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:2073
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 lysosome; membrane raft; and recycling endosome. Implicated in autosomal recessive spinocerebellar ataxia 7 and neuronal ceroid lipofuscinosis 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh38116,612,768 - 6,619,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,612,768 - 6,619,448 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,633,999 - 6,640,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,590,573 - 6,597,268 (-)NCBINCBI36Build 36hg18NCBI36
Celera116,753,063 - 6,759,757 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,292,929 - 6,299,623 (-)NCBIHuRef
CHM1_1116,632,898 - 6,639,593 (-)NCBICHM1_1
T2T-CHM13v2.0116,671,236 - 6,677,889 (-)NCBIT2T-CHM13v2.0
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)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
alpha,alpha-trehalose  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (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 B  (EXP)
bisphenol F  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenamidone  (ISO)
fipronil  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
fumonisin B1  (ISO)
gentamycin  (EXP,ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosomorpholine  (ISO)
nickel atom  (EXP)
ozone  (EXP)
p-chloromercuribenzoic acid  (EXP)
p-tert-Amylphenol  (ISO)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (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)
thioacetamide  (ISO)
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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal amplitude of flash visual evoked potentials  (IAGP)
Abnormal amplitude of pattern electroretinogram  (IAGP)
Abnormal astrocyte morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal nervous system electrophysiology  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal repetitive mannerisms  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of speech or vocalization  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Agenesis of corpus callosum  (IAGP)
Aggressive behavior  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the external ear  (IAGP)
Apnea  (IAGP)
Aspiration pneumonia  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Atonic seizure  (IAGP)
Atypical behavior  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Blindness  (IAGP)
Brain atrophy  (IAGP)
Brisk reflexes  (IAGP)
Broad-based gait  (IAGP)
Central sleep apnea  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral hypoplasia  (IAGP)
Childhood onset  (IAGP)
Chorea  (IAGP)
Clumsiness  (IAGP)
Cognitive impairment  (IAGP)
Corpus callosum atrophy  (IAGP)
Cortical myoclonus  (IAGP)
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Delayed ability to sit  (IAGP)
Delayed speech and language development  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Difficulty standing  (IAGP)
Difficulty walking  (IAGP)
Diffuse demyelination of the cerebral white matter  (IAGP)
Diplopia  (IAGP)
Disturbance of facial expression  (IAGP)
Dysarthria  (IAGP)
Dysmetria  (IAGP)
Dysmetric saccades  (IAGP)
Dysphagia  (IAGP)
Dystonia  (IAGP)
Early young adult onset  (IAGP)
EEG with burst suppression  (IAGP)
EEG with generalized slow activity  (IAGP)
EEG with generalized slow activity grade 4  (IAGP)
EEG with photoparoxysmal response  (IAGP)
EEG with series of focal spikes  (IAGP)
EEG with spike-wave complexes  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: neuropathic changes  (IAGP)
Emotional lability  (IAGP)
Episodic tachypnea  (IAGP)
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Focal T2 hyperintense basal ganglia lesion  (IAGP)
Focal T2 hyperintense thalamic lesion  (IAGP)
Focal tonic seizure  (IAGP)
Focal-onset seizure  (IAGP)
Functional motor deficit  (IAGP)
Gait ataxia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Generalized-onset seizure  (IAGP)
Gliosis  (IAGP)
Hallucinations  (IAGP)
Horizontal nystagmus  (IAGP)
Hyperactivity  (IAGP)
Hyperhidrosis  (IAGP)
Hypermetric saccades  (IAGP)
Hyperreflexia  (IAGP)
Impaired vibratory sensation  (IAGP)
Inability to walk  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased extraneuronal autofluorescent lipopigment  (IAGP)
Increased neuronal autofluorescent lipopigment  (IAGP)
Intellectual disability  (IAGP)
Interictal EEG abnormality  (IAGP)
Intracellular accumulation of autofluorescent lipopigment storage material  (IAGP)
Language impairment  (IAGP)
Large central visual field defect  (IAGP)
Limb ataxia  (IAGP)
Loss of ambulation  (IAGP)
Loss of speech  (IAGP)
Low frustration tolerance  (IAGP)
Low-set ears  (IAGP)
Mental deterioration  (IAGP)
Microcephaly  (IAGP)
Motor deterioration  (IAGP)
Motor regression  (IAGP)
Multifocal epileptiform discharges  (IAGP)
Myoclonic seizure  (IAGP)
Myoclonic spasms  (IAGP)
Myoclonus  (IAGP)
Myopia  (IAGP)
Neonatal respiratory distress  (IAGP)
Neuronal loss in the cerebral cortex  (IAGP)
Non-periodic recurrent fever  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive trait  (IAGP)
Oculomotor apraxia  (IAGP)
Optic disc pallor  (IAGP)
Pachygyria  (IAGP)
Parkinsonism  (IAGP)
Periventricular white matter hyperintensities  (IAGP)
Pigmentary retinopathy  (IAGP)
Poor fine motor coordination  (IAGP)
Poor head control  (IAGP)
Poor motor coordination  (IAGP)
Postural tremor  (IAGP)
Progressive cerebellar ataxia  (IAGP)
Progressive gait ataxia  (IAGP)
Progressive language deterioration  (IAGP)
Progressive visual field defects  (IAGP)
Progressive visual loss  (IAGP)
Reduced visual acuity  (IAGP)
Respiratory failure  (IAGP)
Retinal degeneration  (IAGP)
Saccadic smooth pursuit  (IAGP)
Scanning speech  (IAGP)
Seizure  (IAGP)
Sleep abnormality  (IAGP)
Sloping forehead  (IAGP)
Slowly progressive  (IAGP)
Spasticity  (IAGP)
Split hand  (IAGP)
Status epilepticus  (IAGP)
Tachycardia  (IAGP)
Tremor  (IAGP)
Truncal titubation  (IAGP)
Tube feeding  (IAGP)
Typical absence seizure  (IAGP)
Undetectable electroretinogram  (IAGP)
Unsteady gait  (IAGP)
Urinary urgency  (IAGP)
Vascular granular osmiophilic material deposition  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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: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:32146219   PMID:32631363   PMID:32707033  
PMID:32735728   PMID:32814053   PMID:32903138   PMID:32994395   PMID:33022573   PMID:33317560   PMID:33446513   PMID:33545068   PMID:33549587   PMID:33822766   PMID:33961781   PMID:34112789  
PMID:34578187   PMID:34687317   PMID:34709727   PMID:35256949   PMID:35271311   PMID:35418675   PMID:35446349   PMID:35509820   PMID:35914814   PMID:35921411   PMID:35944360   PMID:36114006  
PMID:36147632   PMID:36215168   PMID:36991106   PMID:37021555   PMID:37078466   PMID:37606165   PMID:37922835  


Genomics

Comparative Map Data
TPP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38116,612,768 - 6,619,422 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl116,612,768 - 6,619,448 (-)EnsemblGRCh38hg38GRCh38
GRCh37116,633,999 - 6,640,653 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36116,590,573 - 6,597,268 (-)NCBINCBI36Build 36hg18NCBI36
Celera116,753,063 - 6,759,757 (-)NCBICelera
Cytogenetic Map11p15.4NCBI
HuRef116,292,929 - 6,299,623 (-)NCBIHuRef
CHM1_1116,632,898 - 6,639,593 (-)NCBICHM1_1
T2T-CHM13v2.0116,671,236 - 6,677,889 (-)NCBIT2T-CHM13v2.0
Tpp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397105,394,018 - 105,401,489 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7105,394,018 - 105,401,442 (-)EnsemblGRCm39 Ensembl
GRCm387105,744,811 - 105,752,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7105,744,811 - 105,752,235 (-)EnsemblGRCm38mm10GRCm38
MGSCv377112,893,361 - 112,900,721 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367105,618,668 - 105,626,028 (-)NCBIMGSCv36mm8
Celera7106,016,147 - 106,023,505 (-)NCBICelera
Cytogenetic Map7E3NCBI
cM Map755.97NCBI
Tpp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81169,509,816 - 169,515,939 (-)NCBIGRCr8
mRatBN7.21160,097,984 - 160,104,108 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1160,096,833 - 160,104,129 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1168,120,535 - 168,126,656 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01175,306,532 - 175,312,653 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01168,208,290 - 168,214,411 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01170,588,036 - 170,594,159 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1170,588,035 - 170,594,168 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01177,592,725 - 177,600,011 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41163,490,394 - 163,496,517 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v299,049,953 - 9,056,684 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1119,013,770 - 9,020,494 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0116,744,815 - 6,751,556 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1116,427,516 - 6,434,222 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl116,427,522 - 6,434,222 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02130,747,948 - 30,753,157 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2130,746,092 - 30,753,273 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12130,068,707 - 30,073,915 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02130,234,365 - 30,239,567 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02130,429,691 - 30,434,901 (-)NCBIUU_Cfam_GSD_1.0
Tpp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494755,998,722 - 56,005,618 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936842669,863 - 676,720 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 3,143,404 (+)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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl158,206,072 - 58,210,945 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038156,031,787 - 156,038,501 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tpp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248178,104,939 - 8,111,035 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248178,104,934 - 8,111,049 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TPP1
898 total Variants

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 Neuronal ceroid lipofuscinosis 2 [RCV001829564]|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 Neuronal ceroid lipofuscinosis 2 [RCV001834754]|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 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 Abnormality of the nervous system [RCV001813939]|Inborn genetic diseases [RCV000210605]|Neuronal ceroid lipofuscinosis 2 [RCV000002762]|Neuronal ceroid lipofuscinosis 2 [RCV000763267]|Neuronal ceroid lipofuscinosis [RCV000230952]|TPP1-related condition [RCV003398423]|not provided [RCV000189769] Chr11:6617040 [GRCh38]
Chr11:6638271 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.887-10A>G single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 2 [RCV001834752]|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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002525290]|Neuronal ceroid lipofuscinosis 2 [RCV001273172]|Seizure [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 Inborn genetic diseases [RCV002316473]|Neuronal ceroid lipofuscinosis 2 [RCV001274547]|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 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 Inborn genetic diseases [RCV002404352]|Neuronal ceroid lipofuscinosis 2 [RCV001829527]|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 Neuronal ceroid lipofuscinosis 2 [RCV000002760]|TPP1-related condition [RCV003415631]|not provided [RCV001248011] Chr11:6616057 [GRCh38]
Chr11:6637288 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000002761]|Neuronal ceroid lipofuscinosis 2 [RCV002496238]|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 Autosomal recessive spinocerebellar ataxia 7 [RCV000074608]|Inborn genetic diseases [RCV000210689]|Neuronal ceroid lipofuscinosis 2 [RCV000002763]|Neuronal ceroid lipofuscinosis 2 [RCV000763268]|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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000002766]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000002767]|not provided [RCV001851588] Chr11:6616690 [GRCh38]
Chr11:6637921 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV000074609]|not provided [RCV001529105] Chr11:6615199 [GRCh38]
Chr11:6636430 [GRCh37]
Chr11:11p15.4
pathogenic|likely 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000059618]|not provided [RCV001854251] Chr11:6615554 [GRCh38]
Chr11:6636785 [GRCh37]
Chr11:11p15.4
likely pathogenic|not provided
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000059619]|not provided [RCV000541263] Chr11:6615542 [GRCh38]
Chr11:6636773 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV001252369]|Inborn genetic diseases [RCV000210643]|Neuronal ceroid lipofuscinosis 2 [RCV000059620]|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 Neuronal ceroid lipofuscinosis 2 [RCV000059621] Chr11:6615235 [GRCh38]
Chr11:6636466 [GRCh37]
Chr11:11p15.4
likely pathogenic|not provided
NM_000391.4(TPP1):c.1417G>A (p.Gly473Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000059622]|not provided [RCV001854252] Chr11:6615179 [GRCh38]
Chr11:6636410 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000059623]|Neuronal ceroid lipofuscinosis [RCV002307388]|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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000059626]|Neuronal ceroid lipofuscinosis [RCV001731479]|not provided [RCV001854253] Chr11:6618776 [GRCh38]
Chr11:6640007 [GRCh37]
Chr11:11p15.4
pathogenic|not provided
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) single nucleotide variant Inborn genetic diseases [RCV002311542]|Neuronal ceroid lipofuscinosis 2 [RCV001104756]|Neuronal ceroid lipofuscinosis 2 [RCV002490667]|Neuronal ceroid lipofuscinosis [RCV000988485]|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 Neuronal ceroid lipofuscinosis 2 [RCV000059628]|Neuronal ceroid lipofuscinosis [RCV002281905]|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 Neuronal ceroid lipofuscinosis 2 [RCV000059629]|not provided [RCV001854254] Chr11:6617057 [GRCh38]
Chr11:6638288 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|not provided
NM_000391.4(TPP1):c.617G>A (p.Arg206His) single nucleotide variant Inborn genetic diseases [RCV002354256]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000059631]|Neuronal ceroid lipofuscinosis [RCV001778699] Chr11:6616718 [GRCh38]
Chr11:6637949 [GRCh37]
Chr11:11p15.4
likely pathogenic|not provided
NM_000391.4(TPP1):c.860T>A (p.Ile287Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002515801]|Neuronal ceroid lipofuscinosis 2 [RCV001831911]|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 Inborn genetic diseases [RCV002316221]|Neuronal ceroid lipofuscinosis 2 [RCV000674709]|Neuronal ceroid lipofuscinosis 2 [RCV001280958]|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 Inborn genetic diseases [RCV002311556]|Neuronal ceroid lipofuscinosis 2 [RCV000343988]|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 Inborn genetic diseases [RCV002312512]|Neuronal ceroid lipofuscinosis 2 [RCV001102828]|Neuronal ceroid lipofuscinosis 2 [RCV002498539]|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 Inborn genetic diseases [RCV002312513]|Neuronal ceroid lipofuscinosis 2 [RCV000267775]|Neuronal ceroid lipofuscinosis 2 [RCV002490815]|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 Inborn genetic diseases [RCV002312514]|Neuronal ceroid lipofuscinosis 2 [RCV000303128]|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 Autosomal recessive spinocerebellar ataxia 7 [RCV001538063]|Inborn genetic diseases [RCV002312515]|Neuronal ceroid lipofuscinosis 2 [RCV000601152]|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 Inborn genetic diseases [RCV002313926]|Neuronal ceroid lipofuscinosis 2 [RCV000509378]|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 Inborn genetic diseases [RCV002312516]|Neuronal ceroid lipofuscinosis 2 [RCV000290078]|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 Inborn genetic diseases [RCV002312888]|Neuronal ceroid lipofuscinosis 2 [RCV001105890]|Neuronal ceroid lipofuscinosis 2 [RCV002492470]|not provided [RCV000713863]|not specified [RCV000125584] Chr11:6618820 [GRCh38]
Chr11:6640051 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.513G>T (p.Gly171=) single nucleotide variant Inborn genetic diseases [RCV002336275]|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 Inborn genetic diseases [RCV002312568]|Neuronal ceroid lipofuscinosis 2 [RCV000625039]|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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002312569]|Neuronal ceroid lipofuscinosis 2 [RCV001108043]|Neuronal ceroid lipofuscinosis 2 [RCV002492471]|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 Inborn genetic diseases [RCV002316376]|Neuronal ceroid lipofuscinosis 2 [RCV001108042]|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 Inborn genetic diseases [RCV002312889]|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 Inborn genetic diseases [RCV002312570]|not provided [RCV000457457]|not specified [RCV000125597] Chr11:6619243 [GRCh38]
Chr11:6640474 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.802C>T (p.Arg268Trp) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001835454]|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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002316995]|Neuronal ceroid lipofuscinosis 2 [RCV000322901]|Neuronal ceroid lipofuscinosis 2 [RCV001280959]|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 Neuronal ceroid lipofuscinosis 2 [RCV001107389]|not provided [RCV000724266] 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 Neuronal ceroid lipofuscinosis 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 Autosomal recessive spinocerebellar ataxia 7 [RCV000211004]|not provided [RCV002509307] Chr11:6616361 [GRCh38]
Chr11:6637592 [GRCh37]
Chr11:11p15.4
pathogenic|uncertain significance
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) deletion Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000169608]|Neuronal ceroid lipofuscinosis 2 [RCV002498846]|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 Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000340409]|Neuronal ceroid lipofuscinosis 2 [RCV000678677]|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 Inborn genetic diseases [RCV002314660]|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 Neuronal ceroid lipofuscinosis 2 [RCV001275124]|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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002514073]|Neuronal ceroid lipofuscinosis 2 [RCV001275125]|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 Neuronal ceroid lipofuscinosis 2 [RCV000209853]|Neuronal ceroid lipofuscinosis [RCV003235113]|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 Inborn genetic diseases [RCV003352801]|Neuronal ceroid lipofuscinosis 2 [RCV001102831]|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 Inborn genetic diseases [RCV002517902]|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 Neuronal ceroid lipofuscinosis 2 [RCV001828011]|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 Neuronal ceroid lipofuscinosis 2 [RCV001833131]|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 not provided [RCV001852518]|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 Inborn genetic diseases [RCV002314770]|Neuronal ceroid lipofuscinosis 2 [RCV001274545]|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 Inborn genetic diseases [RCV003362719]|Neuronal ceroid lipofuscinosis 2 [RCV001833126]|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 Inborn genetic diseases [RCV002314771]|Neuronal ceroid lipofuscinosis 2 [RCV001274548]|Neuronal ceroid lipofuscinosis 2 [RCV003224212]|not provided [RCV000726300]|not specified [RCV000189748] Chr11:6619394 [GRCh38]
Chr11:6640625 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.65G>A (p.Ser22Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001105891]|not provided [RCV000476891] 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 Inborn genetic diseases [RCV002362994]|Neuronal ceroid lipofuscinosis 2 [RCV000341505]|Neuronal ceroid lipofuscinosis 2 [RCV000765001]|not provided [RCV000189750] Chr11:6618904 [GRCh38]
Chr11:6640135 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) single nucleotide variant Inborn genetic diseases [RCV000210549]|Neuronal ceroid lipofuscinosis 2 [RCV000984312]|Neuronal ceroid lipofuscinosis 2 [RCV002492873]|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 Neuronal ceroid lipofuscinosis 2 [RCV000305227]|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 Inborn genetic diseases [RCV002415815]|Neuronal ceroid lipofuscinosis 2 [RCV001833127]|not provided [RCV000189755] Chr11:6618808 [GRCh38]
Chr11:6640039 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000673684]|Neuronal ceroid lipofuscinosis [RCV001731509]|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 Neuronal ceroid lipofuscinosis 2 [RCV000765000]|Neuronal ceroid lipofuscinosis 2 [RCV001274542]|not provided [RCV000189758] Chr11:6617687 [GRCh38]
Chr11:6638918 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) single nucleotide variant Angelman syndrome [RCV001804926]|Neuronal ceroid lipofuscinosis 2 [RCV000763269]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001833128]|not provided [RCV000189761] Chr11:6617384 [GRCh38]
Chr11:6638615 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.473A>C (p.Gln158Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002336504]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002317661]|Neuronal ceroid lipofuscinosis 2 [RCV001833129]|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 Autosomal recessive spinocerebellar ataxia 7 [RCV001578829]|Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002317662]|Neuronal ceroid lipofuscinosis 2 [RCV000764999]|Neuronal ceroid lipofuscinosis 2 [RCV001274539]|not provided [RCV000189771] Chr11:6616771 [GRCh38]
Chr11:6638002 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) single nucleotide variant Inborn genetic diseases [RCV002317663]|Neuronal ceroid lipofuscinosis 2 [RCV001275122]|not provided [RCV000189772]|not specified [RCV002265676] Chr11:6616750 [GRCh38]
Chr11:6637981 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000666770]|Neuronal ceroid lipofuscinosis 2 [RCV002485283]|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 Neuronal ceroid lipofuscinosis 2 [RCV001833130]|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 Inborn genetic diseases [RCV002317664]|Neuronal ceroid lipofuscinosis 2 [RCV001329231]|Neuronal ceroid lipofuscinosis [RCV003401035]|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 Inborn genetic diseases [RCV002514074]|Neuronal ceroid lipofuscinosis 2 [RCV000764998]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001273173]|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 Inborn genetic diseases [RCV002381645]|Intellectual disability [RCV001252368]|Neuronal ceroid lipofuscinosis 2 [RCV000764997]|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 Inborn genetic diseases [RCV002517022]|Neuronal ceroid lipofuscinosis 2 [RCV001828010]|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 Inborn genetic diseases [RCV002390502]|Neuronal ceroid lipofuscinosis 2 [RCV000764996]|Neuronal ceroid lipofuscinosis 2 [RCV001274537]|not provided [RCV000189793] Chr11:6614891 [GRCh38]
Chr11:6636122 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) single nucleotide variant Inborn genetic diseases [RCV002399705]|Neuronal ceroid lipofuscinosis 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 2 [RCV001835715]|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 Neuronal ceroid lipofuscinosis [RCV003235114]|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 Neuronal ceroid lipofuscinosis 2 [RCV000384515]|not provided [RCV000725967] 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 2 [RCV001833132]|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 Neuronal ceroid lipofuscinosis 2 [RCV001828012]|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 Neuronal ceroid lipofuscinosis 2 [RCV000207147] Chr11:6617353 [GRCh38]
Chr11:6638584 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.457_490del (p.Ser153fs) deletion Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000234824]|not provided [RCV003137850] Chr11:6617338 [GRCh38]
Chr11:6638569 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000669857]|not specified [RCV001844216] 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000354560]|not provided [RCV002056219] Chr11:6616034 [GRCh38]
Chr11:6637265 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.*1588C>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000273317] Chr11:6612958 [GRCh38]
Chr11:6634189 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.*71G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000404663] Chr11:6614475 [GRCh38]
Chr11:6635706 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.*1428T>C single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000259663]|Neuronal ceroid lipofuscinosis 2 [RCV002502207]|not provided [RCV000632726]|not specified [RCV002222484] 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000316562] Chr11:6613428 [GRCh38]
Chr11:6634659 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001828243]|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]|not provided [RCV003401299] Chr11:6613329..6613330 [GRCh38]
Chr11:6634560..6634561 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.-21G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000395682] Chr11:6619421 [GRCh38]
Chr11:6640652 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*785T>G single nucleotide variant Neuronal ceroid lipofuscinosis 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]|Neuronal ceroid lipofuscinosis 2 [RCV001835777]|not provided [RCV000675461]|not specified [RCV001702419] Chr11:6616509 [GRCh38]
Chr11:6637740 [GRCh37]
Chr11:11p15.4
benign|likely benign|uncertain significance
NM_000391.4(TPP1):c.*1570C>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000328365] Chr11:6612976 [GRCh38]
Chr11:6634207 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*312T>C single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal Ceroid-Lipofuscinosis, Recessive [RCV000333752]|Neuronal ceroid lipofuscinosis 2 [RCV001273176]|not provided [RCV000675458] Chr11:6616509..6616510 [GRCh38]
Chr11:6637740..6637741 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000363243] Chr11:6612918 [GRCh38]
Chr11:6634149 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.381-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000670849]|Neuronal ceroid lipofuscinosis [RCV000589489]|not provided [RCV001860125] Chr11:6617430 [GRCh38]
Chr11:6638661 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001829405]|not provided [RCV000489192] Chr11:6615257 [GRCh38]
Chr11:6636488 [GRCh37]
Chr11:11p15.4
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) single nucleotide variant Inborn genetic diseases [RCV002311808]|Neuronal ceroid lipofuscinosis 2 [RCV001102830]|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 Neuronal ceroid lipofuscinosis 2 [RCV001829400]|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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001278545] Chr11:6619250 [GRCh38]
Chr11:6640481 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-5T>C single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000308532] Chr11:6612912 [GRCh38]
Chr11:6634143 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1774G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000371192] Chr11:6612772 [GRCh38]
Chr11:6634003 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1311C>T single nucleotide variant Neuronal ceroid lipofuscinosis 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]|not provided [RCV002520737] Chr11:6616508..6616509 [GRCh38]
Chr11:6637739..6637740 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.*1000T>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000375789] Chr11:6613546 [GRCh38]
Chr11:6634777 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.886+7C>T single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002431768]|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 2 [RCV001834908]|not provided [RCV000598289] Chr11:6614922 [GRCh38]
Chr11:6636153 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.609dup (p.Val204fs) duplication Neuronal ceroid lipofuscinosis 2 [RCV000409411]|not provided [RCV002524617] Chr11:6617052..6617053 [GRCh38]
Chr11:6638283..6638284 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.1449dup (p.Ile484fs) duplication Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000410411] Chr11:6617777 [GRCh38]
Chr11:6639008 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.819del (p.Ser274fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV000410935] Chr11:6616728 [GRCh38]
Chr11:6637959 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1145+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000411197]|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 Neuronal ceroid lipofuscinosis 2 [RCV000411357]|Neuronal ceroid lipofuscinosis [RCV003114527] Chr11:6617022 [GRCh38]
Chr11:6638253 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1551+1G>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000411444]|not provided [RCV001038809] Chr11:6614865 [GRCh38]
Chr11:6636096 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter) single nucleotide variant Abnormality of the nervous system [RCV001814153]|Neuronal ceroid lipofuscinosis 2 [RCV000411513] Chr11:6615449 [GRCh38]
Chr11:6636680 [GRCh37]
Chr11:11p15.4
pathogenic|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 Abnormality of the nervous system [RCV001836808]|Neuronal ceroid lipofuscinosis 2 [RCV000411672] 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 Neuronal ceroid lipofuscinosis 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] Chr11:6618798 [GRCh38]
Chr11:6640029 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.139C>T (p.Leu47=) single nucleotide variant not provided [RCV002059860]|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 not provided [RCV001703506] Chr11:6618882 [GRCh38]
Chr11:6640113 [GRCh37]
Chr11:11p15.4
likely benign|conflicting interpretations of pathogenicity|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 Inborn genetic diseases [RCV002318400]|not provided [RCV000541669] Chr11:6619216 [GRCh38]
Chr11:6640447 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.-3A>G single nucleotide variant Inborn genetic diseases [RCV002356530]|not specified [RCV000439298] Chr11:6619403 [GRCh38]
Chr11:6640634 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
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] Chr11:6619277 [GRCh38]
Chr11:6640508 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887-18A>G single nucleotide variant Neuronal ceroid lipofuscinosis 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 provided [RCV002524807]|not specified [RCV000422701] Chr11:6617623 [GRCh38]
Chr11:6638854 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.318C>T (p.Ala106=) single nucleotide variant Inborn genetic diseases [RCV002323593]|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 Inborn genetic diseases [RCV002524808]|not provided [RCV000863964] Chr11:6617158 [GRCh38]
Chr11:6638389 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) single nucleotide variant Inborn genetic diseases [RCV002313067]|Neuronal ceroid lipofuscinosis 2 [RCV001375972]|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 Neuronal ceroid lipofuscinosis 2 [RCV002488889]|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 provided [RCV002065043]|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 Inborn genetic diseases [RCV002311449]|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 Neuronal ceroid lipofuscinosis 2 [RCV001833580]|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 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 Inborn genetic diseases [RCV002374852]|not provided [RCV000470536]|not specified [RCV000601663] Chr11:6616863 [GRCh38]
Chr11:6638094 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) single nucleotide variant Inborn genetic diseases [RCV002313167]|Neuronal ceroid lipofuscinosis 2 [RCV001108044]|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 Neuronal ceroid lipofuscinosis 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 2 [RCV001833610]|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 Neuronal ceroid lipofuscinosis 2 [RCV001273170]|not provided [RCV001856803] Chr11:6614921 [GRCh38]
Chr11:6636152 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.297G>A (p.Val99=) single nucleotide variant 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 Neuronal ceroid lipofuscinosis 2 [RCV001829413]|Neuronal ceroid lipofuscinosis [RCV003403142]|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 Neuronal ceroid lipofuscinosis 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 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 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 Neuronal ceroid lipofuscinosis 2 [RCV001273171]|Neuronal ceroid lipofuscinosis 2 [RCV002497073]|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 Seizure [RCV001281468]|not provided [RCV000632719]|not specified [RCV003235318] 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 2 [RCV001829779]|not provided [RCV002528858] 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 2 [RCV001829780]|not provided [RCV001860495] Chr11:6614982 [GRCh38]
Chr11:6636213 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.858C>A (p.Asn286Lys) single nucleotide variant not provided [RCV001359419] Chr11:6616689 [GRCh38]
Chr11:6637920 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.1593A>G (p.Val531=) single nucleotide variant 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 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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]|not provided [RCV001860456] Chr11:6614920 [GRCh38]
Chr11:6636151 [GRCh37]
Chr11:11p15.4
pathogenic|likely 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 Inborn genetic diseases [RCV002527680]|Neuronal ceroid lipofuscinosis 2 [RCV001834751]|not provided [RCV001566516] 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 Neuronal ceroid lipofuscinosis 2 [RCV001275126]|not provided [RCV000866927] 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 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 Neuronal ceroid lipofuscinosis 2 [RCV001834753]|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 2 [RCV001835010]|not provided [RCV001868170] Chr11:6616969 [GRCh38]
Chr11:6638200 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1134C>G (p.Phe378Leu) single nucleotide variant 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001835059]|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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000672940] Chr11:6616816 [GRCh38]
Chr11:6638047 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.887-8_887-6del deletion Neuronal ceroid lipofuscinosis 2 [RCV001829887]|not provided [RCV000675459]|not specified [RCV001703231] Chr11:6616509..6616511 [GRCh38]
Chr11:6637740..6637742 [GRCh37]
Chr11:11p15.4
benign|likely 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Autosomal recessive spinocerebellar ataxia 7 [RCV001644760]|Neuronal ceroid lipofuscinosis 2 [RCV000668623]|not provided [RCV001215564] Chr11:6618780 [GRCh38]
Chr11:6640011 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.17+1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV000668665] Chr11:6619383 [GRCh38]
Chr11:6640614 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) deletion Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000680130] Chr11:6616052 [GRCh38]
Chr11:6637283 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV000673142] Chr11:6615203..6615204 [GRCh38]
Chr11:6636434..6636435 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.689del (p.Phe230fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV000677174] Chr11:6616858 [GRCh38]
Chr11:6638089 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.184del (p.Ser62fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV000677192] Chr11:6618821 [GRCh38]
Chr11:6640052 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.184_185del (p.Ser62fs) microsatellite Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000670860]|not provided [RCV001379972] Chr11:6616076 [GRCh38]
Chr11:6637307 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.357dup (p.Leu120fs) duplication Neuronal ceroid lipofuscinosis 2 [RCV000670223]|Neuronal ceroid lipofuscinosis 2 [RCV002493105]|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 Neuronal ceroid lipofuscinosis 2 [RCV000667649]|Neuronal ceroid lipofuscinosis [RCV003230565]|not provided [RCV001379383] Chr11:6616076 [GRCh38]
Chr11:6637307 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 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|likely 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|likely benign
NM_000391.4(TPP1):c.1076-1G>A single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV000668234]|Neuronal ceroid lipofuscinosis [RCV003117472]|not provided [RCV001058281] Chr11:6616342 [GRCh38]
Chr11:6637573 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.508+2dup duplication Neuronal ceroid lipofuscinosis 2 [RCV000668261] Chr11:6617298..6617299 [GRCh38]
Chr11:6638529..6638530 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter) duplication Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Autosomal recessive spinocerebellar ataxia 7 [RCV002530680]|Neuronal ceroid lipofuscinosis 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|likely benign
NM_000391.4(TPP1):c.1075+28T>C single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV001538069]|Neuronal ceroid lipofuscinosis 2 [RCV001538068]|not provided [RCV000675456] Chr11:6616287 [GRCh38]
Chr11:6637518 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.508+26T>A single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV001538073]|Neuronal ceroid lipofuscinosis 2 [RCV001538072]|not provided [RCV000675463] Chr11:6617275 [GRCh38]
Chr11:6638506 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer) deletion Neuronal ceroid lipofuscinosis 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 2 [RCV001830489]|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 Neuronal ceroid lipofuscinosis 2 [RCV001830541]|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 Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002406589]|Neuronal ceroid lipofuscinosis 2 [RCV001830522]|not provided [RCV001662760] Chr11:6616772 [GRCh38]
Chr11:6638003 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) single nucleotide variant Inborn genetic diseases [RCV002315999]|Neuronal ceroid lipofuscinosis 2 [RCV001274538]|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 Inborn genetic diseases [RCV002547134]|Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001835918]|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 Inborn genetic diseases [RCV002313560] Chr11:6614905 [GRCh38]
Chr11:6636136 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.816G>A (p.Glu272=) single nucleotide variant Inborn genetic diseases [RCV002315386]|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 Inborn genetic diseases [RCV002315415]|not provided [RCV001486062] Chr11:6617344 [GRCh38]
Chr11:6638575 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) single nucleotide variant Inborn genetic diseases [RCV002318248]|Neuronal ceroid lipofuscinosis 2 [RCV001830594]|not provided [RCV001532627] Chr11:6615296 [GRCh38]
Chr11:6636527 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) single nucleotide variant Inborn genetic diseases [RCV002318204]|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 Inborn genetic diseases [RCV002318339]|Neuronal ceroid lipofuscinosis 2 [RCV001274544]|not provided [RCV002534985] Chr11:6617722 [GRCh38]
Chr11:6638953 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 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.1076-66T>A single nucleotide variant not provided [RCV001540699] Chr11:6616140 [GRCh38]
Chr11:6637371 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1407A>G (p.Pro469=) single nucleotide variant not provided [RCV001610944] Chr11:6615189 [GRCh38]
Chr11:6636420 [GRCh37]
Chr11:11p15.4
benign|likely benign
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002497463]|Neuronal ceroid lipofuscinosis [RCV002265936]|not provided [RCV001065769] Chr11:6617328 [GRCh38]
Chr11:6638559 [GRCh37]
Chr11:11p15.4
pathogenic|likely 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 not provided [RCV001862796] Chr11:6616662 [GRCh38]
Chr11:6637893 [GRCh37]
Chr11:11p15.4
likely benign|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 Inborn genetic diseases [RCV002332805]|Neuronal ceroid lipofuscinosis 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 Inborn genetic diseases [RCV002363452]|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 Neuronal ceroid lipofuscinosis 2 [RCV001275127]|not provided [RCV001560279] 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 2 [RCV001827393]|not provided [RCV001862468] 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 not provided [RCV001862472] 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 Silver-Russell syndrome 1 [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
benign|likely benign
NM_000391.4(TPP1):c.1076-17C>T single nucleotide variant not provided [RCV000841809]|not specified [RCV001844241] Chr11:6616091 [GRCh38]
Chr11:6637322 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.3(TPP1):c.-122T>C 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 2 [RCV001825581]|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 Neuronal ceroid lipofuscinosis 2 [RCV001830809]|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 Neuronal ceroid lipofuscinosis 2 [RCV001104755]|Neuronal ceroid lipofuscinosis 2 [RCV002501061]|not provided [RCV001869254] Chr11:6617372 [GRCh38]
Chr11:6638603 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.956A>G (p.His319Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001825653]|not provided [RCV001856257] Chr11:6616434 [GRCh38]
Chr11:6637665 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.3(TPP1):c.-49T>C 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 2 [RCV001830691]|not provided [RCV001873237] Chr11:6614680 [GRCh38]
Chr11:6635911 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.381-23G>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001835984]|not provided [RCV000830081] Chr11:6617451 [GRCh38]
Chr11:6638682 [GRCh37]
Chr11:11p15.4
benign|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 Neuronal ceroid lipofuscinosis 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 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 2 [RCV001825590]|not provided [RCV001856250] Chr11:6618803 [GRCh38]
Chr11:6640034 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.163C>G (p.Gln55Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001825562]|not provided [RCV000797713] Chr11:6618842 [GRCh38]
Chr11:6640073 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.1559G>A (p.Arg520His) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Autosomal recessive spinocerebellar ataxia 7 [RCV001538067]|Neuronal ceroid lipofuscinosis 2 [RCV001538066]|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 Neuronal ceroid lipofuscinosis 2 [RCV002497295]|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 Autosomal recessive spinocerebellar ataxia 7 [RCV001538071]|Neuronal ceroid lipofuscinosis 2 [RCV001538070]|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 not provided [RCV001869255] Chr11:6619196 [GRCh38]
Chr11:6640427 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.572C>T (p.Thr191Ile) single nucleotide variant 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 Neuronal ceroid lipofuscinosis 2 [RCV001329232]|not provided [RCV002537370] 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
NM_000391.3(TPP1):c.-238T>C single nucleotide variant not provided [RCV000829389] Chr11:6619638 [GRCh38]
Chr11:6640869 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.1552-4del deletion 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 Inborn genetic diseases [RCV002406787]|Neuronal ceroid lipofuscinosis 2 [RCV001825589]|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 2 [RCV001825580]|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 2 [RCV001825555]|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]|not provided [RCV001876290] Chr11:6615188..6615199 [GRCh38]
Chr11:6636419..6636430 [GRCh37]
Chr11:11p15.4
pathogenic|likely 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 Inborn genetic diseases [RCV002402651]|Neuronal ceroid lipofuscinosis 2 [RCV001828728]|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 2 [RCV001833918]|not provided [RCV001859219] 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 2 [RCV001835101]|not provided [RCV002563999] Chr11:6617784 [GRCh38]
Chr11:6639015 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.509-8C>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001833945]|not provided [RCV001859220] Chr11:6617161 [GRCh38]
Chr11:6638392 [GRCh37]
Chr11:11p15.4
likely benign|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 Neuronal ceroid lipofuscinosis 2 [RCV001828815]|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 Neuronal ceroid lipofuscinosis 2 [RCV001828943]|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 Neuronal ceroid lipofuscinosis 2 [RCV001828801]|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 Neuronal ceroid lipofuscinosis 2 [RCV001278540]|not provided [RCV002562601] Chr11:6616777 [GRCh38]
Chr11:6638008 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+5C>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001835333]|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 Neuronal ceroid lipofuscinosis 2 [RCV001107301] Chr11:6612805 [GRCh38]
Chr11:6634036 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*984T>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001104640] Chr11:6613562 [GRCh38]
Chr11:6634793 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*829C>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001104642] Chr11:6613717 [GRCh38]
Chr11:6634948 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*346A>G single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001102723] Chr11:6613264 [GRCh38]
Chr11:6634495 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.9:g.(?_6625502)_(6662844_?)dup duplication not provided [RCV003107734] Chr11:6625502..6662844 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1496dup (p.Leu500fs) duplication not provided [RCV001551129] Chr11:6614920..6614921 [GRCh38]
Chr11:6636151..6636152 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.508+45G>T single nucleotide variant not provided [RCV001570079] Chr11:6617256 [GRCh38]
Chr11:6638487 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.229+19G>A single nucleotide variant not provided [RCV003107247] Chr11:6618757 [GRCh38]
Chr11:6639988 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1226G>T (p.Gly409Val) single nucleotide variant not provided [RCV003106683] Chr11:6615482 [GRCh38]
Chr11:6636713 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.688-23C>T single nucleotide variant not provided [RCV001558044] Chr11:6616882 [GRCh38]
Chr11:6638113 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-54C>T single nucleotide variant not provided [RCV001570788] Chr11:6614740 [GRCh38]
Chr11:6635971 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.824T>G (p.Leu275Arg) single nucleotide variant not provided [RCV001532628] Chr11:6616723 [GRCh38]
Chr11:6637954 [GRCh37]
Chr11:11p15.4
likely pathogenic
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 Neuronal ceroid lipofuscinosis 2 [RCV001836218]|not provided [RCV001243103] Chr11:6616501 [GRCh38]
Chr11:6637732 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.*124C>T single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001107388] Chr11:6614422 [GRCh38]
Chr11:6635653 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1552-14A>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001107390]|not provided [RCV002067793] Chr11:6614700 [GRCh38]
Chr11:6635931 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) single nucleotide variant Seizure [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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001836236]|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 2 [RCV001832431]|not provided [RCV002552574] 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 Neuronal ceroid lipofuscinosis 2 [RCV001828731]|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 2 [RCV001836212]|not provided [RCV001859222] Chr11:6619390 [GRCh38]
Chr11:6640621 [GRCh37]
Chr11:11p15.4
likely benign|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.509-3C>T single nucleotide variant not provided [RCV001561802] Chr11:6617156 [GRCh38]
Chr11:6638387 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.6619625T>C single nucleotide variant not provided [RCV001577610] Chr11:6619625 [GRCh38]
Chr11:6640856 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002471430] Chr11:6616378 [GRCh38]
Chr11:6637609 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic
NM_000391.4(TPP1):c.89+101G>A single nucleotide variant not provided [RCV001558595] Chr11:6619095 [GRCh38]
Chr11:6640326 [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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001103405] Chr11:6614305 [GRCh38]
Chr11:6635536 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.89+1G>A single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV001252370] Chr11:6619195 [GRCh38]
Chr11:6640426 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.*716C>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001104643] Chr11:6613830 [GRCh38]
Chr11:6635061 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*704C>T single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001027809]|Neuronal ceroid lipofuscinosis 2 [RCV001827209]|not provided [RCV001759924] 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 2 [RCV001832467]|not provided [RCV002553234] 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
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.323C>T (p.Ala108Val) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001836109]|not provided [RCV001068034] Chr11:6617683 [GRCh38]
Chr11:6638914 [GRCh37]
Chr11:11p15.4
conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.*1560C>T single nucleotide variant Neuronal ceroid lipofuscinosis 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 See cases [RCV003128424]|not provided [RCV001092692] Chr11:6614978 [GRCh38]
Chr11:6636209 [GRCh37]
Chr11:11p15.4
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.*1108T>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001102725] Chr11:6613438 [GRCh38]
Chr11:6634669 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*223T>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001107386] Chr11:6614323 [GRCh38]
Chr11:6635554 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*171T>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001107387] Chr11:6614375 [GRCh38]
Chr11:6635606 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145+3A>G single nucleotide variant not provided [RCV001862793] Chr11:6616002 [GRCh38]
Chr11:6637233 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1222_1224del (p.Ser408del) deletion not provided [RCV001862794] Chr11:6615484..6615486 [GRCh38]
Chr11:6636715..6636717 [GRCh37]
Chr11:11p15.4
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000391.4(TPP1):c.53A>T (p.Lys18Ile) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002481938]|not provided [RCV001047837] Chr11:6619232 [GRCh38]
Chr11:6640463 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1426-78T>C single nucleotide variant Autosomal recessive spinocerebellar ataxia 7 [RCV001538065]|Neuronal ceroid lipofuscinosis 2 [RCV001538064]|not provided [RCV001712987] Chr11:6615069 [GRCh38]
Chr11:6636300 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.*12C>A single nucleotide variant not provided [RCV001666123] Chr11:6614534 [GRCh38]
Chr11:6635765 [GRCh37]
Chr11:11p15.4
likely benign
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 Neuronal ceroid lipofuscinosis 2 [RCV001828748]|not provided [RCV001219810] Chr11:6617712 [GRCh38]
Chr11:6638943 [GRCh37]
Chr11:11p15.4
likely benign|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 Neuronal ceroid lipofuscinosis 2 [RCV001828670]|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 Neuronal ceroid lipofuscinosis 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
pathogenic|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 Neuronal ceroid lipofuscinosis 2 [RCV001835325]|not provided [RCV001248199] Chr11:6614974 [GRCh38]
Chr11:6636205 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1540T>C single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001107956] Chr11:6613006 [GRCh38]
Chr11:6634237 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.*1478T>A single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.807C>T (p.Ala269=) single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001831062]|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 Neuronal ceroid lipofuscinosis 2 [RCV001835469]|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 Neuronal ceroid lipofuscinosis 2 [RCV001835516]|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 Neuronal ceroid lipofuscinosis 2 [RCV001830296]|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|no classifications from unflagged records
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.89+34C>T single nucleotide variant not provided [RCV001581594] Chr11:6619162 [GRCh38]
Chr11:6640393 [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 Neuronal ceroid lipofuscinosis 2 [RCV001826034]|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 Neuronal ceroid lipofuscinosis 2 [RCV001835412]|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 Neuronal ceroid lipofuscinosis 2 [RCV001825979]|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 Neuronal ceroid lipofuscinosis 2 [RCV001278537]|not provided [RCV002069429] Chr11:6614983 [GRCh38]
Chr11:6636214 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.508+10A>G single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001291790]|not provided [RCV001859234] Chr11:6616796 [GRCh38]
Chr11:6638027 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.803G>A (p.Arg268Gln) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001835386]|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 Neuronal ceroid lipofuscinosis 2 [RCV001836262]|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 Inborn genetic diseases [RCV002547496]|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 Neuronal ceroid lipofuscinosis 2 [RCV001835399]|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 Neuronal ceroid lipofuscinosis 2 [RCV001278536] Chr11:6614668 [GRCh38]
Chr11:6635899 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-7C>T single nucleotide variant Neuronal ceroid lipofuscinosis 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 Neuronal ceroid lipofuscinosis 2 [RCV001836357]|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|conflicting interpretations of pathogenicity
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|conflicting interpretations of pathogenicity
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn) single nucleotide variant Inborn genetic diseases [RCV002350866]|not provided [RCV001438011] Chr11:6619231 [GRCh38]
Chr11:6640462 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
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|conflicting interpretations of pathogenicity
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
NC_000011.10:g.6619550C>T single nucleotide variant not provided [RCV001651844] Chr11:6619550 [GRCh38]
Chr11:6640781 [GRCh37]
Chr11:11p15.4
benign
NM_000391.4(TPP1):c.186G>C (p.Ser62=) single nucleotide variant not provided [RCV001715202] Chr11:6618819 [GRCh38]
Chr11:6640050 [GRCh37]
Chr11:11p15.4
benign|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 Neuronal ceroid lipofuscinosis 2 [RCV002512153]|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 Neuronal ceroid lipofuscinosis 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
NM_000391.4(TPP1):c.899del (p.Gly300fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV002246784] Chr11:6616491 [GRCh38]
Chr11:6637722 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV001823310]|not provided [RCV001783896] Chr11:6616374 [GRCh38]
Chr11:6637605 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.142A>C (p.Ser48Arg) single nucleotide variant not provided [RCV001770822] Chr11:6618863 [GRCh38]
Chr11:6640094 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1087del (p.Ala363fs) deletion not provided [RCV001783897] Chr11:6616063 [GRCh38]
Chr11:6637294 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr) single nucleotide variant not provided [RCV001772982] Chr11:6615277 [GRCh38]
Chr11:6636508 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.80A>G (p.Gln27Arg) single nucleotide variant not provided [RCV001765073] Chr11:6619205 [GRCh38]
Chr11:6640436 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.67C>T (p.Pro23Ser) single nucleotide variant not provided [RCV001765708] Chr11:6619218 [GRCh38]
Chr11:6640449 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.583_584insTACA (p.Gly195fs) insertion not provided [RCV001785080] Chr11:6617078..6617079 [GRCh38]
Chr11:6638309..6638310 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=) single nucleotide variant not specified [RCV001806724] Chr11:6614893 [GRCh38]
Chr11:6636124 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1219A>G (p.Ile407Val) single nucleotide variant not provided [RCV001982640] Chr11:6615489 [GRCh38]
Chr11:6636720 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1043C>A (p.Ala348Asp) single nucleotide variant not provided [RCV001929720] Chr11:6616347 [GRCh38]
Chr11:6637578 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1426-20T>C single nucleotide variant not provided [RCV002045438] Chr11:6615011 [GRCh38]
Chr11:6636242 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.620A>C (p.Lys207Thr) single nucleotide variant not provided [RCV002044843] Chr11:6617042 [GRCh38]
Chr11:6638273 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.461C>T (p.Pro154Leu) single nucleotide variant not provided [RCV001894935] Chr11:6617348 [GRCh38]
Chr11:6638579 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1007A>G (p.Tyr336Cys) single nucleotide variant not provided [RCV001950210] Chr11:6616383 [GRCh38]
Chr11:6637614 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.323C>G (p.Ala108Gly) single nucleotide variant not provided [RCV001929593] Chr11:6617683 [GRCh38]
Chr11:6638914 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.155C>A (p.Ala52Asp) single nucleotide variant not provided [RCV002006326] Chr11:6618850 [GRCh38]
Chr11:6640081 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.472C>T (p.Gln158Ter) single nucleotide variant not provided [RCV001949549] Chr11:6617337 [GRCh38]
Chr11:6638568 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.89+5_89+9del deletion not provided [RCV001970936] Chr11:6619187..6619191 [GRCh38]
Chr11:6640418..6640422 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.478C>G (p.Pro160Ala) single nucleotide variant not provided [RCV001914934] Chr11:6617331 [GRCh38]
Chr11:6638562 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1574C>T (p.Ser525Phe) single nucleotide variant not provided [RCV001864054] Chr11:6614664 [GRCh38]
Chr11:6635895 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.479C>T (p.Pro160Leu) single nucleotide variant not provided [RCV001864584] Chr11:6617330 [GRCh38]
Chr11:6638561 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.17+9T>C single nucleotide variant not provided [RCV002041771] Chr11:6619375 [GRCh38]
Chr11:6640606 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.799G>C (p.Gly267Arg) single nucleotide variant not provided [RCV001890031] Chr11:6616748 [GRCh38]
Chr11:6637979 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.805G>A (p.Ala269Thr) single nucleotide variant not provided [RCV001909900] Chr11:6616742 [GRCh38]
Chr11:6637973 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.431G>A (p.Gly144Glu) single nucleotide variant not provided [RCV002001959] Chr11:6617378 [GRCh38]
Chr11:6638609 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1514C>T (p.Pro505Leu) single nucleotide variant not provided [RCV001968295] Chr11:6614903 [GRCh38]
Chr11:6636134 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1644G>A (p.Trp548Ter) single nucleotide variant not provided [RCV001967332] Chr11:6614594 [GRCh38]
Chr11:6635825 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.992C>G (p.Ser331Cys) single nucleotide variant not provided [RCV001946110] Chr11:6616398 [GRCh38]
Chr11:6637629 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1674G>C (p.Lys558Asn) single nucleotide variant not provided [RCV001911784] Chr11:6614564 [GRCh38]
Chr11:6635795 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.290A>G (p.His97Arg) single nucleotide variant not provided [RCV001863353] Chr11:6617716 [GRCh38]
Chr11:6638947 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.3G>C (p.Met1Ile) single nucleotide variant not provided [RCV001966805] Chr11:6619398 [GRCh38]
Chr11:6640629 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1597G>A (p.Gly533Ser) single nucleotide variant not provided [RCV001890254] Chr11:6614641 [GRCh38]
Chr11:6635872 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1676C>G (p.Thr559Ser) single nucleotide variant not provided [RCV001965560] Chr11:6614562 [GRCh38]
Chr11:6635793 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.530C>T (p.Pro177Leu) single nucleotide variant Inborn genetic diseases [RCV003355688]|not provided [RCV001987470] Chr11:6617132 [GRCh38]
Chr11:6638363 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.68C>T (p.Pro23Leu) single nucleotide variant not provided [RCV002039491] Chr11:6619217 [GRCh38]
Chr11:6640448 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1554A>G (p.Val518=) single nucleotide variant not provided [RCV002084538] Chr11:6614684 [GRCh38]
Chr11:6635915 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.377T>G (p.Ile126Ser) single nucleotide variant not provided [RCV002023574] Chr11:6617629 [GRCh38]
Chr11:6638860 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1318A>G (p.Ser440Gly) single nucleotide variant not provided [RCV001968392] Chr11:6615278 [GRCh38]
Chr11:6636509 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509-6C>G single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002484587]|not provided [RCV001926740] Chr11:6617159 [GRCh38]
Chr11:6638390 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.275C>A (p.Ser92Tyr) single nucleotide variant not provided [RCV002043554] Chr11:6617731 [GRCh38]
Chr11:6638962 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1470G>C (p.Glu490Asp) single nucleotide variant not provided [RCV002040985] Chr11:6614947 [GRCh38]
Chr11:6636178 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.535A>G (p.Thr179Ala) single nucleotide variant not provided [RCV001964984] Chr11:6617127 [GRCh38]
Chr11:6638358 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1548_1551dup (p.Val518Ter) duplication not provided [RCV001946669] Chr11:6614865..6614866 [GRCh38]
Chr11:6636096..6636097 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.340G>A (p.Val114Met) single nucleotide variant not provided [RCV001910420] Chr11:6617666 [GRCh38]
Chr11:6638897 [GRCh37]
Chr11:11p15.4
uncertain significance
GRCh37/hg19 11p15.4(chr11:6502523-7248333)x3 copy number gain not provided [RCV001836564] Chr11:6502523..7248333 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1551T>G (p.Asp517Glu) single nucleotide variant not provided [RCV001932333] Chr11:6614866 [GRCh38]
Chr11:6636097 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.416A>G (p.His139Arg) single nucleotide variant not provided [RCV001936505] Chr11:6617393 [GRCh38]
Chr11:6638624 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1681C>G (p.Leu561Val) single nucleotide variant not provided [RCV001926276] Chr11:6614557 [GRCh38]
Chr11:6635788 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1066T>A (p.Phe356Ile) single nucleotide variant not provided [RCV001936893] Chr11:6616324 [GRCh38]
Chr11:6637555 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1186C>A (p.Pro396Thr) single nucleotide variant not provided [RCV001905970] Chr11:6615522 [GRCh38]
Chr11:6636753 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.706C>G (p.His236Asp) single nucleotide variant not provided [RCV001980835] Chr11:6616841 [GRCh38]
Chr11:6638072 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.629A>G (p.Asn210Ser) single nucleotide variant not provided [RCV001877749] Chr11:6617033 [GRCh38]
Chr11:6638264 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.568G>A (p.Val190Met) single nucleotide variant not provided [RCV001937167] Chr11:6617094 [GRCh38]
Chr11:6638325 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.190C>G (p.Leu64Val) single nucleotide variant not provided [RCV001997326] Chr11:6618815 [GRCh38]
Chr11:6640046 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1496del (p.Pro499fs) deletion not provided [RCV001999869] Chr11:6614921 [GRCh38]
Chr11:6636152 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.133G>A (p.Glu45Lys) single nucleotide variant not provided [RCV001919574] Chr11:6618872 [GRCh38]
Chr11:6640103 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.433C>G (p.Pro145Ala) single nucleotide variant not provided [RCV002038260] Chr11:6617376 [GRCh38]
Chr11:6638607 [GRCh37]
Chr11:11p15.4
uncertain significance
NC_000011.10:g.6615330del deletion not provided [RCV001935719] Chr11:6615329 [GRCh38]
Chr11:6636560 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1247T>A (p.Phe416Tyr) single nucleotide variant not provided [RCV001959872] Chr11:6615461 [GRCh38]
Chr11:6636692 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1363_1425+9del deletion not provided [RCV001917200] Chr11:6615162..6615233 [GRCh38]
Chr11:6636393..6636464 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.649G>C (p.Gly217Arg) single nucleotide variant not provided [RCV002027607] Chr11:6617013 [GRCh38]
Chr11:6638244 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1045G>C (p.Ala349Pro) single nucleotide variant not provided [RCV002019113] Chr11:6616345 [GRCh38]
Chr11:6637576 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1399C>T (p.Pro467Ser) single nucleotide variant not provided [RCV002036822] Chr11:6615197 [GRCh38]
Chr11:6636428 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.449T>C (p.Val150Ala) single nucleotide variant not provided [RCV001883698] Chr11:6617360 [GRCh38]
Chr11:6638591 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1345T>A (p.Tyr449Asn) single nucleotide variant not provided [RCV001887014] Chr11:6615251 [GRCh38]
Chr11:6636482 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.90-7C>G single nucleotide variant not provided [RCV001952590] Chr11:6618922 [GRCh38]
Chr11:6640153 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1450A>C (p.Ile484Leu) single nucleotide variant not provided [RCV002047710] Chr11:6614967 [GRCh38]
Chr11:6636198 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1621G>A (p.Gly541Ser) single nucleotide variant not provided [RCV001974970] Chr11:6614617 [GRCh38]
Chr11:6635848 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.752T>C (p.Phe251Ser) single nucleotide variant not provided [RCV001904909] Chr11:6616795 [GRCh38]
Chr11:6638026 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.101G>C (p.Gly34Ala) single nucleotide variant not provided [RCV001883024] Chr11:6618904 [GRCh38]
Chr11:6640135 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.177_194del (p.Arg60_Val65del) deletion not provided [RCV001935869] Chr11:6618811..6618828 [GRCh38]
Chr11:6640042..6640059 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1540G>T (p.Gly514Ter) single nucleotide variant not provided [RCV001881725] Chr11:6614877 [GRCh38]
Chr11:6636108 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.493C>T (p.Pro165Ser) single nucleotide variant not provided [RCV001935205] Chr11:6617316 [GRCh38]
Chr11:6638547 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1301C>T (p.Pro434Leu) single nucleotide variant not provided [RCV001973141] Chr11:6615295 [GRCh38]
Chr11:6636526 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1411G>A (p.Val471Met) single nucleotide variant not provided [RCV001880767] Chr11:6615185 [GRCh38]
Chr11:6636416 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1465A>G (p.Asn489Asp) single nucleotide variant not provided [RCV001973531] Chr11:6614952 [GRCh38]
Chr11:6636183 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu) single nucleotide variant not provided [RCV002013814] Chr11:6615521 [GRCh38]
Chr11:6636752 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.421T>C (p.Tyr141His) single nucleotide variant not provided [RCV002010035] Chr11:6617388 [GRCh38]
Chr11:6638619 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1461G>C (p.Leu487Phe) single nucleotide variant not provided [RCV001989473] Chr11:6614956 [GRCh38]
Chr11:6636187 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1471del (p.His491fs) deletion not provided [RCV001989768] Chr11:6614946 [GRCh38]
Chr11:6636177 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.470A>T (p.Tyr157Phe) single nucleotide variant not provided [RCV001904626] Chr11:6617339 [GRCh38]
Chr11:6638570 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.512G>A (p.Gly171Glu) single nucleotide variant not provided [RCV001940789] Chr11:6617150 [GRCh38]
Chr11:6638381 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1565G>A (p.Cys522Tyr) single nucleotide variant not provided [RCV001977725] Chr11:6614673 [GRCh38]
Chr11:6635904 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1148C>T (p.Pro383Leu) single nucleotide variant not provided [RCV001925182] Chr11:6615560 [GRCh38]
Chr11:6636791 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.706C>T (p.His236Tyr) single nucleotide variant not provided [RCV001902994] Chr11:6616841 [GRCh38]
Chr11:6638072 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.817G>T (p.Ala273Ser) single nucleotide variant not provided [RCV002047218] Chr11:6616730 [GRCh38]
Chr11:6637961 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002484574]|not provided [RCV001954827] Chr11:6616005 [GRCh38]
Chr11:6637236 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) single nucleotide variant not provided [RCV002028747]|not specified [RCV003120801] Chr11:6618823 [GRCh38]
Chr11:6640054 [GRCh37]
Chr11:11p15.4
likely pathogenic|uncertain significance
NM_000391.4(TPP1):c.532C>T (p.Pro178Ser) single nucleotide variant not provided [RCV001936431] Chr11:6617130 [GRCh38]
Chr11:6638361 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1087_1088insT (p.Ala363fs) insertion not provided [RCV001939305] Chr11:6616062..6616063 [GRCh38]
Chr11:6637293..6637294 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1614T>A (p.Ser538=) single nucleotide variant not provided [RCV001958139] Chr11:6614624 [GRCh38]
Chr11:6635855 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.13G>T (p.Ala5Ser) single nucleotide variant not provided [RCV001940532] Chr11:6619388 [GRCh38]
Chr11:6640619 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.304T>C (p.Trp102Arg) single nucleotide variant not provided [RCV002013748] Chr11:6617702 [GRCh38]
Chr11:6638933 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1690T>C (p.Ter564Arg) single nucleotide variant not provided [RCV001930912] Chr11:6614548 [GRCh38]
Chr11:6635779 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1558del (p.Arg520fs) deletion not provided [RCV001959015] Chr11:6614680 [GRCh38]
Chr11:6635911 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1425+2T>G single nucleotide variant not provided [RCV002017801] Chr11:6615169 [GRCh38]
Chr11:6636400 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.300A>C (p.Gln100His) single nucleotide variant not provided [RCV001905924] Chr11:6617706 [GRCh38]
Chr11:6638937 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.509T>C (p.Val170Ala) single nucleotide variant not provided [RCV001886150] Chr11:6617153 [GRCh38]
Chr11:6638384 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.52A>T (p.Lys18Ter) single nucleotide variant not provided [RCV001939828] Chr11:6619233 [GRCh38]
Chr11:6640464 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.289C>T (p.His97Tyr) single nucleotide variant not provided [RCV001899009] Chr11:6617717 [GRCh38]
Chr11:6638948 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1592T>C (p.Val531Ala) single nucleotide variant not provided [RCV001971980] Chr11:6614646 [GRCh38]
Chr11:6635877 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.615C>G (p.Ile205Met) single nucleotide variant not provided [RCV001882985] Chr11:6617047 [GRCh38]
Chr11:6638278 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002479451]|not provided [RCV001921566] Chr11:6615317 [GRCh38]
Chr11:6636548 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.955C>T (p.His319Tyr) single nucleotide variant not provided [RCV002026608] Chr11:6616435 [GRCh38]
Chr11:6637666 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.389A>G (p.Glu130Gly) single nucleotide variant not provided [RCV001902001] Chr11:6617420 [GRCh38]
Chr11:6638651 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1186C>T (p.Pro396Ser) single nucleotide variant not provided [RCV001903116] Chr11:6615522 [GRCh38]
Chr11:6636753 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.5G>A (p.Gly2Glu) single nucleotide variant not provided [RCV001921825] Chr11:6619396 [GRCh38]
Chr11:6640627 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1468G>T (p.Glu490Ter) single nucleotide variant not provided [RCV001880756] Chr11:6614949 [GRCh38]
Chr11:6636180 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.312G>A (p.Leu104=) single nucleotide variant not provided [RCV002085559] Chr11:6617694 [GRCh38]
Chr11:6638925 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1455A>G (p.Leu485=) single nucleotide variant not provided [RCV002187772] Chr11:6614962 [GRCh38]
Chr11:6636193 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.210T>C (p.Asp70=) single nucleotide variant not provided [RCV002166628] Chr11:6618795 [GRCh38]
Chr11:6640026 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1023C>T (p.Asn341=) single nucleotide variant not provided [RCV002071286] Chr11:6616367 [GRCh38]
Chr11:6637598 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.117C>T (p.Gly39=) single nucleotide variant not provided [RCV002192099] Chr11:6618888 [GRCh38]
Chr11:6640119 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1506T>C (p.Phe502=) single nucleotide variant not provided [RCV002147914] Chr11:6614911 [GRCh38]
Chr11:6636142 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.906G>A (p.Glu302=) single nucleotide variant not provided [RCV002190386] Chr11:6616484 [GRCh38]
Chr11:6637715 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1426-17C>T single nucleotide variant not provided [RCV002205672] Chr11:6615008 [GRCh38]
Chr11:6636239 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887-15A>G single nucleotide variant not provided [RCV002192346] Chr11:6616518 [GRCh38]
Chr11:6637749 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.63C>T (p.Tyr21=) single nucleotide variant not provided [RCV002192502] Chr11:6619222 [GRCh38]
Chr11:6640453 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.753T>C (p.Phe251=) single nucleotide variant not provided [RCV002190564] Chr11:6616794 [GRCh38]
Chr11:6638025 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.198G>A (p.Gln66=) single nucleotide variant not provided [RCV002106310] Chr11:6618807 [GRCh38]
Chr11:6640038 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887-11A>G single nucleotide variant not provided [RCV002073716] Chr11:6616514 [GRCh38]
Chr11:6637745 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1075+8C>T single nucleotide variant not provided [RCV002189211] Chr11:6616307 [GRCh38]
Chr11:6637538 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.396G>A (p.Leu132=) single nucleotide variant not provided [RCV002105719] Chr11:6617413 [GRCh38]
Chr11:6638644 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1215C>T (p.Asp405=) single nucleotide variant not provided [RCV002166888] Chr11:6615493 [GRCh38]
Chr11:6636724 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1473C>T (p.His491=) single nucleotide variant not provided [RCV002147312] Chr11:6614944 [GRCh38]
Chr11:6636175 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.229+181A>C single nucleotide variant not specified [RCV002246927] Chr11:6618595 [GRCh38]
Chr11:6639826 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.486C>T (p.Ala162=) single nucleotide variant not provided [RCV002188239] Chr11:6617323 [GRCh38]
Chr11:6638554 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1145+13G>A single nucleotide variant not provided [RCV002208319] Chr11:6615992 [GRCh38]
Chr11:6637223 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1260A>G (p.Ser420=) single nucleotide variant not provided [RCV002192580] Chr11:6615448 [GRCh38]
Chr11:6636679 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1266+15G>C single nucleotide variant not provided [RCV002195803] Chr11:6615427 [GRCh38]
Chr11:6636658 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+17A>G single nucleotide variant not provided [RCV002214867] Chr11:6614849 [GRCh38]
Chr11:6636080 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1425+20C>T single nucleotide variant not provided [RCV002153696] Chr11:6615151 [GRCh38]
Chr11:6636382 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.354C>T (p.Asp118=) single nucleotide variant not provided [RCV002076932] Chr11:6617652 [GRCh38]
Chr11:6638883 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.267G>A (p.Val89=) single nucleotide variant not provided [RCV002104329] Chr11:6617739 [GRCh38]
Chr11:6638970 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1491C>G (p.Arg497=) single nucleotide variant not provided [RCV002152495] Chr11:6614926 [GRCh38]
Chr11:6636157 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.949C>T (p.Leu317=) single nucleotide variant not provided [RCV002096919] Chr11:6616441 [GRCh38]
Chr11:6637672 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.534A>G (p.Pro178=) single nucleotide variant not provided [RCV002089778] Chr11:6617128 [GRCh38]
Chr11:6638359 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1266+11T>C single nucleotide variant not provided [RCV002078759] Chr11:6615431 [GRCh38]
Chr11:6636662 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1503C>T (p.Gly501=) single nucleotide variant not provided [RCV002173390] Chr11:6614914 [GRCh38]
Chr11:6636145 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+9A>G single nucleotide variant not provided [RCV002213806] Chr11:6616966 [GRCh38]
Chr11:6638197 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.453A>G (p.Val151=) single nucleotide variant not provided [RCV002211954] Chr11:6617356 [GRCh38]
Chr11:6638587 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1443T>C (p.Phe481=) single nucleotide variant not provided [RCV002150700] Chr11:6614974 [GRCh38]
Chr11:6636205 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.387A>T (p.Ala129=) single nucleotide variant not provided [RCV002173243] Chr11:6617422 [GRCh38]
Chr11:6638653 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1243G>A (p.Val415Met) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002210902] Chr11:6615465 [GRCh38]
Chr11:6636696 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1288_1289dup (p.Leu430_Ser431insTer) duplication not provided [RCV002211176] Chr11:6615306..6615307 [GRCh38]
Chr11:6636537..6636538 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.89+9A>G single nucleotide variant not provided [RCV002147817] Chr11:6619187 [GRCh38]
Chr11:6640418 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.207G>C (p.Ser69=) single nucleotide variant not provided [RCV002114467] Chr11:6618798 [GRCh38]
Chr11:6640029 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.508+9T>G single nucleotide variant not provided [RCV002149667] Chr11:6617292 [GRCh38]
Chr11:6638523 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.240G>C (p.Leu80=) single nucleotide variant not provided [RCV002150214] Chr11:6617766 [GRCh38]
Chr11:6638997 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-13T>A single nucleotide variant not provided [RCV002210834] Chr11:6617789 [GRCh38]
Chr11:6639020 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1145+10C>T single nucleotide variant not provided [RCV002123058] Chr11:6615995 [GRCh38]
Chr11:6637226 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.876C>T (p.Tyr292=) single nucleotide variant not provided [RCV002177371] Chr11:6616671 [GRCh38]
Chr11:6637902 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1362A>T (p.Ala454=) single nucleotide variant not provided [RCV002119792] Chr11:6615234 [GRCh38]
Chr11:6636465 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1485T>C (p.Ser495=) single nucleotide variant not provided [RCV002219043] Chr11:6614932 [GRCh38]
Chr11:6636163 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1200A>G (p.Thr400=) single nucleotide variant not provided [RCV002098486] Chr11:6615508 [GRCh38]
Chr11:6636739 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-11C>T single nucleotide variant not provided [RCV002141956] Chr11:6614697 [GRCh38]
Chr11:6635928 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.150C>T (p.Thr50=) single nucleotide variant not provided [RCV002176410] Chr11:6618855 [GRCh38]
Chr11:6640086 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-6C>T single nucleotide variant not provided [RCV002138592] Chr11:6616865 [GRCh38]
Chr11:6638096 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.810G>C (p.Gly270=) single nucleotide variant not provided [RCV002199315] Chr11:6616737 [GRCh38]
Chr11:6637968 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.564G>A (p.Pro188=) single nucleotide variant not provided [RCV002201518] Chr11:6617098 [GRCh38]
Chr11:6638329 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1146-7C>T single nucleotide variant not provided [RCV002157925] Chr11:6615569 [GRCh38]
Chr11:6636800 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-12C>A single nucleotide variant not provided [RCV002200158] Chr11:6614698 [GRCh38]
Chr11:6635929 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.864C>T (p.Ser288=) single nucleotide variant not provided [RCV002102514] Chr11:6616683 [GRCh38]
Chr11:6637914 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1686C>T (p.Asn562=) single nucleotide variant not provided [RCV002163942] Chr11:6614552 [GRCh38]
Chr11:6635783 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.327G>A (p.Gln109=) single nucleotide variant not provided [RCV002217540] Chr11:6617679 [GRCh38]
Chr11:6638910 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.39C>T (p.Leu13=) single nucleotide variant not provided [RCV002120549] Chr11:6619246 [GRCh38]
Chr11:6640477 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1158C>T (p.Thr386=) single nucleotide variant not provided [RCV002082807] Chr11:6615550 [GRCh38]
Chr11:6636781 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1422C>T (p.Thr474=) single nucleotide variant not provided [RCV002220197] Chr11:6615174 [GRCh38]
Chr11:6636405 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-13A>T single nucleotide variant not provided [RCV002202329] Chr11:6616872 [GRCh38]
Chr11:6638103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+18C>T single nucleotide variant not provided [RCV002082591] Chr11:6616957 [GRCh38]
Chr11:6638188 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.459C>T (p.Ser153=) single nucleotide variant not provided [RCV002178692] Chr11:6617350 [GRCh38]
Chr11:6638581 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.513G>A (p.Gly171=) single nucleotide variant not provided [RCV002121193] Chr11:6617149 [GRCh38]
Chr11:6638380 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.508+7C>T single nucleotide variant not provided [RCV002121409] Chr11:6617294 [GRCh38]
Chr11:6638525 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1145+17A>G single nucleotide variant not provided [RCV002099999] Chr11:6615988 [GRCh38]
Chr11:6637219 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1212T>G (p.Val404=) single nucleotide variant not provided [RCV002177354] Chr11:6615496 [GRCh38]
Chr11:6636727 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.276C>T (p.Ser92=) single nucleotide variant not provided [RCV002156091] Chr11:6617730 [GRCh38]
Chr11:6638961 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-8C>T single nucleotide variant not provided [RCV002104133] Chr11:6616867 [GRCh38]
Chr11:6638098 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1335T>C (p.Ser445=) single nucleotide variant not provided [RCV002219896] Chr11:6615261 [GRCh38]
Chr11:6636492 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+19G>A single nucleotide variant not provided [RCV002102658] Chr11:6614847 [GRCh38]
Chr11:6636078 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.36C>T (p.Ala12=) single nucleotide variant not provided [RCV002144241] Chr11:6619249 [GRCh38]
Chr11:6640480 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.21C>T (p.Leu7=) single nucleotide variant not provided [RCV002182232] Chr11:6619264 [GRCh38]
Chr11:6640495 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.380+11A>G single nucleotide variant not provided [RCV002120867] Chr11:6617615 [GRCh38]
Chr11:6638846 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1545C>G (p.Leu515=) single nucleotide variant not provided [RCV003116693] Chr11:6614872 [GRCh38]
Chr11:6636103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.510G>C (p.Val170=) single nucleotide variant not provided [RCV003112757] Chr11:6617152 [GRCh38]
Chr11:6638383 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.337dup (p.Ser113fs) duplication not provided [RCV003112210] Chr11:6617668..6617669 [GRCh38]
Chr11:6638899..6638900 [GRCh37]
Chr11:11p15.4
pathogenic
NC_000011.9:g.(?_6411829)_(6662844_?)dup duplication not provided [RCV003111159] Chr11:6411829..6662844 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002283983] Chr11:6615540 [GRCh38]
Chr11:6636771 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.68C>G (p.Pro23Arg) single nucleotide variant not provided [RCV002261918] Chr11:6619217 [GRCh38]
Chr11:6640448 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys) single nucleotide variant not provided [RCV002260802] Chr11:6614650 [GRCh38]
Chr11:6635881 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.130G>T (p.Glu44Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002275703] Chr11:6618875 [GRCh38]
Chr11:6640106 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.790C>T (p.Gln264Ter) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV002266274] Chr11:6616757 [GRCh38]
Chr11:6637988 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002287302] Chr11:6616378 [GRCh38]
Chr11:6637609 [GRCh37]
Chr11:11p15.4
likely pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
NM_000391.4(TPP1):c.73C>A (p.Pro25Thr) single nucleotide variant not provided [RCV002290910] Chr11:6619212 [GRCh38]
Chr11:6640443 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.808G>C (p.Gly270Arg) single nucleotide variant Inborn genetic diseases [RCV002419431] Chr11:6616739 [GRCh38]
Chr11:6637970 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.958G>A (p.Val320Met) single nucleotide variant Inborn genetic diseases [RCV002385250] Chr11:6616432 [GRCh38]
Chr11:6637663 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.553C>G (p.Arg185Gly) single nucleotide variant Inborn genetic diseases [RCV002351875] Chr11:6617109 [GRCh38]
Chr11:6638340 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1029G>A (p.Glu343=) single nucleotide variant not provided [RCV002837690] Chr11:6616361 [GRCh38]
Chr11:6637592 [GRCh37]
Chr11:11p15.4
likely benign
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.1190T>G (p.Phe397Cys) single nucleotide variant Inborn genetic diseases [RCV002335562] Chr11:6615518 [GRCh38]
Chr11:6636749 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.238dup (p.Leu80fs) duplication Neuronal ceroid lipofuscinosis 2 [RCV002307077] Chr11:6617767..6617768 [GRCh38]
Chr11:6638998..6638999 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs) microsatellite Neuronal ceroid lipofuscinosis 2 [RCV002308246] Chr11:6615508..6615509 [GRCh38]
Chr11:6636739..6636740 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs) indel Neuronal ceroid lipofuscinosis 2 [RCV002309831] Chr11:6615458..6615460 [GRCh38]
Chr11:6636689..6636691 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1104dup (p.Ser369fs) duplication Neuronal ceroid lipofuscinosis 2 [RCV002308457] Chr11:6616045..6616046 [GRCh38]
Chr11:6637276..6637277 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002310309] Chr11:6617024 [GRCh38]
Chr11:6638255 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002310333] Chr11:6616671 [GRCh38]
Chr11:6637902 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1422C>G (p.Thr474=) single nucleotide variant Inborn genetic diseases [RCV002391841] Chr11:6615174 [GRCh38]
Chr11:6636405 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV002309045] Chr11:6615531..6615532 [GRCh38]
Chr11:6636762..6636763 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs) indel Neuronal ceroid lipofuscinosis 2 [RCV002308023] Chr11:6617736..6617744 [GRCh38]
Chr11:6638967..6638975 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002309059] Chr11:6616486 [GRCh38]
Chr11:6637717 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.17+2T>A single nucleotide variant Inborn genetic diseases [RCV002406305]|not provided [RCV003097138] Chr11:6619382 [GRCh38]
Chr11:6640613 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV002308017] Chr11:6616369..6616370 [GRCh38]
Chr11:6637600..6637601 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.147del (p.Thr50fs) deletion Neuronal ceroid lipofuscinosis 2 [RCV002309845] Chr11:6618858 [GRCh38]
Chr11:6640089 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs) indel Neuronal ceroid lipofuscinosis 2 [RCV002310108] Chr11:6617024..6617026 [GRCh38]
Chr11:6638255..6638257 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002310324] Chr11:6616787 [GRCh38]
Chr11:6638018 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs) indel Neuronal ceroid lipofuscinosis 2 [RCV002306689] Chr11:6615494..6615495 [GRCh38]
Chr11:6636725..6636726 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV002310313] Chr11:6616780 [GRCh38]
Chr11:6638011 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1439T>C (p.Val480Ala) single nucleotide variant not provided [RCV002771211] Chr11:6614978 [GRCh38]
Chr11:6636209 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.24A>G (p.Leu8=) single nucleotide variant not provided [RCV002993791] Chr11:6619261 [GRCh38]
Chr11:6640492 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.18-17del deletion not provided [RCV002881485] Chr11:6619284 [GRCh38]
Chr11:6640515 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1075+12C>A single nucleotide variant not provided [RCV002815750] Chr11:6616303 [GRCh38]
Chr11:6637534 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.415C>T (p.His139Tyr) single nucleotide variant Inborn genetic diseases [RCV002858846] Chr11:6617394 [GRCh38]
Chr11:6638625 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+16A>G single nucleotide variant not provided [RCV002685595] Chr11:6616299 [GRCh38]
Chr11:6637530 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.243C>T (p.Thr81=) single nucleotide variant not provided [RCV002971303] Chr11:6617763 [GRCh38]
Chr11:6638994 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1679_1683del (p.Leu560fs) deletion not provided [RCV003011747] Chr11:6614555..6614559 [GRCh38]
Chr11:6635786..6635790 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.597G>A (p.Gly199=) single nucleotide variant not provided [RCV003034004] Chr11:6617065 [GRCh38]
Chr11:6638296 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1449G>C (p.Gly483=) single nucleotide variant not provided [RCV002690412] Chr11:6614968 [GRCh38]
Chr11:6636199 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.193G>A (p.Val65Met) single nucleotide variant Inborn genetic diseases [RCV003077072]|not provided [RCV003077071] Chr11:6618812 [GRCh38]
Chr11:6640043 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.831G>A (p.Val277=) single nucleotide variant not provided [RCV002996953] Chr11:6616716 [GRCh38]
Chr11:6637947 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1632T>C (p.Pro544=) single nucleotide variant not provided [RCV002815522] Chr11:6614606 [GRCh38]
Chr11:6635837 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1641C>T (p.Gly547=) single nucleotide variant not provided [RCV002819905] Chr11:6614597 [GRCh38]
Chr11:6635828 [GRCh37]
Chr11:11p15.4
likely benign|uncertain significance
NM_000391.4(TPP1):c.408T>C (p.Ala136=) single nucleotide variant not provided [RCV002843557] Chr11:6617401 [GRCh38]
Chr11:6638632 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.922C>T (p.Leu308Phe) single nucleotide variant not provided [RCV003076589] Chr11:6616468 [GRCh38]
Chr11:6637699 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1076-19T>C single nucleotide variant not provided [RCV002755598] Chr11:6616093 [GRCh38]
Chr11:6637324 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.541T>A (p.Ser181Thr) single nucleotide variant not provided [RCV002843814] Chr11:6617121 [GRCh38]
Chr11:6638352 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1425+12C>A single nucleotide variant not provided [RCV003011838] Chr11:6615159 [GRCh38]
Chr11:6636390 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.773C>T (p.Ala258Val) single nucleotide variant not provided [RCV002508501] Chr11:6616774 [GRCh38]
Chr11:6638005 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.259G>A (p.Asp87Asn) single nucleotide variant not provided [RCV002838290] Chr11:6617747 [GRCh38]
Chr11:6638978 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1601A>G (p.Gln534Arg) single nucleotide variant not provided [RCV003014042] Chr11:6614637 [GRCh38]
Chr11:6635868 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1653dup (p.Asn552fs) duplication not provided [RCV003033764] Chr11:6614584..6614585 [GRCh38]
Chr11:6635815..6635816 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1585G>A (p.Glu529Lys) single nucleotide variant not provided [RCV002862946] Chr11:6614653 [GRCh38]
Chr11:6635884 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1217A>C (p.Tyr406Ser) single nucleotide variant not provided [RCV003095722] Chr11:6615491 [GRCh38]
Chr11:6636722 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.89C>T (p.Thr30Met) single nucleotide variant not provided [RCV002815243] Chr11:6619196 [GRCh38]
Chr11:6640427 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1635A>G (p.Val545=) single nucleotide variant not provided [RCV002775170] Chr11:6614603 [GRCh38]
Chr11:6635834 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1157C>G (p.Thr386Ser) single nucleotide variant not provided [RCV002880229] Chr11:6615551 [GRCh38]
Chr11:6636782 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145+15C>A single nucleotide variant not provided [RCV003097654] Chr11:6615990 [GRCh38]
Chr11:6637221 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.917del (p.Gln306fs) deletion not provided [RCV002843100] Chr11:6616473 [GRCh38]
Chr11:6637704 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1228G>T (p.Gly410Cys) single nucleotide variant not provided [RCV002843300] Chr11:6615480 [GRCh38]
Chr11:6636711 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.229+18G>A single nucleotide variant not provided [RCV002948012] Chr11:6618758 [GRCh38]
Chr11:6639989 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.488T>C (p.Leu163Ser) single nucleotide variant not provided [RCV002819111] Chr11:6617321 [GRCh38]
Chr11:6638552 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1146-4T>C single nucleotide variant not provided [RCV002863010] Chr11:6615566 [GRCh38]
Chr11:6636797 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1129A>T (p.Thr377Ser) single nucleotide variant not provided [RCV003016216] Chr11:6616021 [GRCh38]
Chr11:6637252 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.399C>T (p.Leu133=) single nucleotide variant not provided [RCV003017318] Chr11:6617410 [GRCh38]
Chr11:6638641 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser) single nucleotide variant not provided [RCV003039592] Chr11:6614635 [GRCh38]
Chr11:6635866 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.605C>A (p.Pro202His) single nucleotide variant not provided [RCV002871575] Chr11:6617057 [GRCh38]
Chr11:6638288 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.905A>G (p.Glu302Gly) single nucleotide variant Inborn genetic diseases [RCV002708030] Chr11:6616485 [GRCh38]
Chr11:6637716 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1287C>T (p.Phe429=) single nucleotide variant not provided [RCV003003098] Chr11:6615309 [GRCh38]
Chr11:6636540 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.37C>G (p.Leu13Val) single nucleotide variant not provided [RCV002848135] Chr11:6619248 [GRCh38]
Chr11:6640479 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.28C>A (p.Leu10Ile) single nucleotide variant not provided [RCV002848244] Chr11:6619257 [GRCh38]
Chr11:6640488 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.520_524del (p.His174fs) deletion not provided [RCV003037658] Chr11:6617138..6617142 [GRCh38]
Chr11:6638369..6638373 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.849T>C (p.Ala283=) single nucleotide variant not provided [RCV002571141] Chr11:6616698 [GRCh38]
Chr11:6637929 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.426G>A (p.Val142=) single nucleotide variant not provided [RCV003019278] Chr11:6617383 [GRCh38]
Chr11:6638614 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-9C>T single nucleotide variant not provided [RCV003038158] Chr11:6616083 [GRCh38]
Chr11:6637314 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+10G>A single nucleotide variant not provided [RCV002847464] Chr11:6616965 [GRCh38]
Chr11:6638196 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1380G>C (p.Trp460Cys) single nucleotide variant not provided [RCV002591249] Chr11:6615216 [GRCh38]
Chr11:6636447 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.192G>T (p.Leu64=) single nucleotide variant not provided [RCV002847530] Chr11:6618813 [GRCh38]
Chr11:6640044 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.508+19A>T single nucleotide variant not provided [RCV002953026] Chr11:6617282 [GRCh38]
Chr11:6638513 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.803G>C (p.Arg268Pro) single nucleotide variant not provided [RCV003036448] Chr11:6616744 [GRCh38]
Chr11:6637975 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.96C>G (p.Pro32=) single nucleotide variant not provided [RCV002889341] Chr11:6618909 [GRCh38]
Chr11:6640140 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-9C>G single nucleotide variant not provided [RCV002927383] Chr11:6616083 [GRCh38]
Chr11:6637314 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-8C>G single nucleotide variant not provided [RCV002846512] Chr11:6617161 [GRCh38]
Chr11:6638392 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.28C>G (p.Leu10Val) single nucleotide variant not provided [RCV002909754] Chr11:6619257 [GRCh38]
Chr11:6640488 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.528T>C (p.Phe176=) single nucleotide variant not provided [RCV002885425] Chr11:6617134 [GRCh38]
Chr11:6638365 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1425G>C (p.Ser475=) single nucleotide variant not provided [RCV002735224] Chr11:6615171 [GRCh38]
Chr11:6636402 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.423T>C (p.Tyr141=) single nucleotide variant not provided [RCV003037724] Chr11:6617386 [GRCh38]
Chr11:6638617 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.123G>T (p.Ala41=) single nucleotide variant not provided [RCV002637255] Chr11:6618882 [GRCh38]
Chr11:6640113 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1477_1478dup (p.Leu494fs) duplication not provided [RCV002796678] Chr11:6614938..6614939 [GRCh38]
Chr11:6636169..6636170 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.471C>T (p.Tyr157=) single nucleotide variant not provided [RCV002638591] Chr11:6617338 [GRCh38]
Chr11:6638569 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.501G>A (p.Val167=) single nucleotide variant not provided [RCV002796055] Chr11:6617308 [GRCh38]
Chr11:6638539 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1531C>T (p.His511Tyr) single nucleotide variant not provided [RCV003036710] Chr11:6614886 [GRCh38]
Chr11:6636117 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1513C>T (p.Pro505Ser) single nucleotide variant not provided [RCV003038170] Chr11:6614904 [GRCh38]
Chr11:6636135 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.188A>T (p.Glu63Val) single nucleotide variant not provided [RCV003078712] Chr11:6618817 [GRCh38]
Chr11:6640048 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1490del (p.Arg497fs) deletion not provided [RCV003019268] Chr11:6614927 [GRCh38]
Chr11:6636158 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1590G>A (p.Glu530=) single nucleotide variant not provided [RCV002886319] Chr11:6614648 [GRCh38]
Chr11:6635879 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.606dup (p.Ser203fs) duplication not provided [RCV003059760] Chr11:6617055..6617056 [GRCh38]
Chr11:6638286..6638287 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.284C>T (p.Thr95Ile) single nucleotide variant not provided [RCV002790830] Chr11:6617722 [GRCh38]
Chr11:6638953 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1075+17_1075+24del deletion not provided [RCV002982698] Chr11:6616291..6616298 [GRCh38]
Chr11:6637522..6637529 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1540G>C (p.Gly514Arg) single nucleotide variant not provided [RCV002701303] Chr11:6614877 [GRCh38]
Chr11:6636108 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.146_155del (p.Leu49fs) deletion not provided [RCV002932752] Chr11:6618850..6618859 [GRCh38]
Chr11:6640081..6640090 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1551+16A>C single nucleotide variant not provided [RCV002871953] Chr11:6614850 [GRCh38]
Chr11:6636081 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.590A>G (p.His197Arg) single nucleotide variant not provided [RCV002626770] Chr11:6617072 [GRCh38]
Chr11:6638303 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145+2T>C single nucleotide variant not provided [RCV002791596] Chr11:6616003 [GRCh38]
Chr11:6637234 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.30C>T (p.Leu10=) single nucleotide variant not provided [RCV003007257] Chr11:6619255 [GRCh38]
Chr11:6640486 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-13G>C single nucleotide variant not provided [RCV002766344] Chr11:6614699 [GRCh38]
Chr11:6635930 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.474G>T (p.Gln158His) single nucleotide variant not provided [RCV002801133] Chr11:6617335 [GRCh38]
Chr11:6638566 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-10G>A single nucleotide variant not provided [RCV003007484] Chr11:6619277 [GRCh38]
Chr11:6640508 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.887G>A (p.Gly296Asp) single nucleotide variant Inborn genetic diseases [RCV002875222] Chr11:6616503 [GRCh38]
Chr11:6637734 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1124G>A (p.Arg375His) single nucleotide variant not provided [RCV003085831] Chr11:6616026 [GRCh38]
Chr11:6637257 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.690C>T (p.Phe230=) single nucleotide variant not provided [RCV002872444] Chr11:6616857 [GRCh38]
Chr11:6638088 [GRCh37]
Chr11:11p15.4
likely benign
NC_000011.10:g.6618916del deletion not provided [RCV003005583] Chr11:6618915 [GRCh38]
Chr11:6640146 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1146-15G>A single nucleotide variant not provided [RCV003056950] Chr11:6615577 [GRCh38]
Chr11:6636808 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.501G>C (p.Val167=) single nucleotide variant not provided [RCV003024490] Chr11:6617308 [GRCh38]
Chr11:6638539 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.925A>G (p.Met309Val) single nucleotide variant not provided [RCV003083330] Chr11:6616465 [GRCh38]
Chr11:6637696 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.587T>G (p.Leu196Arg) single nucleotide variant not provided [RCV002852390] Chr11:6617075 [GRCh38]
Chr11:6638306 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.723T>C (p.Ala241=) single nucleotide variant not provided [RCV003057934] Chr11:6616824 [GRCh38]
Chr11:6638055 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1331C>T (p.Ala444Val) single nucleotide variant not provided [RCV002624853] Chr11:6615265 [GRCh38]
Chr11:6636496 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1179C>T (p.Phe393=) single nucleotide variant not provided [RCV003007964] Chr11:6615529 [GRCh38]
Chr11:6636760 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1092G>C (p.Gly364=) single nucleotide variant not provided [RCV003005189] Chr11:6616058 [GRCh38]
Chr11:6637289 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1652C>G (p.Pro551Arg) single nucleotide variant not provided [RCV003057935] Chr11:6614586 [GRCh38]
Chr11:6635817 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.175_195del (p.Glu59_Val65del) deletion not provided [RCV002894037] Chr11:6618810..6618830 [GRCh38]
Chr11:6640041..6640061 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1436C>T (p.Pro479Leu) single nucleotide variant not provided [RCV002667919] Chr11:6614981 [GRCh38]
Chr11:6636212 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.381-17_381-4del deletion not provided [RCV003058285] Chr11:6617432..6617445 [GRCh38]
Chr11:6638663..6638676 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.603C>T (p.Thr201=) single nucleotide variant not provided [RCV002626156] Chr11:6617059 [GRCh38]
Chr11:6638290 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.886+4C>T single nucleotide variant not provided [RCV003085005] Chr11:6616657 [GRCh38]
Chr11:6637888 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1641C>G (p.Gly547=) single nucleotide variant not provided [RCV002802221] Chr11:6614597 [GRCh38]
Chr11:6635828 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.509-7C>T single nucleotide variant not provided [RCV002626305] Chr11:6617160 [GRCh38]
Chr11:6638391 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1591G>A (p.Val531Ile) single nucleotide variant not provided [RCV003084144] Chr11:6614647 [GRCh38]
Chr11:6635878 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1232G>T (p.Gly411Val) single nucleotide variant not provided [RCV003056084] Chr11:6615476 [GRCh38]
Chr11:6636707 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1438G>A (p.Val480Met) single nucleotide variant not provided [RCV003058627] Chr11:6614979 [GRCh38]
Chr11:6636210 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.617del (p.Arg206fs) deletion not provided [RCV002644536] Chr11:6617045 [GRCh38]
Chr11:6638276 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.614T>C (p.Ile205Thr) single nucleotide variant not provided [RCV002700969] Chr11:6617048 [GRCh38]
Chr11:6638279 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1145+6T>C single nucleotide variant not provided [RCV002852478] Chr11:6615999 [GRCh38]
Chr11:6637230 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1452C>T (p.Ile484=) single nucleotide variant not provided [RCV002894539] Chr11:6614965 [GRCh38]
Chr11:6636196 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.702T>G (p.Tyr234Ter) single nucleotide variant not provided [RCV002801638] Chr11:6616845 [GRCh38]
Chr11:6638076 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.9C>G (p.Leu3=) single nucleotide variant not provided [RCV002851248] Chr11:6619392 [GRCh38]
Chr11:6640623 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1163T>C (p.Val388Ala) single nucleotide variant not provided [RCV002938451] Chr11:6615545 [GRCh38]
Chr11:6636776 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.515G>A (p.Gly172Glu) single nucleotide variant not provided [RCV002580756] Chr11:6617147 [GRCh38]
Chr11:6638378 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1670T>C (p.Leu557Pro) single nucleotide variant not provided [RCV003049341] Chr11:6614568 [GRCh38]
Chr11:6635799 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.48T>C (p.Ser16=) single nucleotide variant not provided [RCV002856854] Chr11:6619237 [GRCh38]
Chr11:6640468 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1545C>T (p.Leu515=) single nucleotide variant not provided [RCV003048922] Chr11:6614872 [GRCh38]
Chr11:6636103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.69G>C (p.Pro23=) single nucleotide variant not provided [RCV002676021] Chr11:6619216 [GRCh38]
Chr11:6640447 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.990C>T (p.Asp330=) single nucleotide variant not provided [RCV002599823] Chr11:6616400 [GRCh38]
Chr11:6637631 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1637C>T (p.Thr546Ile) single nucleotide variant not provided [RCV002578893] Chr11:6614601 [GRCh38]
Chr11:6635832 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1157C>T (p.Thr386Ile) single nucleotide variant not provided [RCV003011337] Chr11:6615551 [GRCh38]
Chr11:6636782 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.436A>T (p.Thr146Ser) single nucleotide variant not provided [RCV002672200] Chr11:6617373 [GRCh38]
Chr11:6638604 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.365G>T (p.Cys122Phe) single nucleotide variant not provided [RCV002791659] Chr11:6617641 [GRCh38]
Chr11:6638872 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.68C>A (p.Pro23Gln) single nucleotide variant not provided [RCV003088010] Chr11:6619217 [GRCh38]
Chr11:6640448 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.984T>A (p.Asp328Glu) single nucleotide variant not provided [RCV002716962] Chr11:6616406 [GRCh38]
Chr11:6637637 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.508+8C>T single nucleotide variant not provided [RCV002578771] Chr11:6617293 [GRCh38]
Chr11:6638524 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.221C>T (p.Pro74Leu) single nucleotide variant Inborn genetic diseases [RCV003031069]|not provided [RCV003008522] Chr11:6618784 [GRCh38]
Chr11:6640015 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.380G>T (p.Arg127Leu) single nucleotide variant not provided [RCV002627615] Chr11:6617626 [GRCh38]
Chr11:6638857 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.204G>A (p.Val68=) single nucleotide variant not provided [RCV003044236] Chr11:6618801 [GRCh38]
Chr11:6640032 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr) single nucleotide variant not provided [RCV003062332] Chr11:6614625 [GRCh38]
Chr11:6635856 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.74C>T (p.Pro25Leu) single nucleotide variant not provided [RCV002835298] Chr11:6619211 [GRCh38]
Chr11:6640442 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1062G>A (p.Leu354=) single nucleotide variant not provided [RCV002832882] Chr11:6616328 [GRCh38]
Chr11:6637559 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1156A>C (p.Thr386Pro) single nucleotide variant not provided [RCV002962330] Chr11:6615552 [GRCh38]
Chr11:6636783 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1039G>C (p.Ala347Pro) single nucleotide variant not provided [RCV002670764] Chr11:6616351 [GRCh38]
Chr11:6637582 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1303C>A (p.His435Asn) single nucleotide variant not provided [RCV002670778] Chr11:6615293 [GRCh38]
Chr11:6636524 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1633G>T (p.Val545Leu) single nucleotide variant not provided [RCV003047977] Chr11:6614605 [GRCh38]
Chr11:6635836 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1076-13del deletion not provided [RCV003065526] Chr11:6616087 [GRCh38]
Chr11:6637318 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.966del (p.Thr322_Val323insTer) deletion not provided [RCV002832791] Chr11:6616424 [GRCh38]
Chr11:6637655 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.226T>C (p.Tyr76His) single nucleotide variant not provided [RCV003092336] Chr11:6618779 [GRCh38]
Chr11:6640010 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.550C>T (p.Gln184Ter) single nucleotide variant not provided [RCV003052135] Chr11:6617112 [GRCh38]
Chr11:6638343 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.114G>C (p.Leu38=) single nucleotide variant not provided [RCV002653122] Chr11:6618891 [GRCh38]
Chr11:6640122 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-17C>T single nucleotide variant not provided [RCV002634893] Chr11:6617793 [GRCh38]
Chr11:6639024 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.128C>T (p.Pro43Leu) single nucleotide variant not provided [RCV003049493] Chr11:6618877 [GRCh38]
Chr11:6640108 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.28C>T (p.Leu10Phe) single nucleotide variant not provided [RCV003050111] Chr11:6619257 [GRCh38]
Chr11:6640488 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.623G>A (p.Arg208Gln) single nucleotide variant Inborn genetic diseases [RCV003162036]|not provided [RCV002633460] Chr11:6617039 [GRCh38]
Chr11:6638270 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.489G>C (p.Leu163Phe) single nucleotide variant not provided [RCV002942981] Chr11:6617320 [GRCh38]
Chr11:6638551 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.152T>C (p.Phe51Ser) single nucleotide variant not provided [RCV003070359] Chr11:6618853 [GRCh38]
Chr11:6640084 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.789A>G (p.Gln263=) single nucleotide variant not provided [RCV002942509] Chr11:6616758 [GRCh38]
Chr11:6637989 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.646G>A (p.Val216Met) single nucleotide variant Neuronal ceroid lipofuscinosis [RCV003230767]|not provided [RCV003069412] Chr11:6617016 [GRCh38]
Chr11:6638247 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.772G>C (p.Ala258Pro) single nucleotide variant not provided [RCV003072069] Chr11:6616775 [GRCh38]
Chr11:6638006 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1681C>T (p.Leu561Phe) single nucleotide variant Inborn genetic diseases [RCV003384320]|not provided [RCV003067655] Chr11:6614557 [GRCh38]
Chr11:6635788 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1399C>G (p.Pro467Ala) single nucleotide variant not provided [RCV002588516] Chr11:6615197 [GRCh38]
Chr11:6636428 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.635C>T (p.Thr212Ile) single nucleotide variant not provided [RCV002613140] Chr11:6617027 [GRCh38]
Chr11:6638258 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.18-19C>G single nucleotide variant not provided [RCV002611197] Chr11:6619286 [GRCh38]
Chr11:6640517 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.613A>G (p.Ile205Val) single nucleotide variant not provided [RCV003051678] Chr11:6617049 [GRCh38]
Chr11:6638280 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.230-11A>T single nucleotide variant not provided [RCV002610294] Chr11:6617787 [GRCh38]
Chr11:6639018 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.119G>T (p.Arg40Leu) single nucleotide variant not provided [RCV002612306] Chr11:6618886 [GRCh38]
Chr11:6640117 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.89+12T>C single nucleotide variant not provided [RCV003066183] Chr11:6619184 [GRCh38]
Chr11:6640415 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.13G>A (p.Ala5Thr) single nucleotide variant not provided [RCV002588098] Chr11:6619388 [GRCh38]
Chr11:6640619 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1425+1G>A single nucleotide variant not provided [RCV003131758] Chr11:6615170 [GRCh38]
Chr11:6636401 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.436A>G (p.Thr146Ala) single nucleotide variant Inborn genetic diseases [RCV003199866] Chr11:6617373 [GRCh38]
Chr11:6638604 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.373A>G (p.Ser125Gly) single nucleotide variant Inborn genetic diseases [RCV003199449] Chr11:6617633 [GRCh38]
Chr11:6638864 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1351G>A (p.Asp451Asn) single nucleotide variant not provided [RCV003141136] Chr11:6615245 [GRCh38]
Chr11:6636476 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.545T>C (p.Leu182Pro) single nucleotide variant not provided [RCV003141137] Chr11:6617117 [GRCh38]
Chr11:6638348 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1334G>A (p.Ser445Asn) single nucleotide variant not provided [RCV003141138] Chr11:6615262 [GRCh38]
Chr11:6636493 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.295G>A (p.Val99Met) single nucleotide variant not provided [RCV003141139] Chr11:6617711 [GRCh38]
Chr11:6638942 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.230-2A>G single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV003226105] Chr11:6617778 [GRCh38]
Chr11:6639009 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.889C>G (p.Arg297Gly) single nucleotide variant Inborn genetic diseases [RCV003286456] Chr11:6616501 [GRCh38]
Chr11:6637732 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro) single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV003340778] Chr11:6614559 [GRCh38]
Chr11:6635790 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.30C>G (p.Leu10=) single nucleotide variant not provided [RCV003543133] Chr11:6619255 [GRCh38]
Chr11:6640486 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1075+9C>T single nucleotide variant not provided [RCV003570093] Chr11:6616306 [GRCh38]
Chr11:6637537 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+15G>A single nucleotide variant not provided [RCV003570803] Chr11:6616960 [GRCh38]
Chr11:6638191 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.382C>T (p.Gln128Ter) single nucleotide variant not provided [RCV003571752] Chr11:6617427 [GRCh38]
Chr11:6638658 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.957T>C (p.His319=) single nucleotide variant not provided [RCV003570595] Chr11:6616433 [GRCh38]
Chr11:6637664 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1467T>C (p.Asn489=) single nucleotide variant not provided [RCV003569163] Chr11:6614950 [GRCh38]
Chr11:6636181 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1194C>G (p.Leu398=) single nucleotide variant not provided [RCV003571088] Chr11:6615514 [GRCh38]
Chr11:6636745 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+17G>T single nucleotide variant not provided [RCV003571319] Chr11:6616958 [GRCh38]
Chr11:6638189 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.273A>G (p.Pro91=) single nucleotide variant not provided [RCV003569933] Chr11:6617733 [GRCh38]
Chr11:6638964 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.285C>T (p.Thr95=) single nucleotide variant not provided [RCV003543661] Chr11:6617721 [GRCh38]
Chr11:6638952 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA indel Neuronal ceroid lipofuscinosis 2 [RCV003388905] Chr11:6615441..6615442 [GRCh38]
Chr11:6636672..6636673 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.86G>A (p.Arg29Lys) single nucleotide variant not provided [RCV003482001] Chr11:6619199 [GRCh38]
Chr11:6640430 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.1450dup (p.Ile484fs) duplication Neuronal ceroid lipofuscinosis 2 [RCV003388907] Chr11:6614966..6614967 [GRCh38]
Chr11:6636197..6636198 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.419del (p.His140fs) deletion not provided [RCV003691431] Chr11:6617390 [GRCh38]
Chr11:6638621 [GRCh37]
Chr11:11p15.4
pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4
pathogenic
NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs) indel Neuronal ceroid lipofuscinosis 2 [RCV003388906] Chr11:6618821..6618823 [GRCh38]
Chr11:6640052..6640054 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.90-22_90-16dup duplication not provided [RCV003572288] Chr11:6618930..6618931 [GRCh38]
Chr11:6640161..6640162 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.24A>C (p.Leu8=) single nucleotide variant not provided [RCV003739020] Chr11:6619261 [GRCh38]
Chr11:6640492 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.17+13G>C single nucleotide variant not provided [RCV003578861] Chr11:6619371 [GRCh38]
Chr11:6640602 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+18G>A single nucleotide variant not provided [RCV003696651] Chr11:6614848 [GRCh38]
Chr11:6636079 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.496dup (p.His166fs) duplication not provided [RCV003577107] Chr11:6617312..6617313 [GRCh38]
Chr11:6638543..6638544 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1076-4T>C single nucleotide variant not provided [RCV003696515] Chr11:6616078 [GRCh38]
Chr11:6637309 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.288_289dup (p.His97fs) duplication not provided [RCV003578400] Chr11:6617716..6617717 [GRCh38]
Chr11:6638947..6638948 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.900A>T (p.Gly300=) single nucleotide variant not provided [RCV003740341] Chr11:6616490 [GRCh38]
Chr11:6637721 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1146-17C>T single nucleotide variant not provided [RCV003828547] Chr11:6615579 [GRCh38]
Chr11:6636810 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1398G>T (p.Val466=) single nucleotide variant not provided [RCV003692823] Chr11:6615198 [GRCh38]
Chr11:6636429 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.380+19T>C single nucleotide variant not provided [RCV003577974] Chr11:6617607 [GRCh38]
Chr11:6638838 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1167A>T (p.Gly389=) single nucleotide variant not provided [RCV003577010] Chr11:6615541 [GRCh38]
Chr11:6636772 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1011C>T (p.Ile337=) single nucleotide variant not provided [RCV003693797] Chr11:6616379 [GRCh38]
Chr11:6637610 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1367C>A (p.Ser456Tyr) single nucleotide variant not specified [RCV003488822] Chr11:6615229 [GRCh38]
Chr11:6636460 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.229+16G>A single nucleotide variant not provided [RCV003875721] Chr11:6618760 [GRCh38]
Chr11:6639991 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.886+15A>G single nucleotide variant not provided [RCV003687108] Chr11:6616646 [GRCh38]
Chr11:6637877 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.492C>T (p.Ala164=) single nucleotide variant not provided [RCV003577375] Chr11:6617317 [GRCh38]
Chr11:6638548 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1083T>C (p.Ser361=) single nucleotide variant not provided [RCV003544666] Chr11:6616067 [GRCh38]
Chr11:6637298 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.806_810del (p.Ala269fs) microsatellite not provided [RCV003576283] Chr11:6616737..6616741 [GRCh38]
Chr11:6637968..6637972 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.1545C>A (p.Leu515=) single nucleotide variant not provided [RCV003577154] Chr11:6614872 [GRCh38]
Chr11:6636103 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.230-6C>T single nucleotide variant not provided [RCV003694897] Chr11:6617782 [GRCh38]
Chr11:6639013 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.886+9A>G single nucleotide variant not provided [RCV003689540] Chr11:6616652 [GRCh38]
Chr11:6637883 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.688-16C>A single nucleotide variant not provided [RCV003577337] Chr11:6616875 [GRCh38]
Chr11:6638106 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1491C>T (p.Arg497=) single nucleotide variant not provided [RCV003574572] Chr11:6614926 [GRCh38]
Chr11:6636157 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1146-17C>G single nucleotide variant not provided [RCV003661485] Chr11:6615579 [GRCh38]
Chr11:6636810 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1145+19C>G single nucleotide variant not provided [RCV003689141] Chr11:6615986 [GRCh38]
Chr11:6637217 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.933C>T (p.Leu311=) single nucleotide variant not provided [RCV003879169] Chr11:6616457 [GRCh38]
Chr11:6637688 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1266+20T>A single nucleotide variant not provided [RCV003663344] Chr11:6615422 [GRCh38]
Chr11:6636653 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1575C>A (p.Ser525=) single nucleotide variant not provided [RCV003660076] Chr11:6614663 [GRCh38]
Chr11:6635894 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1245G>A (p.Val415=) single nucleotide variant not provided [RCV003686995] Chr11:6615463 [GRCh38]
Chr11:6636694 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1076-11G>T single nucleotide variant not provided [RCV003692225] Chr11:6616085 [GRCh38]
Chr11:6637316 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1146-199G>A single nucleotide variant Neuronal ceroid lipofuscinosis 2 [RCV003486538] Chr11:6615761 [GRCh38]
Chr11:6636992 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.351G>A (p.Gln117=) single nucleotide variant not provided [RCV003572548] Chr11:6617655 [GRCh38]
Chr11:6638886 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.9C>T (p.Leu3=) single nucleotide variant not provided [RCV003546137] Chr11:6619392 [GRCh38]
Chr11:6640623 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+1del deletion not provided [RCV003687384] Chr11:6614865 [GRCh38]
Chr11:6636096 [GRCh37]
Chr11:11p15.4
pathogenic
NM_000391.4(TPP1):c.246A>G (p.Leu82=) single nucleotide variant not provided [RCV003691869] Chr11:6617760 [GRCh38]
Chr11:6638991 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1401C>T (p.Pro467=) single nucleotide variant not provided [RCV003687698] Chr11:6615195 [GRCh38]
Chr11:6636426 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.747C>A (p.Gly249=) single nucleotide variant not provided [RCV003688481] Chr11:6616800 [GRCh38]
Chr11:6638031 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1518G>A (p.Arg506=) single nucleotide variant not provided [RCV003692416] Chr11:6614899 [GRCh38]
Chr11:6636130 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1425+17C>T single nucleotide variant not provided [RCV003713829] Chr11:6615154 [GRCh38]
Chr11:6636385 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.291C>T (p.His97=) single nucleotide variant not provided [RCV003547921] Chr11:6617715 [GRCh38]
Chr11:6638946 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.960G>A (p.Val320=) single nucleotide variant not provided [RCV003825006] Chr11:6616430 [GRCh38]
Chr11:6637661 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1075+8C>A single nucleotide variant not provided [RCV003714061] Chr11:6616307 [GRCh38]
Chr11:6637538 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+2T>A single nucleotide variant not provided [RCV003692849] Chr11:6616973 [GRCh38]
Chr11:6638204 [GRCh37]
Chr11:11p15.4
likely pathogenic
NM_000391.4(TPP1):c.1425+13C>G single nucleotide variant not provided [RCV003692877] Chr11:6615158 [GRCh38]
Chr11:6636389 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.508+9T>A single nucleotide variant not provided [RCV003713926] Chr11:6617292 [GRCh38]
Chr11:6638523 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1623C>T (p.Gly541=) single nucleotide variant not provided [RCV003572215] Chr11:6614615 [GRCh38]
Chr11:6635846 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.90-17G>C single nucleotide variant not provided [RCV003545420] Chr11:6618932 [GRCh38]
Chr11:6640163 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.993C>A (p.Ser331=) single nucleotide variant not provided [RCV003548055] Chr11:6616397 [GRCh38]
Chr11:6637628 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1416C>A (p.Ser472=) single nucleotide variant not provided [RCV003688303] Chr11:6615180 [GRCh38]
Chr11:6636411 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.201T>C (p.Ala67=) single nucleotide variant not provided [RCV003715912] Chr11:6618804 [GRCh38]
Chr11:6640035 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.378C>T (p.Ile126=) single nucleotide variant not provided [RCV003665269] Chr11:6617628 [GRCh38]
Chr11:6638859 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.837C>T (p.Tyr279=) single nucleotide variant not provided [RCV003580414] Chr11:6616710 [GRCh38]
Chr11:6637941 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1551+12A>G single nucleotide variant not provided [RCV003580411] Chr11:6614854 [GRCh38]
Chr11:6636085 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1188T>C (p.Pro396=) single nucleotide variant not provided [RCV003580586] Chr11:6615520 [GRCh38]
Chr11:6636751 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1314A>G (p.Pro438=) single nucleotide variant not provided [RCV003580697] Chr11:6615282 [GRCh38]
Chr11:6636513 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1255C>G (p.Pro419Ala) single nucleotide variant not provided [RCV003811376] Chr11:6615453 [GRCh38]
Chr11:6636684 [GRCh37]
Chr11:11p15.4
uncertain significance
NM_000391.4(TPP1):c.987G>A (p.Glu329=) single nucleotide variant not provided [RCV003658961] Chr11:6616403 [GRCh38]
Chr11:6637634 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.282G>C (p.Leu94=) single nucleotide variant not provided [RCV003740457] Chr11:6617724 [GRCh38]
Chr11:6638955 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.89+15C>T single nucleotide variant not provided [RCV003659019] Chr11:6619181 [GRCh38]
Chr11:6640412 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.687+19C>T single nucleotide variant not provided [RCV003548170] Chr11:6616956 [GRCh38]
Chr11:6638187 [GRCh37]
Chr11:11p15.4
likely benign
NM_000391.4(TPP1):c.1552-13G>A single nucleotide variant not provided [RCV003697141] Chr11:6614699 [GRCh38]
Chr11:6635930 [GRCh37]
Chr11:11p15.4
likely benign
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.

Markers in Region
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


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
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000299427   ⟹   ENSP00000299427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,768 - 6,619,422 (-)Ensembl
RefSeq Acc Id: ENST00000428886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,617,062 - 6,619,372 (-)Ensembl
RefSeq Acc Id: ENST00000436873   ⟹   ENSP00000398136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,615,322 - 6,618,808 (-)Ensembl
RefSeq Acc Id: ENST00000524611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,782 - 6,615,455 (-)Ensembl
RefSeq Acc Id: ENST00000524788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,599 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000524903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,512 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000524924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,614,601 - 6,616,269 (-)Ensembl
RefSeq Acc Id: ENST00000528571   ⟹   ENSP00000434647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,617,208 - 6,619,403 (-)Ensembl
RefSeq Acc Id: ENST00000528657   ⟹   ENSP00000435001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,618,215 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000528807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,544 - 6,617,464 (-)Ensembl
RefSeq Acc Id: ENST00000528917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,617,748 - 6,619,421 (-)Ensembl
RefSeq Acc Id: ENST00000530040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,423 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000531754   ⟹   ENSP00000493706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,618,057 - 6,619,448 (-)Ensembl
RefSeq Acc Id: ENST00000533371   ⟹   ENSP00000437066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,772 - 6,619,396 (-)Ensembl
RefSeq Acc Id: ENST00000534644
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,975 - 6,619,401 (-)Ensembl
RefSeq Acc Id: ENST00000642892   ⟹   ENSP00000494165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,784 - 6,619,353 (-)Ensembl
RefSeq Acc Id: ENST00000643342   ⟹   ENSP00000494324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,613,304 - 6,616,479 (-)Ensembl
RefSeq Acc Id: ENST00000643439   ⟹   ENSP00000495849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,858 - 6,619,448 (-)Ensembl
RefSeq Acc Id: ENST00000643479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,784 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000643516   ⟹   ENSP00000496372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,832 - 6,618,891 (-)Ensembl
RefSeq Acc Id: ENST00000644151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,650 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000644218   ⟹   ENSP00000493574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,786 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644683   ⟹   ENSP00000494085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,876 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644810   ⟹   ENSP00000495895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,782 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000644831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,794 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000644933   ⟹   ENSP00000496133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,912 - 6,619,381 (-)Ensembl
RefSeq Acc Id: ENST00000645020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,616,547 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000645285   ⟹   ENSP00000495058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,784 - 6,619,381 (-)Ensembl
RefSeq Acc Id: ENST00000645331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,794 - 6,619,422 (-)Ensembl
RefSeq Acc Id: ENST00000645620   ⟹   ENSP00000493657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,801 - 6,619,369 (-)Ensembl
RefSeq Acc Id: ENST00000646691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,843 - 6,616,482 (-)Ensembl
RefSeq Acc Id: ENST00000646777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,784 - 6,619,429 (-)Ensembl
RefSeq Acc Id: ENST00000647016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,968 - 6,618,338 (-)Ensembl
RefSeq Acc Id: ENST00000647152   ⟹   ENSP00000495893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,809 - 6,619,409 (-)Ensembl
RefSeq Acc Id: ENST00000647209   ⟹   ENSP00000495558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,613,033 - 6,619,413 (-)Ensembl
RefSeq Acc Id: ENST00000647346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl116,612,976 - 6,619,421 (-)Ensembl
RefSeq Acc Id: ENST00000682424   ⟹   ENSP00000507321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.0116,671,236 - 6,677,889 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000382 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB80725 (Get FASTA)   NCBI Sequence Viewer  
  AAC98480 (Get FASTA)   NCBI Sequence Viewer  
  AAH14863 (Get FASTA)   NCBI Sequence Viewer  
  AAQ72732 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88866 (Get FASTA)   NCBI Sequence Viewer  
  BAD96219 (Get FASTA)   NCBI Sequence Viewer  
  BAD96258 (Get FASTA)   NCBI Sequence Viewer  
  BAG35305 (Get FASTA)   NCBI Sequence Viewer  
  BAG57000 (Get FASTA)   NCBI Sequence Viewer  
  BAG57164 (Get FASTA)   NCBI Sequence Viewer  
  BAG58620 (Get FASTA)   NCBI Sequence Viewer  
  BAG61604 (Get FASTA)   NCBI Sequence Viewer  
  BAG62617 (Get FASTA)   NCBI Sequence Viewer  
  BAG64389 (Get FASTA)   NCBI Sequence Viewer  
  CAH05560 (Get FASTA)   NCBI Sequence Viewer  
  EAW68685 (Get FASTA)   NCBI Sequence Viewer  
  EAW68686 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000299427
  ENSP00000299427.6
  ENSP00000398136.3
  ENSP00000434647.1
  ENSP00000435001.1
  ENSP00000437066.1
  ENSP00000493574.1
  ENSP00000493657.1
  ENSP00000493706.1
  ENSP00000494085.1
  ENSP00000494165.1
  ENSP00000494324.1
  ENSP00000495058.1
  ENSP00000495558.1
  ENSP00000495849.1
  ENSP00000495893.1
  ENSP00000495895.1
  ENSP00000496133.1
  ENSP00000496372.1
  ENSP00000507321.1
GenBank Protein O14773 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000382   ⟸   NM_000391
- Peptide Label: preproprotein
- UniProtKB: Q71JP6 (UniProtKB/Swiss-Prot),   Q6UX56 (UniProtKB/Swiss-Prot),   Q5JAK6 (UniProtKB/Swiss-Prot),   Q53HT1 (UniProtKB/Swiss-Prot),   Q96C37 (UniProtKB/Swiss-Prot),   O14773 (UniProtKB/Swiss-Prot),   B2R608 (UniProtKB/TrEMBL)
- 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 Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14773-F1-model_v2 AlphaFold O14773 1-563 view protein structure

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

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 Transcript ENST00000299427 ENTREZGENE
  ENST00000299427.12 UniProtKB/Swiss-Prot
  ENST00000436873.7 UniProtKB/TrEMBL
  ENST00000528571.6 UniProtKB/TrEMBL
  ENST00000528657.2 UniProtKB/TrEMBL
  ENST00000531754.2 UniProtKB/TrEMBL
  ENST00000533371.6 UniProtKB/Swiss-Prot
  ENST00000642892.1 UniProtKB/Swiss-Prot
  ENST00000643342.1 UniProtKB/TrEMBL
  ENST00000643439.1 UniProtKB/TrEMBL
  ENST00000643516.1 UniProtKB/TrEMBL
  ENST00000644218.1 UniProtKB/TrEMBL
  ENST00000644683.1 UniProtKB/TrEMBL
  ENST00000644810.1 UniProtKB/TrEMBL
  ENST00000644933.1 UniProtKB/TrEMBL
  ENST00000645285.1 UniProtKB/TrEMBL
  ENST00000645620.1 UniProtKB/Swiss-Prot
  ENST00000647152.1 UniProtKB/Swiss-Prot
  ENST00000647209.1 UniProtKB/TrEMBL
  ENST00000682424.1 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 607998 OMIM
PANTHER PROTEASE S8 TRIPEPTIDYL PEPTIDASE I CLN2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRIPEPTIDYL-PEPTIDASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 Protease propeptides/inhibitors UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
  A0A804HJ17_HUMAN UniProtKB/TrEMBL
  B2R608 ENTREZGENE, UniProtKB/TrEMBL
  E7EV34_HUMAN UniProtKB/TrEMBL
  E9PME9_HUMAN UniProtKB/TrEMBL
  E9PPA4_HUMAN UniProtKB/TrEMBL
  O14773 ENTREZGENE
  Q53HT1 ENTREZGENE
  Q5JAK6 ENTREZGENE
  Q6UX56 ENTREZGENE
  Q71JP6 ENTREZGENE
  Q96C37 ENTREZGENE
  TPP1_HUMAN 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  TPP1  tripeptidyl peptidase I  Symbol and/or name change 5135510 APPROVED