 [GRCh38]
Chr11:6640664 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.*986C>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000281304] Chr11:6613560 [GRCh38]
Chr11:6634791 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.*1118G>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000316562] Chr11:6613428 [GRCh38]
Chr11:6634659 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000365676]|not provided [RCV000726663]|not specified [RCV000444737] Chr11:6614585 [GRCh38]
Chr11:6635816 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) single nucleotide variant not provided [RCV000270685] Chr11:6616997 [GRCh38]
Chr11:6638228 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-10_887-6del deletion not specified [RCV000302045] Chr11:6616509..6616513 [GRCh38]
Chr11:6637740..6637744 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.*1216dup duplication Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000280199] Chr11:6613329..6613330 [GRCh38]
Chr11:6634560..6634561 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.-21G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000395682] Chr11:6619421 [GRCh38]
Chr11:6640652 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*785T>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000349629] Chr11:6613761 [GRCh38]
Chr11:6634992 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.687+20C>T single nucleotide variant not provided [RCV000280348] Chr11:6616955 [GRCh38]
Chr11:6638186 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.887-6del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000273949]|not provided [RCV000675461] Chr11:6616509 [GRCh38]
Chr11:6637740 [GRCh37]
Chr11:11p15.4
benign|uncertain significance
NM_000391.4(TPP1):c.*1570C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000328365] Chr11:6612976 [GRCh38]
Chr11:6634207 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*312T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000350783] Chr11:6614234 [GRCh38]
Chr11:6635465 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1558C>A (p.Arg520Ser) single nucleotide variant not provided [RCV000281403] Chr11:6614680 [GRCh38]
Chr11:6635911 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1412T>G single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000264580] Chr11:6613134 [GRCh38]
Chr11:6634365 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-7_887-6del deletion Ceroid lipofuscinosis neuronal 2 [RCV001273176]|Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000333752]|not provided [RCV000675458]|not specified [RCV000611293] Chr11:6616509..6616510 [GRCh38]
Chr11:6637740..6637741 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000357888]|not provided [RCV000867657] Chr11:6615315 [GRCh38]
Chr11:6636546 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.938_939del (p.Asn313fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000411972]|not provided [RCV000379065] Chr11:6616451..6616452 [GRCh38]
Chr11:6637682..6637683 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.*1628G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000363243] Chr11:6612918 [GRCh38]
Chr11:6634149 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.381-2A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000670849]|Neuronal ceroid lipofuscinosis [RCV000589489] Chr11:6617430 [GRCh38]
Chr11:6638661 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278538]|not provided [RCV001346565] Chr11:6616060 [GRCh38]
Chr11:6637291 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) single nucleotide variant not provided [RCV000489192] Chr11:6615257 [GRCh38]
Chr11:6636488 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102830]|Neuronal ceroid lipofuscinosis [RCV000632703]|Seizures [RCV000716404]|not provided [RCV000489363] Chr11:6616443 [GRCh38]
Chr11:6637674 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr) single nucleotide variant not provided [RCV000489694] Chr11:6616345 [GRCh38]
Chr11:6637576 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.514G>A (p.Gly172Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278541] Chr11:6617148 [GRCh38]
Chr11:6638379 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.35C>T (p.Ala12Val) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278545] Chr11:6619250 [GRCh38]
Chr11:6640481 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-5T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278546] Chr11:6619272 [GRCh38]
Chr11:6640503 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-5del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000319602] Chr11:6616508 [GRCh38]
Chr11:6637739 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*668C>A single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000405420] Chr11:6613878 [GRCh38]
Chr11:6635109 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1634T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000308532] Chr11:6612912 [GRCh38]
Chr11:6634143 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1774G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000371192] Chr11:6612772 [GRCh38]
Chr11:6634003 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1311C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000324411] Chr11:6613235 [GRCh38]
Chr11:6634466 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-6_887-5del deletion Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000374250] Chr11:6616508..6616509 [GRCh38]
Chr11:6637739..6637740 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1000T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000375789] Chr11:6613546 [GRCh38]
Chr11:6634777 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.886+7C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000289036]|not provided [RCV001476514] Chr11:6616654 [GRCh38]
Chr11:6637885 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.*1302A>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000379045] Chr11:6613244 [GRCh38]
Chr11:6634475 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1715T>C single nucleotide variant Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000397968] Chr11:6612831 [GRCh38]
Chr11:6634062 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1076-18A>G single nucleotide variant not provided [RCV000589362] Chr11:6616092 [GRCh38]
Chr11:6637323 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.213C>T (p.Pro71=) single nucleotide variant not provided [RCV000868155]|not specified [RCV000602910] Chr11:6618792 [GRCh38]
Chr11:6640023 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1089C>T (p.Ala363=) single nucleotide variant not provided [RCV000632747] Chr11:6616061 [GRCh38]
Chr11:6637292 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000814055]|not provided [RCV000598289] Chr11:6614922 [GRCh38]
Chr11:6636153 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.609dup (p.Val204fs) duplication Ceroid lipofuscinosis neuronal 2 [RCV000409411] Chr11:6617052..6617053 [GRCh38]
Chr11:6638283..6638284 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) duplication Ceroid lipofuscinosis neuronal 2 [RCV000410133]|not provided [RCV001390448] Chr11:6614967..6614968 [GRCh38]
Chr11:6636198..6636199 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1661dup (p.Ala555fs) duplication Ceroid lipofuscinosis neuronal 2 [RCV000410236] Chr11:6614576..6614577 [GRCh38]
Chr11:6635807..6635808 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.230-1G>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000410411] Chr11:6617777 [GRCh38]
Chr11:6639008 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.819del (p.Ser274fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000410935] Chr11:6616728 [GRCh38]
Chr11:6637959 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1145+1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000411197]|Neuronal ceroid lipofuscinosis [RCV000809775]|not provided [RCV001378362] Chr11:6616004 [GRCh38]
Chr11:6637235 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.640C>T (p.Gln214Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000411357] Chr11:6617022 [GRCh38]
Chr11:6638253 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1551+1G>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000411444]|not provided [RCV001038809] Chr11:6614865 [GRCh38]
Chr11:6636096 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000411513] Chr11:6615449 [GRCh38]
Chr11:6636680 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1266+8T>C single nucleotide variant not provided [RCV000555542] Chr11:6615434 [GRCh38]
Chr11:6636665 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+2T>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000411672]|Developmental regression [RCV000788077] Chr11:6616973 [GRCh38]
Chr11:6638204 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1426-10A>T single nucleotide variant not provided [RCV000536136] Chr11:6615001 [GRCh38]
Chr11:6636232 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000409021] Chr11:6614687 [GRCh38]
Chr11:6635918 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.207G>A (p.Ser69=) single nucleotide variant not provided [RCV000946272]|not specified [RCV000434211] Chr11:6618798 [GRCh38]
Chr11:6640029 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.139C>T (p.Leu47=) single nucleotide variant not specified [RCV000434219] Chr11:6618866 [GRCh38]
Chr11:6640097 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.-12C>T single nucleotide variant not specified [RCV000417714] Chr11:6619412 [GRCh38]
Chr11:6640643 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.828T>C (p.Asp276=) single nucleotide variant not provided [RCV001440653]|not specified [RCV000418018] Chr11:6616719 [GRCh38]
Chr11:6637950 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.645C>T (p.Asp215=) single nucleotide variant not provided [RCV001405480]|not specified [RCV000438298] Chr11:6617017 [GRCh38]
Chr11:6638248 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.123G>A (p.Ala41=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000690336]|not specified [RCV000429292] Chr11:6618882 [GRCh38]
Chr11:6640113 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.1515A>G (p.Pro505=) single nucleotide variant not specified [RCV000424769] Chr11:6614902 [GRCh38]
Chr11:6636133 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1362A>G (p.Ala454=) single nucleotide variant not provided [RCV001398514]|not specified [RCV000428301] Chr11:6615234 [GRCh38]
Chr11:6636465 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1146-18G>A single nucleotide variant not specified [RCV000428708] Chr11:6615580 [GRCh38]
Chr11:6636811 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.69G>A (p.Pro23=) single nucleotide variant Seizures [RCV000720147]|not provided [RCV000541669]|not specified [RCV000435458] Chr11:6619216 [GRCh38]
Chr11:6640447 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.-3A>G single nucleotide variant not specified [RCV000439298] Chr11:6619403 [GRCh38]
Chr11:6640634 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.-20C>G single nucleotide variant not specified [RCV000425524] Chr11:6619420 [GRCh38]
Chr11:6640651 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.18-10G>T single nucleotide variant not provided [RCV000713862]|not specified [RCV000429026] Chr11:6619277 [GRCh38]
Chr11:6640508 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887-18A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000984313]|not provided [RCV000428562] Chr11:6616521 [GRCh38]
Chr11:6637752 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.75C>T (p.Pro25=) single nucleotide variant not provided [RCV001434898]|not specified [RCV000422500] Chr11:6619210 [GRCh38]
Chr11:6640441 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-19C>T single nucleotide variant not specified [RCV000443708] Chr11:6617795 [GRCh38]
Chr11:6639026 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.380+3G>A single nucleotide variant not specified [RCV000422701] Chr11:6617623 [GRCh38]
Chr11:6638854 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.318C>T (p.Ala106=) single nucleotide variant not provided [RCV000632696]|not specified [RCV000440393] Chr11:6617688 [GRCh38]
Chr11:6638919 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-5T>C single nucleotide variant not provided [RCV000863964]|not specified [RCV000440594] Chr11:6617158 [GRCh38]
Chr11:6638389 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001375972]|Seizures [RCV000716848]|not provided [RCV000437106] Chr11:6616332 [GRCh38]
Chr11:6637563 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.435T>C (p.Pro145=) single nucleotide variant not provided [RCV001480945]|not specified [RCV000433843] Chr11:6617374 [GRCh38]
Chr11:6638605 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.420C>T (p.His140=) single nucleotide variant not specified [RCV000444509] Chr11:6617389 [GRCh38]
Chr11:6638620 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) single nucleotide variant Seizures [RCV000715596]|not provided [RCV000866538]|not specified [RCV000434108] Chr11:6616064 [GRCh38]
Chr11:6637295 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser) single nucleotide variant not provided [RCV000464531] Chr11:6614951 [GRCh38]
Chr11:6636182 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.182T>G (p.Leu61Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000465968]|not provided [RCV001379112] Chr11:6618823 [GRCh38]
Chr11:6640054 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.688-4A>G single nucleotide variant not provided [RCV000470536]|not specified [RCV000601663] Chr11:6616863 [GRCh38]
Chr11:6638094 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001108044]|Neuronal ceroid lipofuscinosis [RCV000470759]|Seizures [RCV000716881]|not provided [RCV001298323] Chr11:6615516 [GRCh38]
Chr11:6636747 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.274del (p.Ser92fs) deletion not provided [RCV000480719] Chr11:6617732 [GRCh38]
Chr11:6638963 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.511G>C (p.Gly171Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278542]|not provided [RCV000484558] Chr11:6617151 [GRCh38]
Chr11:6638382 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1116C>G (p.His372Gln) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001067247]|not provided [RCV000481665] Chr11:6616034 [GRCh38]
Chr11:6637265 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.206C>G (p.Ser69Trp) single nucleotide variant not provided [RCV000481891] Chr11:6618799 [GRCh38]
Chr11:6640030 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.500_503dup (p.Phe169fs) duplication not provided [RCV000478948] Chr11:6617305..6617306 [GRCh38]
Chr11:6638536..6638537 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273170]|Neuronal ceroid lipofuscinosis [RCV000459337] Chr11:6614921 [GRCh38]
Chr11:6636152 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.297G>A (p.Val99=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000460696]|not provided [RCV001467938] Chr11:6617709 [GRCh38]
Chr11:6638940 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.9:g.6638385G>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000509343] Chr11:6638385 [GRCh37]
Chr11:11p15.4
not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
NM_000391.4(TPP1):c.787C>T (p.Gln263Ter) single nucleotide variant not provided [RCV000494434] Chr11:6616760 [GRCh38]
Chr11:6637991 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1146-1G>A single nucleotide variant not provided [RCV000494500] Chr11:6615563 [GRCh38]
Chr11:6636794 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup) duplication Ceroid lipofuscinosis neuronal 2 [RCV000578444] Chr11:6615251..6615252 [GRCh38]
Chr11:6636482..6636483 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000391.4(TPP1):c.665A>C (p.Asn222Thr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000702771]|not provided [RCV001371426] Chr11:6616997 [GRCh38]
Chr11:6638228 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000695698]|not provided [RCV001364830] Chr11:6616381 [GRCh38]
Chr11:6637612 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273171]|Neuronal ceroid lipofuscinosis [RCV000537019]|not provided [RCV000713860] Chr11:6614927 [GRCh38]
Chr11:6636158 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) single nucleotide variant Seizures [RCV001281468]|not provided [RCV000632719] Chr11:6616431 [GRCh38]
Chr11:6637662 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.381-4C>G single nucleotide variant not provided [RCV000632765] Chr11:6617432 [GRCh38]
Chr11:6638663 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.219T>C (p.Ser73=) single nucleotide variant not provided [RCV000632766] Chr11:6618786 [GRCh38]
Chr11:6640017 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV000632686] Chr11:6618878 [GRCh38]
Chr11:6640109 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.808G>A (p.Gly270Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632698] Chr11:6616739 [GRCh38]
Chr11:6637970 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632705] Chr11:6614982 [GRCh38]
Chr11:6636213 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632711]|not provided [RCV001359419] Chr11:6616689 [GRCh38]
Chr11:6637920 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1593A>G (p.Val531=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632744]|not provided [RCV001490959] Chr11:6614645 [GRCh38]
Chr11:6635876 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.669C>T (p.Asn223=) single nucleotide variant not provided [RCV000632773] Chr11:6616993 [GRCh38]
Chr11:6638224 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.229+8T>C single nucleotide variant not provided [RCV000632762] Chr11:6618768 [GRCh38]
Chr11:6639999 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.544C>T (p.Leu182=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632770]|not provided [RCV001391778] Chr11:6617118 [GRCh38]
Chr11:6638349 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273175]|not provided [RCV000594927] Chr11:6616341 [GRCh38]
Chr11:6637572 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) deletion Ceroid lipofuscinosis neuronal 2 [RCV000672326] Chr11:6616343..6616348 [GRCh38]
Chr11:6637574..6637579 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1497del (p.Gly501fs) deletion Inborn genetic diseases [RCV000624559] Chr11:6614920 [GRCh38]
Chr11:6636151 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.960G>C (p.Val320=) single nucleotide variant not specified [RCV000615574] Chr11:6616430 [GRCh38]
Chr11:6637661 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.741C>T (p.Phe247=) single nucleotide variant not provided [RCV000865677]|not specified [RCV000616000] Chr11:6616806 [GRCh38]
Chr11:6638037 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000554630] Chr11:6615268 [GRCh38]
Chr11:6636499 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1470G>A (p.Glu490=) single nucleotide variant not provided [RCV001405549]|not specified [RCV000616189] Chr11:6614947 [GRCh38]
Chr11:6636178 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1377C>T (p.Tyr459=) single nucleotide variant not specified [RCV000613206] Chr11:6615219 [GRCh38]
Chr11:6636450 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-7C>T single nucleotide variant not provided [RCV001486746]|not specified [RCV000608232] Chr11:6616081 [GRCh38]
Chr11:6637312 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.330G>A (p.Lys110=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275126]|not provided [RCV000866927]|not specified [RCV000616891] Chr11:6617676 [GRCh38]
Chr11:6638907 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1407A>T (p.Pro469=) single nucleotide variant not specified [RCV000611330] Chr11:6615189 [GRCh38]
Chr11:6636420 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1569T>C (p.His523=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000535527]|not provided [RCV001411292] Chr11:6614669 [GRCh38]
Chr11:6635900 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys) single nucleotide variant not provided [RCV000558562] Chr11:6614928 [GRCh38]
Chr11:6636159 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.-22A>C single nucleotide variant not specified [RCV000604974] Chr11:6619422 [GRCh38]
Chr11:6640653 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.3(TPP1):c.-33C>T single nucleotide variant not specified [RCV000604530] Chr11:6619433 [GRCh38]
Chr11:6640664 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+6C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632680] Chr11:6616969 [GRCh38]
Chr11:6638200 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000632685]|not provided [RCV001338190] Chr11:6616016 [GRCh38]
Chr11:6637247 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000626244] Chr11:6615503 [GRCh38]
Chr11:6636734 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) duplication not provided [RCV000656241] Chr11:6614644..6614645 [GRCh38]
Chr11:6635875..6635876 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000672851] Chr11:6614596 [GRCh38]
Chr11:6635827 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000672940] Chr11:6616816 [GRCh38]
Chr11:6638047 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-8_887-6del deletion not provided [RCV000675459] Chr11:6616509..6616511 [GRCh38]
Chr11:6637740..6637742 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.887-9_887-6del deletion not provided [RCV000675460] Chr11:6616509..6616512 [GRCh38]
Chr11:6637740..6637743 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1449del (p.Ile484fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000673108] Chr11:6614968 [GRCh38]
Chr11:6636199 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.772G>T (p.Ala258Ser) single nucleotide variant not provided [RCV000685138] Chr11:6616775 [GRCh38]
Chr11:6638006 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1267-56_1267-37del deletion Ceroid lipofuscinosis neuronal 2 [RCV000671649] Chr11:6615366..6615385 [GRCh38]
Chr11:6636597..6636616 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.225A>G (p.Gln75=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000668623]|not provided [RCV001215564] Chr11:6618780 [GRCh38]
Chr11:6640011 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.17+1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000668665] Chr11:6619383 [GRCh38]
Chr11:6640614 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) deletion Ceroid lipofuscinosis neuronal 2 [RCV000668676]|not provided [RCV001388426] Chr11:6614869..6614870 [GRCh38]
Chr11:6636100..6636101 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000391.4(TPP1):c.1098G>A (p.Trp366Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000680130] Chr11:6616052 [GRCh38]
Chr11:6637283 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000673142] Chr11:6615203..6615204 [GRCh38]
Chr11:6636434..6636435 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.689del (p.Phe230fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000677174] Chr11:6616858 [GRCh38]
Chr11:6638089 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.184del (p.Ser62fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000677192] Chr11:6618821 [GRCh38]
Chr11:6640052 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) microsatellite Ceroid lipofuscinosis neuronal 2 [RCV000667218]|Neuronal ceroid lipofuscinosis [RCV000988486] Chr11:6618820..6618821 [GRCh38]
Chr11:6640050..6640052 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1076-2A>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000670860]|not provided [RCV001379972] Chr11:6616076 [GRCh38]
Chr11:6637307 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.357dup (p.Leu120fs) duplication Ceroid lipofuscinosis neuronal 2 [RCV000670223]|not provided [RCV001385878] Chr11:6617648..6617649 [GRCh38]
Chr11:6638879..6638880 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1208T>C (p.Ile403Thr) single nucleotide variant not provided [RCV000703789] Chr11:6615500 [GRCh38]
Chr11:6636731 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1076-2A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000667649]|not provided [RCV001379383] Chr11:6616076 [GRCh38]
Chr11:6637307 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000667845] Chr11:6616714 [GRCh38]
Chr11:6637945 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1266+28G>A single nucleotide variant not provided [RCV000675454] Chr11:6615414 [GRCh38]
Chr11:6636645 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.509-25C>T single nucleotide variant not provided [RCV000675462] Chr11:6617178 [GRCh38]
Chr11:6638409 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1076-1G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000666279]|not provided [RCV001208874] Chr11:6616075 [GRCh38]
Chr11:6637306 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV000668227] Chr11:6614617..6614627 [GRCh38]
Chr11:6635848..6635858 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000668234]|not provided [RCV001058281] Chr11:6616342 [GRCh38]
Chr11:6637573 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.508+2dup duplication Ceroid lipofuscinosis neuronal 2 [RCV000668261] Chr11:6617298..6617299 [GRCh38]
Chr11:6638529..6638530 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) duplication Ceroid lipofuscinosis neuronal 2 [RCV000665414] Chr11:6617386..6617387 [GRCh38]
Chr11:6638617..6638618 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1551+1G>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000674411] Chr11:6614865 [GRCh38]
Chr11:6636096 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000666347]|Neuronal ceroid lipofuscinosis [RCV001526988]|not provided [RCV001386654] Chr11:6614892 [GRCh38]
Chr11:6636123 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1146-24C>A single nucleotide variant not provided [RCV000675455] Chr11:6615586 [GRCh38]
Chr11:6636817 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1075+28T>C single nucleotide variant not provided [RCV000675456] Chr11:6616287 [GRCh38]
Chr11:6637518 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.508+26T>A single nucleotide variant not provided [RCV000675463] Chr11:6617275 [GRCh38]
Chr11:6638506 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) deletion Ceroid lipofuscinosis neuronal 2 [RCV000665954] Chr11:6615228..6615229 [GRCh38]
Chr11:6636459..6636460 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000678756] Chr11:6617769 [GRCh38]
Chr11:6639000 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1
pathogenic
NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000687664]|not provided [RCV001367894] Chr11:6614625 [GRCh38]
Chr11:6635856 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys) single nucleotide variant not provided [RCV000699528] Chr11:6616027 [GRCh38]
Chr11:6637258 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000709849]|not provided [RCV001313824] Chr11:6616488 [GRCh38]
Chr11:6637719 [GRCh37]
Chr11:11p15.4
uncertain significance|not provided
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000694511] Chr11:6616772 [GRCh38]
Chr11:6638003 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274538]|Neuronal ceroid lipofuscinosis [RCV000698754]|Seizures [RCV000716948]|not provided [RCV000731066] Chr11:6615456 [GRCh38]
Chr11:6636687 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.734G>A (p.Arg245His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104753]|not provided [RCV000688974] Chr11:6616813 [GRCh38]
Chr11:6638044 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.812T>C (p.Ile271Thr) single nucleotide variant not provided [RCV000691253] Chr11:6616735 [GRCh38]
Chr11:6637966 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1512C>T (p.Asn504=) single nucleotide variant Seizures [RCV000717785] Chr11:6614905 [GRCh38]
Chr11:6636136 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.816G>A (p.Glu272=) single nucleotide variant Seizures [RCV000718372]|not provided [RCV001410199] Chr11:6616731 [GRCh38]
Chr11:6637962 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.465T>C (p.His155=) single nucleotide variant Seizures [RCV000718419]|not provided [RCV001486062] Chr11:6617344 [GRCh38]
Chr11:6638575 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) single nucleotide variant Seizures [RCV000720660] Chr11:6615296 [GRCh38]
Chr11:6636527 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) single nucleotide variant Seizures [RCV000720587]|not provided [RCV001242833] Chr11:6618883 [GRCh38]
Chr11:6640114 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274544]|Seizures [RCV000720854] Chr11:6617722 [GRCh38]
Chr11:6638953 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV000758017] Chr11:6616070 [GRCh38]
Chr11:6637301 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) single nucleotide variant not provided [RCV001065769] Chr11:6617328 [GRCh38]
Chr11:6638559 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.124G>T (p.Asp42Tyr) single nucleotide variant not provided [RCV001067248] Chr11:6618881 [GRCh38]
Chr11:6640112 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.885T>C (p.Pro295=) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001067384] Chr11:6616662 [GRCh38]
Chr11:6637893 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.941_942del (p.Glu314fs) deletion not provided [RCV001067930] Chr11:6616448..6616449 [GRCh38]
Chr11:6637679..6637680 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.135A>G (p.Glu45=) single nucleotide variant not provided [RCV000865276] Chr11:6618870 [GRCh38]
Chr11:6640101 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.972C>T (p.Ser324=) single nucleotide variant not provided [RCV000982539] Chr11:6616418 [GRCh38]
Chr11:6637649 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.510G>T (p.Val170=) single nucleotide variant not provided [RCV000882440] Chr11:6617152 [GRCh38]
Chr11:6638383 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.573A>T (p.Thr191=) single nucleotide variant not provided [RCV000981931] Chr11:6617089 [GRCh38]
Chr11:6638320 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+8T>C single nucleotide variant not provided [RCV000866463] Chr11:6614858 [GRCh38]
Chr11:6636089 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.438G>A (p.Thr146=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274541]|not provided [RCV000868373] Chr11:6617371 [GRCh38]
Chr11:6638602 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.1020C>G (p.Val340=) single nucleotide variant not provided [RCV000980865] Chr11:6616370 [GRCh38]
Chr11:6637601 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.648G>A (p.Val216=) single nucleotide variant not provided [RCV000982583] Chr11:6617014 [GRCh38]
Chr11:6638245 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1140C>T (p.Ala380=) single nucleotide variant not provided [RCV000981059] Chr11:6616010 [GRCh38]
Chr11:6637241 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-10C>T single nucleotide variant not provided [RCV000927839] Chr11:6616869 [GRCh38]
Chr11:6638100 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1131C>G (p.Thr377=) single nucleotide variant not provided [RCV000981309] Chr11:6616019 [GRCh38]
Chr11:6637250 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.333C>T (p.Cys111=) single nucleotide variant not provided [RCV000927276] Chr11:6617673 [GRCh38]
Chr11:6638904 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.6A>G (p.Gly2=) single nucleotide variant not provided [RCV000944267] Chr11:6619395 [GRCh38]
Chr11:6640626 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.918G>A (p.Gln306=) single nucleotide variant not provided [RCV000879651] Chr11:6616472 [GRCh38]
Chr11:6637703 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1563C>G (p.Gly521=) single nucleotide variant not provided [RCV000927922] Chr11:6614675 [GRCh38]
Chr11:6635906 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.249G>T (p.Glu83Asp) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001275127]|Neuronal ceroid lipofuscinosis [RCV001055252] Chr11:6617757 [GRCh38]
Chr11:6638988 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001062155] Chr11:6616321 [GRCh38]
Chr11:6637552 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001059092] Chr11:6616784 [GRCh38]
Chr11:6638015 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001068798] Chr11:6614551 [GRCh38]
Chr11:6635782 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.847G>A (p.Ala283Thr) single nucleotide variant not provided [RCV001051981] Chr11:6616700 [GRCh38]
Chr11:6637931 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Russell-Silver syndrome [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3
pathogenic
NM_000391.4(TPP1):c.1551+9G>A single nucleotide variant not provided [RCV000942610] Chr11:6614857 [GRCh38]
Chr11:6636088 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1449G>A (p.Gly483=) single nucleotide variant not provided [RCV000928262] Chr11:6614968 [GRCh38]
Chr11:6636199 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.636C>G (p.Thr212=) single nucleotide variant not provided [RCV000981930] Chr11:6617026 [GRCh38]
Chr11:6638257 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.858C>T (p.Asn286=) single nucleotide variant not provided [RCV000940505] Chr11:6616689 [GRCh38]
Chr11:6637920 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1068C>T (p.Phe356=) single nucleotide variant not provided [RCV000937097] Chr11:6616322 [GRCh38]
Chr11:6637553 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.996C>T (p.Leu332=) single nucleotide variant not provided [RCV000982524] Chr11:6616394 [GRCh38]
Chr11:6637625 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1065C>G (p.Leu355=) single nucleotide variant not provided [RCV000941336] Chr11:6616325 [GRCh38]
Chr11:6637556 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter) single nucleotide variant not provided [RCV000799250] Chr11:6617681 [GRCh38]
Chr11:6638912 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.688-18C>G single nucleotide variant not provided [RCV000839548] Chr11:6616877 [GRCh38]
Chr11:6638108 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-17C>T single nucleotide variant not provided [RCV000841809] Chr11:6616091 [GRCh38]
Chr11:6637322 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.6619522A>G single nucleotide variant not provided [RCV000832481] Chr11:6619522 [GRCh38]
Chr11:6640753 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000801237]|not provided [RCV001369652] Chr11:6615245 [GRCh38]
Chr11:6636476 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.746G>T (p.Gly249Val) single nucleotide variant not provided [RCV000819358] Chr11:6616801 [GRCh38]
Chr11:6638032 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr) single nucleotide variant not provided [RCV000821227] Chr11:6616005 [GRCh38]
Chr11:6637236 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1416C>T (p.Ser472=) single nucleotide variant not provided [RCV000869509] Chr11:6615180 [GRCh38]
Chr11:6636411 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs) microsatellite Neuronal ceroid lipofuscinosis [RCV000819442]|not provided [RCV001092691] Chr11:6614559..6614560 [GRCh38]
Chr11:6635790..6635791 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.437C>T (p.Thr146Met) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104755]|Neuronal ceroid lipofuscinosis [RCV000797890] Chr11:6617372 [GRCh38]
Chr11:6638603 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.956A>G (p.His319Arg) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000819824] Chr11:6616434 [GRCh38]
Chr11:6637665 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.6619449A>G single nucleotide variant not provided [RCV000828724] Chr11:6619449 [GRCh38]
Chr11:6640680 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.880A>T (p.Ser294Cys) single nucleotide variant not provided [RCV000994560] Chr11:6616667 [GRCh38]
Chr11:6637898 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1551+70C>T single nucleotide variant not provided [RCV000833774] Chr11:6614796 [GRCh38]
Chr11:6636027 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.90-12C>A single nucleotide variant not provided [RCV000840920] Chr11:6618927 [GRCh38]
Chr11:6640158 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.17+17G>A single nucleotide variant not provided [RCV000827443] Chr11:6619367 [GRCh38]
Chr11:6640598 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000792905] Chr11:6614680 [GRCh38]
Chr11:6635911 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.381-23G>T single nucleotide variant not provided [RCV000830081] Chr11:6617451 [GRCh38]
Chr11:6638682 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.90-44C>T single nucleotide variant not provided [RCV000833646] Chr11:6618959 [GRCh38]
Chr11:6640190 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-43C>T single nucleotide variant not provided [RCV000833647] Chr11:6616902 [GRCh38]
Chr11:6638133 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.119G>A (p.Arg40His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274546]|not provided [RCV000815647] Chr11:6618886 [GRCh38]
Chr11:6640117 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1146-107C>G single nucleotide variant not provided [RCV000834426] Chr11:6615669 [GRCh38]
Chr11:6636900 [GRCh37]
Chr11:11p15.4
benign
NC_000011.10:g.6616955G>A single nucleotide variant not provided [RCV000828258] Chr11:6638186 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.295G>C (p.Val99Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000813171]|not provided [RCV001343766] Chr11:6617711 [GRCh38]
Chr11:6638942 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.202G>A (p.Val68Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000804190] Chr11:6618803 [GRCh38]
Chr11:6640034 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) single nucleotide variant not provided [RCV000797713] Chr11:6618842 [GRCh38]
Chr11:6640073 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001273169]|not provided [RCV000811312] Chr11:6614679 [GRCh38]
Chr11:6635910 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.6617275A>T single nucleotide variant not provided [RCV000829851] Chr11:6638506 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1075+42C>T single nucleotide variant not provided [RCV000829899] Chr11:6616273 [GRCh38]
Chr11:6637504 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.859A>G (p.Ile287Val) single nucleotide variant not provided [RCV000994562] Chr11:6616688 [GRCh38]
Chr11:6637919 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.687+32T>C single nucleotide variant not provided [RCV000830089] Chr11:6616943 [GRCh38]
Chr11:6638174 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.89C>A (p.Thr30Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000808838] Chr11:6619196 [GRCh38]
Chr11:6640427 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000808965]|not provided [RCV001295379] Chr11:6617090 [GRCh38]
Chr11:6638321 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.209A>G (p.Asp70Gly) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001329232]|Neuronal ceroid lipofuscinosis [RCV000812383] Chr11:6618796 [GRCh38]
Chr11:6640027 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1554A>T (p.Val518=) single nucleotide variant not provided [RCV000939526] Chr11:6614684 [GRCh38]
Chr11:6635915 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-45G>A single nucleotide variant not provided [RCV000833773] Chr11:6616904 [GRCh38]
Chr11:6638135 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.508+31G>A single nucleotide variant not provided [RCV000833799] Chr11:6617270 [GRCh38]
Chr11:6638501 [GRCh37]
Chr11:11p15.4
benign
NC_000011.10:g.6619638A>G single nucleotide variant not provided [RCV000829389] Chr11:6619638 [GRCh38]
Chr11:6640869 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1552-4del deletion Neuronal ceroid lipofuscinosis [RCV000816235]|not provided [RCV001369688] Chr11:6614690 [GRCh38]
Chr11:6635921 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) single nucleotide variant not provided [RCV000804021] Chr11:6616765 [GRCh38]
Chr11:6637996 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.694G>A (p.Glu232Lys) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000800986]|not provided [RCV001338549] Chr11:6616853 [GRCh38]
Chr11:6638084 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.17G>C (p.Cys6Ser) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000795470]|not provided [RCV001371478] Chr11:6619384 [GRCh38]
Chr11:6640615 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.687+1G>C single nucleotide variant Neuronal ceroid lipofuscinosis [RCV000988483] Chr11:6616974 [GRCh38]
Chr11:6638205 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.4(chr11:5896551-6719852)x3 copy number gain not provided [RCV000849971] Chr11:5896551..6719852 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.26G>T (p.Gly9Val) single nucleotide variant not provided [RCV001065803] Chr11:6619259 [GRCh38]
Chr11:6640490 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs) indel Neuronal ceroid lipofuscinosis [RCV001242500] Chr11:6615188..6615199 [GRCh38]
Chr11:6636419..6636430 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.446A>G (p.His149Arg) single nucleotide variant not provided [RCV001205076] Chr11:6617363 [GRCh38]
Chr11:6638594 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1669C>A (p.Leu557Met) single nucleotide variant not provided [RCV001209429] Chr11:6614569 [GRCh38]
Chr11:6635800 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) single nucleotide variant not provided [RCV001217456] Chr11:6616387 [GRCh38]
Chr11:6637618 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1049G>C (p.Arg350Pro) single nucleotide variant not provided [RCV001237545] Chr11:6616341 [GRCh38]
Chr11:6637572 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1266+4C>T single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001221188] Chr11:6615438 [GRCh38]
Chr11:6636669 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.230-8C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241401] Chr11:6617784 [GRCh38]
Chr11:6639015 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509-8C>A single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001225112] Chr11:6617161 [GRCh38]
Chr11:6638392 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.90-2A>T single nucleotide variant not provided [RCV001227177] Chr11:6618917 [GRCh38]
Chr11:6640148 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1228G>A (p.Gly410Ser) single nucleotide variant not provided [RCV001227190] Chr11:6615480 [GRCh38]
Chr11:6636711 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1034T>C (p.Met345Thr) single nucleotide variant not provided [RCV001227343] Chr11:6616356 [GRCh38]
Chr11:6637587 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+2T>C single nucleotide variant not provided [RCV001239840] Chr11:6616313 [GRCh38]
Chr11:6637544 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1099T>C (p.Ser367Pro) single nucleotide variant not provided [RCV001224372] Chr11:6616051 [GRCh38]
Chr11:6637282 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.90-3C>T single nucleotide variant not provided [RCV001225928] Chr11:6618918 [GRCh38]
Chr11:6640149 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.770T>C (p.Val257Ala) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278540]|Neuronal ceroid lipofuscinosis [RCV001225570] Chr11:6616777 [GRCh38]
Chr11:6638008 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+5C>T single nucleotide variant not provided [RCV001248399] Chr11:6616310 [GRCh38]
Chr11:6637541 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:6607967-6796286)x3 copy number gain not provided [RCV000846249] Chr11:6607967..6796286 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1741G>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107301] Chr11:6612805 [GRCh38]
Chr11:6634036 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*984T>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104640] Chr11:6613562 [GRCh38]
Chr11:6634793 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*829C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104642] Chr11:6613717 [GRCh38]
Chr11:6634948 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*346A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104645] Chr11:6614200 [GRCh38]
Chr11:6635431 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.199G>C (p.Ala67Pro) single nucleotide variant not provided [RCV001211850] Chr11:6618806 [GRCh38]
Chr11:6640037 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1282C>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102723] Chr11:6613264 [GRCh38]
Chr11:6634495 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509-4A>G single nucleotide variant not provided [RCV000918958] Chr11:6617157 [GRCh38]
Chr11:6638388 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.894T>C (p.His298=) single nucleotide variant not provided [RCV000930918] Chr11:6616496 [GRCh38]
Chr11:6637727 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1536G>A (p.Gly512=) single nucleotide variant not provided [RCV000933322] Chr11:6614881 [GRCh38]
Chr11:6636112 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1267-9G>C single nucleotide variant not provided [RCV000928864] Chr11:6615338 [GRCh38]
Chr11:6636569 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1426-1G>A single nucleotide variant not provided [RCV001221954] Chr11:6614992 [GRCh38]
Chr11:6636223 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.800G>A (p.Gly267Asp) single nucleotide variant not provided [RCV001203463] Chr11:6616747 [GRCh38]
Chr11:6637978 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs) indel Neuronal ceroid lipofuscinosis [RCV001244682] Chr11:6616063 [GRCh38]
Chr11:6637294 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) single nucleotide variant not provided [RCV001243103] Chr11:6616501 [GRCh38]
Chr11:6637732 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*124C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107388] Chr11:6614422 [GRCh38]
Chr11:6635653 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1552-14A>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107390] Chr11:6614700 [GRCh38]
Chr11:6635931 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) single nucleotide variant Seizures [RCV001263299]|not provided [RCV001208281] Chr11:6615223 [GRCh38]
Chr11:6636454 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1508G>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107957] Chr11:6613038 [GRCh38]
Chr11:6634269 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.965C>T (p.Thr322Ile) single nucleotide variant not provided [RCV001245345] Chr11:6616425 [GRCh38]
Chr11:6637656 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.563C>T (p.Pro188Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001045126] Chr11:6617099 [GRCh38]
Chr11:6638330 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.881G>A (p.Ser294Asn) single nucleotide variant not provided [RCV001209550] Chr11:6616666 [GRCh38]
Chr11:6637897 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr) single nucleotide variant not provided [RCV001217661] Chr11:6614575 [GRCh38]
Chr11:6635806 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.11A>T (p.Gln4Leu) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001241469] Chr11:6619390 [GRCh38]
Chr11:6640621 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.381-7C>T single nucleotide variant not provided [RCV000935418] Chr11:6617435 [GRCh38]
Chr11:6638666 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.879T>G (p.Ser293Arg) single nucleotide variant not provided [RCV000994561] Chr11:6616668 [GRCh38]
Chr11:6637899 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
NM_000391.4(TPP1):c.*1250T>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102724] Chr11:6613296 [GRCh38]
Chr11:6634527 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.993C>T (p.Ser331=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102829]|not provided [RCV001433985] Chr11:6616397 [GRCh38]
Chr11:6637628 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*241T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001103405] Chr11:6614305 [GRCh38]
Chr11:6635536 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.89+1G>A single nucleotide variant Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [RCV001252370] Chr11:6619195 [GRCh38]
Chr11:6640426 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.*716C>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104643] Chr11:6613830 [GRCh38]
Chr11:6635061 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*704C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104644] Chr11:6613842 [GRCh38]
Chr11:6635073 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1425G>A (p.Ser475=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001027809]|Neuronal ceroid lipofuscinosis [RCV001041843] Chr11:6615171 [GRCh38]
Chr11:6636402 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001050803] Chr11:6614656 [GRCh38]
Chr11:6635887 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile) single nucleotide variant not provided [RCV001092693] Chr11:6619220 [GRCh38]
Chr11:6640451 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) single nucleotide variant not provided [RCV001068034] Chr11:6617683 [GRCh38]
Chr11:6638914 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1560C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107955] Chr11:6612986 [GRCh38]
Chr11:6634217 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) single nucleotide variant not provided [RCV001092692] Chr11:6614978 [GRCh38]
Chr11:6636209 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.*1108T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001102725] Chr11:6613438 [GRCh38]
Chr11:6634669 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*223T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107386] Chr11:6614323 [GRCh38]
Chr11:6635554 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*171T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107387] Chr11:6614375 [GRCh38]
Chr11:6635606 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145+3A>G single nucleotide variant Neuronal ceroid lipofuscinosis [RCV001047426] Chr11:6616002 [GRCh38]
Chr11:6637233 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) deletion Neuronal ceroid lipofuscinosis [RCV001049580] Chr11:6615484..6615486 [GRCh38]
Chr11:6636715..6636717 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) single nucleotide variant not provided [RCV001047837] Chr11:6619232 [GRCh38]
Chr11:6640463 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.475C>T (p.Leu159Phe) single nucleotide variant not provided [RCV001048224] Chr11:6617334 [GRCh38]
Chr11:6638565 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.542C>A (p.Ser181Tyr) single nucleotide variant not provided [RCV001048971] Chr11:6617120 [GRCh38]
Chr11:6638351 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.761A>G (p.Gln254Arg) single nucleotide variant not provided [RCV001206008] Chr11:6616786 [GRCh38]
Chr11:6638017 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.294G>A (p.Thr98=) single nucleotide variant not provided [RCV001219810] Chr11:6617712 [GRCh38]
Chr11:6638943 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1267-2A>G single nucleotide variant not provided [RCV001057360] Chr11:6615331 [GRCh38]
Chr11:6636562 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.100G>A (p.Gly34Ser) single nucleotide variant not provided [RCV001216341] Chr11:6618905 [GRCh38]
Chr11:6640136 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.535A>T (p.Thr179Ser) single nucleotide variant not provided [RCV001208515] Chr11:6617127 [GRCh38]
Chr11:6638358 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser) single nucleotide variant not provided [RCV001233991] Chr11:6614578 [GRCh38]
Chr11:6635809 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1034T>G (p.Met345Arg) single nucleotide variant not provided [RCV001234140] Chr11:6616356 [GRCh38]
Chr11:6637587 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*937C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001104641] Chr11:6613609 [GRCh38]
Chr11:6634840 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1186C>G (p.Pro396Ala) single nucleotide variant not provided [RCV001248103] Chr11:6615522 [GRCh38]
Chr11:6636753 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.376_380+6del deletion not provided [RCV001235198] Chr11:6617620..6617630 [GRCh38]
Chr11:6638851..6638861 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.778G>C (p.Val260Leu) single nucleotide variant not provided [RCV001206968] Chr11:6616769 [GRCh38]
Chr11:6638000 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.679T>C (p.Cys227Arg) single nucleotide variant not provided [RCV001070527] Chr11:6616983 [GRCh38]
Chr11:6638214 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys) single nucleotide variant not provided [RCV001234145] Chr11:6616008 [GRCh38]
Chr11:6637239 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu) single nucleotide variant not provided [RCV001248199] Chr11:6614974 [GRCh38]
Chr11:6636205 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1540T>C single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107956] Chr11:6613006 [GRCh38]
Chr11:6634237 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1478T>A single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001107958] Chr11:6613068 [GRCh38]
Chr11:6634299 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.313G>T (p.Ala105Ser) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001274543]|not provided [RCV001037242] Chr11:6617693 [GRCh38]
Chr11:6638924 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1181A>T (p.Gln394Leu) single nucleotide variant not provided [RCV001229583] Chr11:6615527 [GRCh38]
Chr11:6636758 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.533del (p.Pro178fs) deletion Ceroid lipofuscinosis neuronal 2 [RCV001250747] Chr11:6617129 [GRCh38]
Chr11:6638360 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Russell-Silver syndrome [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.807C>T (p.Ala269=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278539]|not provided [RCV001411311] Chr11:6616740 [GRCh38]
Chr11:6637971 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.843G>A (p.Met281Ile) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001262372] Chr11:6616704 [GRCh38]
Chr11:6637935 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.420C>A (p.His140Gln) single nucleotide variant not provided [RCV001341906] Chr11:6617389 [GRCh38]
Chr11:6638620 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.772_773delinsTA (p.Ala258Tyr) indel not provided [RCV001301082] Chr11:6616774..6616775 [GRCh38]
Chr11:6638005..6638006 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1483A>C (p.Ser495Arg) single nucleotide variant not provided [RCV001339557] Chr11:6614934 [GRCh38]
Chr11:6636165 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.274T>C (p.Ser92Pro) single nucleotide variant not provided [RCV001339594] Chr11:6617732 [GRCh38]
Chr11:6638963 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1381G>T (p.Val461Leu) single nucleotide variant not provided [RCV001340463] Chr11:6615215 [GRCh38]
Chr11:6636446 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.241A>G (p.Thr81Ala) single nucleotide variant not provided [RCV001315563] Chr11:6617765 [GRCh38]
Chr11:6638996 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.272C>T (p.Pro91Leu) single nucleotide variant not provided [RCV001306669] Chr11:6617734 [GRCh38]
Chr11:6638965 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.79C>G (p.Gln27Glu) single nucleotide variant not provided [RCV001304425] Chr11:6619206 [GRCh38]
Chr11:6640437 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.94C>T (p.Pro32Ser) single nucleotide variant not provided [RCV001306054] Chr11:6618911 [GRCh38]
Chr11:6640142 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.593T>C (p.Leu198Pro) single nucleotide variant not provided [RCV001309247] Chr11:6617069 [GRCh38]
Chr11:6638300 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1162G>A (p.Val388Met) single nucleotide variant not provided [RCV001313720] Chr11:6615546 [GRCh38]
Chr11:6636777 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.925A>T (p.Met309Leu) single nucleotide variant not provided [RCV001319483] Chr11:6616465 [GRCh38]
Chr11:6637696 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.886+5del deletion not provided [RCV001315591] Chr11:6616656 [GRCh38]
Chr11:6637887 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.548G>A (p.Arg183Lys) single nucleotide variant not provided [RCV001316640] Chr11:6617114 [GRCh38]
Chr11:6638345 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.97C>T (p.Pro33Ser) single nucleotide variant not provided [RCV001305768] Chr11:6618908 [GRCh38]
Chr11:6640139 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.9:g.(?_5709028)_(6640651_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032559]|not provided [RCV001327815] Chr11:5709028..6640651 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1643G>A (p.Trp548Ter) single nucleotide variant not provided [RCV001359304] Chr11:6614595 [GRCh38]
Chr11:6635826 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.84G>A (p.Arg28=) single nucleotide variant not provided [RCV001392444] Chr11:6619201 [GRCh38]
Chr11:6640432 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.220C>T (p.Pro74Ser) single nucleotide variant not provided [RCV001343703] Chr11:6618785 [GRCh38]
Chr11:6640016 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.968T>C (p.Val323Ala) single nucleotide variant not provided [RCV001364966] Chr11:6616422 [GRCh38]
Chr11:6637653 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.742G>A (p.Gly248Ser) single nucleotide variant not provided [RCV001327378] Chr11:6616805 [GRCh38]
Chr11:6638036 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.88A>G (p.Thr30Ala) single nucleotide variant not provided [RCV001298032] Chr11:6619197 [GRCh38]
Chr11:6640428 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.917A>T (p.Gln306Leu) single nucleotide variant not provided [RCV001372078] Chr11:6616473 [GRCh38]
Chr11:6637704 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.898G>A (p.Gly300Arg) single nucleotide variant not provided [RCV001352218] Chr11:6616492 [GRCh38]
Chr11:6637723 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1434T>C (p.Thr478=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278537] Chr11:6614983 [GRCh38]
Chr11:6636214 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.508+10A>G single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278543]|not provided [RCV001482018] Chr11:6617291 [GRCh38]
Chr11:6638522 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.51C>G (p.Gly17=) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278544]|not provided [RCV001491337] Chr11:6619234 [GRCh38]
Chr11:6640465 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.145C>G (p.Leu49Val) single nucleotide variant not provided [RCV001369183] Chr11:6618860 [GRCh38]
Chr11:6640091 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001291790] Chr11:6616796 [GRCh38]
Chr11:6638027 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) single nucleotide variant not provided [RCV001294982] Chr11:6616744 [GRCh38]
Chr11:6637975 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.145C>T (p.Leu49Phe) single nucleotide variant not provided [RCV001307160] Chr11:6618860 [GRCh38]
Chr11:6640091 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.82C>T (p.Arg28Trp) single nucleotide variant not provided [RCV001339348] Chr11:6619203 [GRCh38]
Chr11:6640434 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.76G>A (p.Asp26Asn) single nucleotide variant not provided [RCV001298788] Chr11:6619209 [GRCh38]
Chr11:6640440 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1035G>A (p.Met345Ile) single nucleotide variant not provided [RCV001349661] Chr11:6616355 [GRCh38]
Chr11:6637586 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.735C>T (p.Arg245=) single nucleotide variant not provided [RCV001421494] Chr11:6616812 [GRCh38]
Chr11:6638043 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.97C>A (p.Pro33Thr) single nucleotide variant not provided [RCV001350473] Chr11:6618908 [GRCh38]
Chr11:6640139 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1146-5C>T single nucleotide variant not provided [RCV001395468] Chr11:6615567 [GRCh38]
Chr11:6636798 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1467T>A (p.Asn489Lys) single nucleotide variant not provided [RCV001340312] Chr11:6614950 [GRCh38]
Chr11:6636181 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.80_81delinsTT (p.Gln27Leu) indel not provided [RCV001306579] Chr11:6619204..6619205 [GRCh38]
Chr11:6640435..6640436 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr) single nucleotide variant not provided [RCV001296391] Chr11:6616398 [GRCh38]
Chr11:6637629 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+10T>C single nucleotide variant not provided [RCV001394917] Chr11:6616305 [GRCh38]
Chr11:6637536 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys) single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278536] Chr11:6614668 [GRCh38]
Chr11:6635899 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-7C>T single nucleotide variant Ceroid lipofuscinosis neuronal 2 [RCV001278547] Chr11:6619274 [GRCh38]
Chr11:6640505 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1017G>T (p.Arg339=) single nucleotide variant not provided [RCV001421433] Chr11:6616373 [GRCh38]
Chr11:6637604 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1634T>C (p.Val545Ala) single nucleotide variant not provided [RCV001297746] Chr11:6614604 [GRCh38]
Chr11:6635835 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr) single nucleotide variant not provided [RCV001359219] Chr11:6614922 [GRCh38]
Chr11:6636153 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.426G>T (p.Val142=) single nucleotide variant not provided [RCV001395230] Chr11:6617383 [GRCh38]
Chr11:6638614 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.378C>A (p.Ile126=) single nucleotide variant not provided [RCV001395565] Chr11:6617628 [GRCh38]
Chr11:6638859 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1662A>G (p.Pro554=) single nucleotide variant not provided [RCV001492140] Chr11:6614576 [GRCh38]
Chr11:6635807 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.390G>A (p.Glu130=) single nucleotide variant not provided [RCV001499022] Chr11:6617419 [GRCh38]
Chr11:6638650 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.38_68del (p.Leu13fs) deletion not provided [RCV001380118] Chr11:6619217..6619247 [GRCh38]
Chr11:6640448..6640478 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1398G>A (p.Val466=) single nucleotide variant not provided [RCV001469937] Chr11:6615198 [GRCh38]
Chr11:6636429 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.264G>T (p.Leu88=) single nucleotide variant not provided [RCV001468276] Chr11:6617742 [GRCh38]
Chr11:6638973 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.447T>C (p.His149=) single nucleotide variant not provided [RCV001502978] Chr11:6617362 [GRCh38]
Chr11:6638593 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.111C>T (p.Ser37=) single nucleotide variant not provided [RCV001436217] Chr11:6618894 [GRCh38]
Chr11:6640125 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1503C>A (p.Gly501=) single nucleotide variant not provided [RCV001483243] Chr11:6614914 [GRCh38]
Chr11:6636145 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-7C>T single nucleotide variant not provided [RCV001458046] Chr11:6617783 [GRCh38]
Chr11:6639014 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1005C>T (p.Ala335=) single nucleotide variant not provided [RCV001486392] Chr11:6616385 [GRCh38]
Chr11:6637616 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1143C>T (p.Ser381=) single nucleotide variant not provided [RCV001442029] Chr11:6616007 [GRCh38]
Chr11:6637238 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.801C>T (p.Gly267=) single nucleotide variant not provided [RCV001431234] Chr11:6616746 [GRCh38]
Chr11:6637977 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.381-20C>T single nucleotide variant not provided [RCV001471816] Chr11:6617448 [GRCh38]
Chr11:6638679 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.650G>T (p.Gly217Val) single nucleotide variant not provided [RCV001379247] Chr11:6617012 [GRCh38]
Chr11:6638243 [GRCh37]
Chr11:11p15.4
likely pathogenic
NC_000011.9:g.(?_6559613)_(6640631_?)del deletion not provided [RCV001386249] Chr11:6559613..6640631 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.509-10C>T single nucleotide variant not provided [RCV001398188] Chr11:6617163 [GRCh38]
Chr11:6638394 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.18-4A>G single nucleotide variant not provided [RCV001434784] Chr11:6619271 [GRCh38]
Chr11:6640502 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1053T>C (p.Gly351=) single nucleotide variant not provided [RCV001416150] Chr11:6616337 [GRCh38]
Chr11:6637568 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.624A>T (p.Arg208=) single nucleotide variant not provided [RCV001483830] Chr11:6617038 [GRCh38]
Chr11:6638269 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.171T>C (p.Asn57=) single nucleotide variant not provided [RCV001488267] Chr11:6618834 [GRCh38]
Chr11:6640065 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.969G>A (p.Val323=) single nucleotide variant not provided [RCV001484960] Chr11:6616421 [GRCh38]
Chr11:6637652 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-8T>C single nucleotide variant not provided [RCV001471255] Chr11:6616082 [GRCh38]
Chr11:6637313 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887-6A>C single nucleotide variant not provided [RCV001393804] Chr11:6616509 [GRCh38]
Chr11:6637740 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1218T>A (p.Tyr406Ter) single nucleotide variant not provided [RCV001386078] Chr11:6615490 [GRCh38]
Chr11:6636721 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1041T>C (p.Ala347=) single nucleotide variant not provided [RCV001409819] Chr11:6616349 [GRCh38]
Chr11:6637580 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.408del (p.Glu137fs) deletion not provided [RCV001388355] Chr11:6617401 [GRCh38]
Chr11:6638632 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.89+10C>G single nucleotide variant not provided [RCV001399581] Chr11:6619186 [GRCh38]
Chr11:6640417 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.147C>T (p.Leu49=) single nucleotide variant not provided [RCV001410529] Chr11:6618858 [GRCh38]
Chr11:6640089 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1206A>G (p.Glu402=) single nucleotide variant not provided [RCV001410548] Chr11:6615502 [GRCh38]
Chr11:6636733 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1302C>T (p.Pro434=) single nucleotide variant not provided [RCV001403644] Chr11:6615294 [GRCh38]
Chr11:6636525 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.930G>C (p.Leu310=) single nucleotide variant not provided [RCV001444370] Chr11:6616460 [GRCh38]
Chr11:6637691 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.489G>A (p.Leu163=) single nucleotide variant not provided [RCV001405818] Chr11:6617320 [GRCh38]
Chr11:6638551 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-9C>T single nucleotide variant not provided [RCV001423922] Chr11:6616868 [GRCh38]
Chr11:6638099 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.617G>C (p.Arg206Pro) single nucleotide variant not provided [RCV001379665] Chr11:6617045 [GRCh38]
Chr11:6638276 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.18-6C>T single nucleotide variant not provided [RCV001427029] Chr11:6619273 [GRCh38]
Chr11:6640504 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.747C>G (p.Gly249=) single nucleotide variant not provided [RCV001405676] Chr11:6616800 [GRCh38]
Chr11:6638031 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1533T>C (p.His511=) single nucleotide variant not provided [RCV001408155] Chr11:6614884 [GRCh38]
Chr11:6636115 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.186G>A (p.Ser62=) single nucleotide variant not provided [RCV001423968] Chr11:6618819 [GRCh38]
Chr11:6640050 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1323C>T (p.Tyr441=) single nucleotide variant not provided [RCV001408281] Chr11:6615273 [GRCh38]
Chr11:6636504 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.999C>T (p.Ser333=) single nucleotide variant not provided [RCV001431712] Chr11:6616391 [GRCh38]
Chr11:6637622 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.891G>T (p.Arg297=) single nucleotide variant not provided [RCV001411103] Chr11:6616499 [GRCh38]
Chr11:6637730 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn) single nucleotide variant not provided [RCV001438011] Chr11:6619231 [GRCh38]
Chr11:6640462 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.975T>C (p.Tyr325=) single nucleotide variant not provided [RCV001411148] Chr11:6616415 [GRCh38]
Chr11:6637646 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1299C>T (p.Ser433=) single nucleotide variant not provided [RCV001429530] Chr11:6615297 [GRCh38]
Chr11:6636528 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.429A>G (p.Gly143=) single nucleotide variant not provided [RCV001445568] Chr11:6617380 [GRCh38]
Chr11:6638611 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1494C>G (p.Pro498=) single nucleotide variant not provided [RCV001411423] Chr11:6614923 [GRCh38]
Chr11:6636154 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-2A>G single nucleotide variant not provided [RCV001390988] Chr11:6617155 [GRCh38]
Chr11:6638386 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.126C>T (p.Asp42=) single nucleotide variant not provided [RCV001436889] Chr11:6618879 [GRCh38]
Chr11:6640110 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-6C>T single nucleotide variant not provided [RCV001408946] Chr11:6617159 [GRCh38]
Chr11:6638390 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1683C>T (p.Leu561=) single nucleotide variant not provided [RCV001411576] Chr11:6614555 [GRCh38]
Chr11:6635786 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.768A>G (p.Ser256=) single nucleotide variant not provided [RCV001485504] Chr11:6616779 [GRCh38]
Chr11:6638010 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.951G>C (p.Leu317=) single nucleotide variant not provided [RCV001461107] Chr11:6616439 [GRCh38]
Chr11:6637670 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.552A>G (p.Gln184=) single nucleotide variant not provided [RCV001501936] Chr11:6617110 [GRCh38]
Chr11:6638341 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1225G>A (p.Gly409Ser) single nucleotide variant not provided [RCV001509399] Chr11:6615483 [GRCh38]
Chr11:6636714 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1218T>C (p.Tyr406=) single nucleotide variant not provided [RCV001457948] Chr11:6615490 [GRCh38]
Chr11:6636721 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.606C>T (p.Pro202=) single nucleotide variant not provided [RCV001486160] Chr11:6617056 [GRCh38]
Chr11:6638287 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.204G>T (p.Val68=) single nucleotide variant not provided [RCV001490552] Chr11:6618801 [GRCh38]
Chr11:6640032 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1671G>A (p.Leu557=) single nucleotide variant not provided [RCV001490690] Chr11:6614567 [GRCh38]
Chr11:6635798 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.252T>C (p.Asn84=) single nucleotide variant not provided [RCV001473552] Chr11:6617754 [GRCh38]
Chr11:6638985 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.321A>G (p.Gly107=) single nucleotide variant not provided [RCV001479233] Chr11:6617685 [GRCh38]
Chr11:6638916 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.229+9T>G single nucleotide variant not provided [RCV001502996] Chr11:6618767 [GRCh38]
Chr11:6639998 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1426-6T>C single nucleotide variant not provided [RCV001451508] Chr11:6614997 [GRCh38]
Chr11:6636228 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1104C>T (p.Val368=) single nucleotide variant not provided [RCV001476143] Chr11:6616046 [GRCh38]
Chr11:6637277 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.519G>T (p.Leu173=) single nucleotide variant not provided [RCV001459236] Chr11:6617143 [GRCh38]
Chr11:6638374 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.93G>A (p.Leu31=) single nucleotide variant not provided [RCV001452017] Chr11:6618912 [GRCh38]
Chr11:6640143 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1092G>A (p.Gly364=) single nucleotide variant not provided [RCV001469577] Chr11:6616058 [GRCh38]
Chr11:6637289 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.309C>T (p.Leu103=) single nucleotide variant not provided [RCV001487369] Chr11:6617697 [GRCh38]
Chr11:6638928 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-13C>T single nucleotide variant not provided [RCV001460052] Chr11:6617166 [GRCh38]
Chr11:6638397 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.180A>G (p.Arg60=) single nucleotide variant not provided [RCV001399585] Chr11:6618825 [GRCh38]
Chr11:6640056 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.754_757del (p.Ala252fs) deletion not provided [RCV001387833] Chr11:6616790..6616793 [GRCh38]
Chr11:6638021..6638024 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.375C>T (p.Ser125=) single nucleotide variant not provided [RCV001481289] Chr11:6617631 [GRCh38]
Chr11:6638862 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.556C>T (p.Pro186Ser) single nucleotide variant not provided [RCV001509400] Chr11:6617106 [GRCh38]
Chr11:6638337 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.795C>T (p.Gly265=) single nucleotide variant not provided [RCV001417257] Chr11:6616752 [GRCh38]
Chr11:6637983 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-20C>T single nucleotide variant not provided [RCV001455550] Chr11:6617796 [GRCh38]
Chr11:6639027 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter) single nucleotide variant not provided [RCV001387036] Chr11:6614612 [GRCh38]
Chr11:6635843 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.549G>A (p.Arg183=) single nucleotide variant not provided [RCV001415660] Chr11:6617113 [GRCh38]
Chr11:6638344 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1026T>A (p.Thr342=) single nucleotide variant not provided [RCV001461315] Chr11:6616364 [GRCh38]
Chr11:6637595 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1254G>A (p.Arg418=) single nucleotide variant not provided [RCV001436459] Chr11:6615454 [GRCh38]
Chr11:6636685 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.120T>C (p.Arg40=) single nucleotide variant not provided [RCV001438251] Chr11:6618885 [GRCh38]
Chr11:6640116 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1323_1326del (p.Ser440_Tyr441insTer) deletion not provided [RCV001387413] Chr11:6615270..6615273 [GRCh38]
Chr11:6636501..6636504 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.657C>T (p.Gly219=) single nucleotide variant not provided [RCV001454444] Chr11:6617005 [GRCh38]
Chr11:6638236 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.987_989del (p.Glu329del) deletion Ceroid lipofuscinosis neuronal 2 [RCV001375971] Chr11:6616401..6616403 [GRCh38]
Chr11:6637632..6637634 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.930G>A (p.Leu310=) single nucleotide variant not provided [RCV001399551] Chr11:6616460 [GRCh38]
Chr11:6637691 [GRCh37]
Chr11:11p15.4
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2073 AgrOrtholog
COSMIC TPP1 COSMIC
Ensembl Genes ENSG00000166340 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000299427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000398136 UniProtKB/TrEMBL
  ENSP00000434647 UniProtKB/TrEMBL
  ENSP00000435001 UniProtKB/TrEMBL
  ENSP00000437066 UniProtKB/Swiss-Prot
  ENSP00000493574 UniProtKB/TrEMBL
  ENSP00000493657 UniProtKB/Swiss-Prot
  ENSP00000493706 UniProtKB/TrEMBL
  ENSP00000494085 UniProtKB/TrEMBL
  ENSP00000494165 UniProtKB/Swiss-Prot
  ENSP00000494324 UniProtKB/TrEMBL
  ENSP00000495058 UniProtKB/TrEMBL
  ENSP00000495558 UniProtKB/TrEMBL
  ENSP00000495849 UniProtKB/TrEMBL
  ENSP00000495893 UniProtKB/Swiss-Prot
  ENSP00000495895 UniProtKB/TrEMBL
  ENSP00000496133 UniProtKB/TrEMBL
  ENSP00000496372 UniProtKB/TrEMBL
Ensembl Transcript ENST00000299427 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000436873 UniProtKB/TrEMBL
  ENST00000528571 UniProtKB/TrEMBL
  ENST00000528657 UniProtKB/TrEMBL
  ENST00000531754 UniProtKB/TrEMBL
  ENST00000533371 UniProtKB/Swiss-Prot
  ENST00000642892 UniProtKB/Swiss-Prot
  ENST00000643342 UniProtKB/TrEMBL
  ENST00000643439 UniProtKB/TrEMBL
  ENST00000643516 UniProtKB/TrEMBL
  ENST00000644218 UniProtKB/TrEMBL
  ENST00000644683 UniProtKB/TrEMBL
  ENST00000644810 UniProtKB/TrEMBL
  ENST00000644933 UniProtKB/TrEMBL
  ENST00000645285 UniProtKB/TrEMBL
  ENST00000645620 UniProtKB/Swiss-Prot
  ENST00000647152 UniProtKB/Swiss-Prot
  ENST00000647209 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166340 GTEx
HGNC ID HGNC:2073 ENTREZGENE
Human Proteome Map TPP1 Human Proteome Map
InterPro Peptidase_S8/S53_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S8/S53_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S53_propep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sedolisin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1200 UniProtKB/Swiss-Prot
NCBI Gene 1200 ENTREZGENE
OMIM 204500 OMIM
  607998 OMIM
  609270 OMIM
Pfam Peptidase_S8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pro-kuma_activ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26600 PharmGKB
PROSITE SEDOLISIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Pro-kuma_activ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y6T9_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7I4_HUMAN UniProtKB/TrEMBL
  A0A2R8Y7U1_HUMAN UniProtKB/TrEMBL
  A0A2R8YCK4_HUMAN UniProtKB/TrEMBL
  A0A2R8YD45_HUMAN UniProtKB/TrEMBL
  A0A2R8YD72_HUMAN UniProtKB/TrEMBL
  A0A2R8YDY1_HUMAN UniProtKB/TrEMBL
  A0A2R8YE64_HUMAN UniProtKB/TrEMBL
  A0A2R8YGD1_HUMAN UniProtKB/TrEMBL
  D3DQU2_HUMAN UniProtKB/TrEMBL
  E7EV34_HUMAN UniProtKB/TrEMBL
  E9PME9_HUMAN UniProtKB/TrEMBL
  E9PPA4_HUMAN UniProtKB/TrEMBL
  O14773 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q53HT1 UniProtKB/Swiss-Prot
  Q5JAK6 UniProtKB/Swiss-Prot
  Q6UX56 UniProtKB/Swiss-Prot
  Q71JP6 UniProtKB/Swiss-Prot
  Q96C37 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 TPP1  tripeptidyl peptidase 1    tripeptidyl peptidase I  Symbol and/or name change 5135510 APPROVED
2011-08-16 TPP1  tripeptidyl peptidase I  TPP1  tripeptidyl peptidase I  Symbol and/or name change 5135510 APPROVED