GRN (granulin precursor) - Rat Genome Database

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Gene: GRN (granulin precursor) Homo sapiens
Analyze
Symbol: GRN
Name: granulin precursor
RGD ID: 1345254
HGNC Page HGNC
Description: Exhibits chaperone binding activity. Involved in several processes, including lysosomal lumen acidification; negative regulation of respiratory burst involved in inflammatory response; and positive regulation of lysosome organization. Localizes to several cellular components, including Golgi apparatus; late endosome; and lysosomal membrane. Implicated in dementia (multiple); neurodegenerative disease (multiple); and neuronal ceroid lipofuscinosis 11. Biomarker of Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; atherosclerosis; autistic disorder; bipolar disorder; and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acrogranin; CLN11; epithelin; GEP; glycoprotein 88; glycoprotein of 88 Kda; GP88; granulin; granulin-epithelin; granulins; PC cell-derived growth factor; PCDGF; PEPI; PGRN; proepithelin; progranulin
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,129 - 42,666,150 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-methylcholine  (EXP)
3',5'-cyclic AMP  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
astaxanthin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) adipate  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butyric acid  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
chlorogenic acid  (EXP)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cycloheximide  (EXP)
cyclosporin A  (EXP)
cyproconazole  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
felbamate  (ISO)
fenamidone  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (ISO)
hypochlorous acid  (ISO)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
LY294002  (ISO)
menadione  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
Osajin  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
Pomiferin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
selenium atom  (EXP)
sodium arsenite  (EXP)
Soman  (ISO)
sulindac  (EXP)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP,ISO)
wortmannin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
astrocyte activation involved in immune response  (ISS)
blastocyst hatching  (ISO)
chondrocyte proliferation  (ISO)
embryo implantation  (ISO)
locomotory exploration behavior  (ISO)
lysosomal lumen acidification  (IMP)
lysosomal protein catabolic process  (ISO)
lysosomal transport  (IMP,ISS)
lysosome organization  (ISS)
male mating behavior  (ISO)
microglial cell activation involved in immune response  (ISS)
negative regulation of hydrolase activity  (ISO)
negative regulation of inflammatory response  (ISO)
negative regulation of innate immune response  (ISO)
negative regulation of microglial cell activation  (ISS)
negative regulation of neuron apoptotic process  (IDA)
negative regulation of neutrophil activation  (IDA)
negative regulation of respiratory burst involved in inflammatory response  (IDA)
neural precursor cell proliferation  (ISO)
neutrophil degranulation  (TAS)
positive regulation of angiogenesis  (ISS)
positive regulation of aspartic-type peptidase activity  (IMP,ISS)
positive regulation of axon regeneration  (ISS)
positive regulation of cell migration  (IMP)
positive regulation of cell population proliferation  (ISO)
positive regulation of defense response to bacterium  (ISS)
positive regulation of dendritic spine development  (ISO)
positive regulation of endothelial cell migration  (ISS)
positive regulation of epithelial cell proliferation  (IDA,ISO)
positive regulation of inflammatory response to wounding  (ISS)
positive regulation of lysosome organization  (IDA)
positive regulation of neuron apoptotic process  (ISS)
positive regulation of neuron projection development  (ISO)
positive regulation of protein folding  (ISS)
protein stabilization  (IMP)
regulation of inflammatory response  (IBA)
regulation of lysosome organization  (ISO)
response to estradiol  (ISO)
retina development in camera-type eye  (ISO)
signal transduction  (NAS)
synaptic vesicle endocytosis  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abnormality of the cerebral white matter  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Anomia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Brain atrophy  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cognitive impairment  (IAGP)
Collectionism  (IAGP)
Dementia  (IAGP)
Depressivity  (IAGP)
Dilation of lateral ventricles  (IAGP)
Disinhibition  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Dysphasia  (IAGP)
Echolalia  (IAGP)
EEG abnormality  (IAGP)
EEG with continuous slow activity  (IAGP)
Emotional blunting  (IAGP)
Fasciculations  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gliosis  (IAGP)
Grammar-specific speech disorder  (IAGP)
Hallucinations  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Hypersexuality  (IAGP)
Inappropriate behavior  (IAGP)
Irritability  (IAGP)
Ischemic stroke  (IAGP)
Lack of insight  (IAGP)
Lewy bodies  (IAGP)
Loss of speech  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Motor aphasia  (IAGP)
Mutism  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Optic atrophy  (IAGP)
Parkinsonism  (IAGP)
Perseveration  (IAGP)
Personality changes  (IAGP)
Polyphagia  (IAGP)
Poor speech  (IAGP)
Progressive language deterioration  (IAGP)
Psychosis  (IAGP)
Rapidly progressive  (IAGP)
Repetitive compulsive behavior  (IAGP)
Restlessness  (IAGP)
Restrictive behavior  (IAGP)
Retinal dystrophy  (IAGP)
Rigidity  (IAGP)
Seizure  (IAGP)
Senile plaques  (IAGP)
Spoken Word Recognition Deficit  (IAGP)
Stereotypy  (IAGP)
Stroke  (IAGP)
Temporal cortical atrophy  (IAGP)
Thickened nuchal skin fold  (IAGP)
Tremor  (IAGP)
Upper motor neuron dysfunction  (IAGP)
Visual agnosia  (IAGP)
Visual impairment  (IAGP)
References

References - curated
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6. Chiang HH, etal., Alzheimers Dement. 2008 Nov;4(6):414-20.
7. Cruchaga C, etal., Arch Neurol. 2011 May;68(5):581-6. Epub 2011 Jan 10.
8. Dickson DW, etal., Neurodegener Dis. 2010;7(1-3):170-4. Epub 2010 Mar 3.
9. Egashira Y, etal., J Neuroinflammation. 2013 Aug 23;10:105. doi: 10.1186/1742-2094-10-105.
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14. GOA_HUMAN data from the GO Consortium
15. Jasinska-Myga B, etal., Eur J Neurol. 2009 Aug;16(8):909-11. doi: 10.1111/j.1468-1331.2009.02621.x. Epub 2009 Mar 31.
16. Kelley BJ, etal., Arch Neurol. 2010 Feb;67(2):171-7.
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21. Mukherjee O, etal., Ann Neurol. 2006 Sep;60(3):314-22.
22. Naphade SB, etal., Acta Neuropathol. 2010 Jan;119(1):123-33. Epub 2009 Nov 28.
23. OMIM Disease Annotation Pipeline
24. Pereson S, etal., J Pathol. 2009 Oct;219(2):173-81.
25. Philips T, etal., J Neuropathol Exp Neurol. 2010 Dec;69(12):1191-200.
26. Pickering-Brown SM, etal., Brain. 2008 Mar;131(Pt 3):721-31. doi: 10.1093/brain/awm331. Epub 2008 Jan 11.
27. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. RGD automated import pipeline for gene-chemical interactions
29. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Skoglund L, etal., Neurogenetics. 2009 Feb;10(1):27-34. Epub 2008 Oct 15.
31. Sleegers K, etal., Neurology. 2008 Jul 22;71(4):253-9. Epub 2008 Jan 9.
32. Tang W, etal., Science. 2011 Apr 22;332(6028):478-84. Epub 2011 Mar 10.
33. Vercellino M, etal., Mult Scler. 2011 Oct;17(10):1194-201. Epub 2011 May 25.
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35. Zhu S, etal., Brain Res. 2013 Sep 12;1530:54-65. doi: 10.1016/j.brainres.2013.07.023. Epub 2013 Jul 22.
Additional References at PubMed
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PMID:28823651   PMID:28828399   PMID:28903038   PMID:29036611   PMID:29039535   PMID:29044416   PMID:29116422   PMID:29146050   PMID:29176029   PMID:29180619   PMID:29226876   PMID:29230494  
PMID:29396296   PMID:29398357   PMID:29480174   PMID:29530724   PMID:29568061   PMID:29615496   PMID:29676528   PMID:29717106   PMID:29735542   PMID:29740434   PMID:29754471   PMID:29845934  
PMID:29866109   PMID:29872149   PMID:29874572   PMID:29889066   PMID:29892012   PMID:29984158   PMID:29992506   PMID:30010122   PMID:30060789   PMID:30151059   PMID:30187338   PMID:30196744  
PMID:30229554   PMID:30268392   PMID:30369339   PMID:30378010   PMID:30454027   PMID:30475763   PMID:30482868   PMID:30530405   PMID:30545478   PMID:30599136   PMID:30778852   PMID:30782973  
PMID:30921613   PMID:31044454   PMID:31102282   PMID:31262553   PMID:31285425   PMID:31291241   PMID:31361008   PMID:31361391   PMID:31376286   PMID:31469472   PMID:31484831   PMID:31491449  
PMID:31492495   PMID:31515488   PMID:31534059   PMID:31585000   PMID:31626287   PMID:31713081   PMID:31818769   PMID:31855245   PMID:31864418   PMID:31870439   PMID:31980649   PMID:32006270  
PMID:32129710   PMID:32296183   PMID:32344399   PMID:32474861   PMID:32526197   PMID:32759310   PMID:32769115   PMID:32814053   PMID:33112398   PMID:33433870  


Genomics

Comparative Map Data
GRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBI
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,129 - 42,666,150 (+)NCBICHM1_1
Grn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,321,333 - 102,327,635 (+)NCBIGRCm39mm39
GRCm39 Ensembl11102,321,141 - 102,327,874 (+)Ensembl
GRCm3811102,430,507 - 102,436,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,430,315 - 102,437,048 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711102,291,636 - 102,298,123 (+)NCBIGRCm37mm9NCBIm37
MGSCv3611102,246,597 - 102,252,895 (+)NCBImm8
Celera11114,140,482 - 114,146,970 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1166.29NCBI
Grn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21087,387,672 - 87,393,777 (+)NCBI
Rnor_6.0 Ensembl1090,376,933 - 90,383,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01090,377,103 - 90,383,207 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01090,165,634 - 90,171,738 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,536,135 - 91,542,239 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11091,552,883 - 91,556,599 (+)NCBI
Celera1086,096,583 - 86,102,687 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Grn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,368,428 - 17,372,377 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,368,600 - 17,371,981 (+)NCBIChiLan1.0ChiLan1.0
GRN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11713,211,784 - 13,219,793 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,211,784 - 13,219,609 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01713,046,329 - 13,054,236 (-)NCBIMhudiblu_PPA_v0panPan3
GRN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,077,430 - 19,085,443 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,077,427 - 19,082,268 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha918,467,174 - 18,474,620 (-)NCBI
ROS_Cfam_1.0919,771,801 - 19,779,240 (-)NCBI
UMICH_Zoey_3.1918,625,608 - 18,633,045 (-)NCBI
UNSW_CanFamBas_1.0918,808,582 - 18,816,025 (-)NCBI
UU_Cfam_GSD_1.0918,952,849 - 18,960,290 (-)NCBI
Grn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,390,156 - 18,401,106 (-)NCBI
SpeTri2.0NW_004936541793,548 - 800,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,893,770 - 18,900,446 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,893,772 - 18,900,444 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,212,414 - 19,216,283 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GRN
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,037,344 - 62,045,765 (-)NCBI
ChlSab1.1 Ensembl1662,036,412 - 62,045,614 (-)Ensembl
Grn
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624795704,066 - 708,721 (-)NCBI

Position Markers
G54019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,156 - 42,430,268UniSTSGRCh37
Build 361739,785,682 - 39,785,794RGDNCBI36
Celera1739,139,781 - 39,139,893RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,439 - 38,194,551UniSTS
D17S1701  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,328 - 42,430,457UniSTSGRCh37
Build 361739,785,854 - 39,785,983RGDNCBI36
Celera1739,139,953 - 39,140,082RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,611 - 38,194,740UniSTS
STS-T54360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,265 - 42,430,458UniSTSGRCh37
Build 361739,785,791 - 39,785,984RGDNCBI36
Celera1739,139,890 - 39,140,083RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,548 - 38,194,741UniSTS
GeneMap99-GB4 RH Map17320.18UniSTS
NCBI RH Map17564.8UniSTS
STS-X62320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,430,261 - 42,430,456UniSTSGRCh37
Build 361739,785,787 - 39,785,982RGDNCBI36
Celera1739,139,886 - 39,140,081RGD
Cytogenetic Map17q21.32UniSTS
HuRef1738,194,544 - 38,194,739UniSTS
GeneMap99-GB4 RH Map17322.36UniSTS
NCBI RH Map17559.7UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR107hsa-miR-107Mirtarbaseexternal_infoMicroarray//Western blotFunctional MTI20884628
MIR107hsa-miR-107Mirtarbaseexternal_infoReporter assay;Western blot;MicroarrayFunctional MTI20489155
MIR29B1hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI20479936
MIR659hsa-miR-659-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18723524
MIR659hsa-miR-659-5pMirecordsexternal_infoNANA18723524
MIR29B2hsa-miR-29b-3pMirtarbaseexternal_infoELISA//Luciferase reporter assay//qRT-PCR//WesternFunctional MTI20479936

Predicted Target Of
Summary Value
Count of predictions:7219
Count of miRNA genes:1074
Interacting mature miRNAs:1381
Transcripts:ENST00000053867, ENST00000585348, ENST00000585512, ENST00000586242, ENST00000586443, ENST00000586782, ENST00000587109, ENST00000587387, ENST00000587518, ENST00000587958, ENST00000588143, ENST00000588170, ENST00000588237, ENST00000589265, ENST00000589536, ENST00000589923, ENST00000590984, ENST00000591740, ENST00000592323, ENST00000592783, ENST00000593167
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 6 20 21 6 4 52 16
Medium 2426 2953 1717 619 1918 461 4348 2186 3511 413 1395 1592 171 1204 2787 4
Low 11 6 3 9 3 1 7 197 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY124489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC336362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M75161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000053867   ⟹   ENSP00000053867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,353,106 (+)Ensembl
RefSeq Acc Id: ENST00000585348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,911 - 44,351,599 (+)Ensembl
RefSeq Acc Id: ENST00000585512   ⟹   ENSP00000467745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,349,275 (+)Ensembl
RefSeq Acc Id: ENST00000586242   ⟹   ENSP00000467837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,352,202 - 44,353,102 (+)Ensembl
RefSeq Acc Id: ENST00000586443   ⟹   ENSP00000465673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,539 - 44,353,043 (+)Ensembl
RefSeq Acc Id: ENST00000586782   ⟹   ENSP00000468318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,314 - 44,351,163 (+)Ensembl
RefSeq Acc Id: ENST00000587109   ⟹   ENSP00000466271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,265 - 44,349,474 (+)Ensembl
RefSeq Acc Id: ENST00000587387   ⟹   ENSP00000467431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,511 (+)Ensembl
RefSeq Acc Id: ENST00000587518   ⟹   ENSP00000465518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,265 - 44,350,287 (+)Ensembl
RefSeq Acc Id: ENST00000587958
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,306 - 44,349,811 (+)Ensembl
RefSeq Acc Id: ENST00000588143   ⟹   ENSP00000465375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,282 - 44,350,469 (+)Ensembl
RefSeq Acc Id: ENST00000588170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,246 - 44,349,894 (+)Ensembl
RefSeq Acc Id: ENST00000588237   ⟹   ENSP00000466611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,351,044 (+)Ensembl
RefSeq Acc Id: ENST00000589265   ⟹   ENSP00000467616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,305 - 44,353,082 (+)Ensembl
RefSeq Acc Id: ENST00000589536   ⟹   ENSP00000466956
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,262 - 44,349,736 (+)Ensembl
RefSeq Acc Id: ENST00000589923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,772 - 44,351,795 (+)Ensembl
RefSeq Acc Id: ENST00000590984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,350,289 - 44,351,300 (+)Ensembl
RefSeq Acc Id: ENST00000591740   ⟹   ENSP00000467022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,283 (+)Ensembl
RefSeq Acc Id: ENST00000592323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,349,789 (+)Ensembl
RefSeq Acc Id: ENST00000592783   ⟹   ENSP00000467870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,302 - 44,350,304 (+)Ensembl
RefSeq Acc Id: ENST00000593167   ⟹   ENSP00000466405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,345,298 - 44,350,325 (+)Ensembl
RefSeq Acc Id: ENST00000639447   ⟹   ENSP00000492014
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1744,349,165 - 44,352,795 (+)Ensembl
RefSeq Acc Id: NM_002087   ⟹   NP_002078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,345,302 - 44,353,106 (+)NCBI
GRCh371742,422,491 - 42,430,474 (+)NCBI
Build 361739,778,017 - 39,785,996 (+)NCBI Archive
HuRef1738,186,768 - 38,194,753 (+)ENTREZGENE
CHM1_11742,658,129 - 42,666,150 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005257253   ⟹   XP_005257310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,345,312 - 44,353,106 (+)NCBI
GRCh371742,422,491 - 42,430,474 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450730   ⟹   XP_024306498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,345,615 - 44,353,106 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002078   ⟸   NM_002087
- Peptide Label: precursor
- UniProtKB: P28799 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005257310   ⟸   XM_005257253
- Peptide Label: isoform X1
- UniProtKB: P28799 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306498   ⟸   XM_024450730
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000467745   ⟸   ENST00000585512
RefSeq Acc Id: ENSP00000492014   ⟸   ENST00000639447
RefSeq Acc Id: ENSP00000467837   ⟸   ENST00000586242
RefSeq Acc Id: ENSP00000468318   ⟸   ENST00000586782
RefSeq Acc Id: ENSP00000465673   ⟸   ENST00000586443
RefSeq Acc Id: ENSP00000466271   ⟸   ENST00000587109
RefSeq Acc Id: ENSP00000465518   ⟸   ENST00000587518
RefSeq Acc Id: ENSP00000467431   ⟸   ENST00000587387
RefSeq Acc Id: ENSP00000466611   ⟸   ENST00000588237
RefSeq Acc Id: ENSP00000465375   ⟸   ENST00000588143
RefSeq Acc Id: ENSP00000467616   ⟸   ENST00000589265
RefSeq Acc Id: ENSP00000466956   ⟸   ENST00000589536
RefSeq Acc Id: ENSP00000467022   ⟸   ENST00000591740
RefSeq Acc Id: ENSP00000467870   ⟸   ENST00000592783
RefSeq Acc Id: ENSP00000053867   ⟸   ENST00000053867
RefSeq Acc Id: ENSP00000466405   ⟸   ENST00000593167
Protein Domains
GRANULINS

Promoters
RGD ID:6794189
Promoter ID:HG_KWN:26317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000357351,   ENST00000393566,   NM_002087
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,777,969 - 39,778,469 (+)MPROMDB
RGD ID:6852512
Promoter ID:EP74068
Type:initiation region
Name:HS_GRN
Description:Granulin.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,778,176 - 39,778,236EPD
RGD ID:6794206
Promoter ID:HG_KWN:26318
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002IGQ.1,   UC002IGR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,781,256 - 39,782,627 (+)MPROMDB
RGD ID:7235269
Promoter ID:EPDNEW_H23380
Type:initiation region
Name:GRN_1
Description:granulin precursor
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
GRCh381744,345,302 - 44,345,362EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_002087.3(GRN):c.592_593del (p.Arg198fs) deletion not provided [RCV000518697] Chr17:44350571..44350572 [GRCh38]
Chr17:42427939..42427940 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1465_1469dup (p.Lys491fs) duplication not provided [RCV000517701] Chr17:44352391..44352392 [GRCh38]
Chr17:42429759..42429760 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1072C>T (p.Gln358Ter) single nucleotide variant not provided [RCV000517776] Chr17:44351688 [GRCh38]
Chr17:42429056 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) single nucleotide variant Seizures [RCV000718489]|not provided [RCV000983946]|not specified [RCV000518609] Chr17:44352758 [GRCh38]
Chr17:42430126 [GRCh37]
Chr17:17q21.31
benign|likely benign|uncertain significance
NM_002087.3(GRN):c.53C>T (p.Thr18Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764130]|not provided [RCV000521954] Chr17:44349217 [GRCh38]
Chr17:42426585 [GRCh37]
Chr17:17q21.31
uncertain significance
GRN, IVS6AS, G-A, -1 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000022595] Chr17:17q21.32 pathogenic
GRN, IVS0DS, G-C, +5 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017379] Chr17:17q21.32 pathogenic
NM_002087.3(GRN):c.93_96dup (p.Asp33fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017383] Chr17:44349253..44349254 [GRCh38]
Chr17:42426621..42426622 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.388_391del (p.Gln130fs) deletion Frontotemporal dementia [RCV000736253]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017384]|not provided [RCV000084442] Chr17:44350263..44350266 [GRCh38]
Chr17:42427631..42427634 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.3(GRN):c.835+1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017385] Chr17:44351164 [GRCh38]
Chr17:42428532 [GRCh37]
Chr17:17q21.31
pathogenic
GRN, 1-BP DEL, 998G deletion Primary progressive aphasia [RCV000017388] Chr17:17q21.32 pathogenic
GRN, 1-BP INS, 1145A insertion Frontotemporal dementia, ubiquitin-positive [RCV000017389] Chr17:17q21.32 pathogenic
GRN, IVS7AS, A-G, -2 single nucleotide variant Primary progressive aphasia [RCV000017390] Chr17:17q21.32 pathogenic
GRN, 2-BP DEL, 675CA deletion Primary progressive aphasia [RCV000017391] Chr17:17q21.32 pathogenic
GRN, IVS6AS, A-G, -2 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017392] Chr17:17q21.32 pathogenic
GRN, 1-BP DEL, 102C deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017395] Chr17:17q21.32 pathogenic
GRN, 1-BP DEL, 154A deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017396] Chr17:17q21.32 pathogenic
NM_002087.4(GRN):c.25del (p.Ala9fs) deletion not provided [RCV001291567] Chr17:44349188 [GRCh38]
Chr17:42426556 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1083_1084GA[2] (p.Asp363fs) microsatellite Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000778498] Chr17:44351698..44351699 [GRCh38]
Chr17:42429066..42429067 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.898C>T (p.Gln300Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218285]|not provided [RCV000517994] Chr17:44351425 [GRCh38]
Chr17:42428793 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.6G>A (p.Trp2Ter) single nucleotide variant not provided [RCV000516487] Chr17:44349170 [GRCh38]
Chr17:42426538 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.933+7del deletion not provided [RCV000559099] Chr17:44351467 [GRCh38]
Chr17:42428835 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1414-2A>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650260]|not provided [RCV000516768] Chr17:44352339 [GRCh38]
Chr17:42429707 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.-56T>G single nucleotide variant not specified [RCV000517810] Chr17:44345286 [GRCh38]
Chr17:42422654 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.705C>A (p.Pro235=) single nucleotide variant not provided [RCV000874915]|not specified [RCV000517062] Chr17:44350797 [GRCh38]
Chr17:42428165 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.599-1G>A single nucleotide variant not provided [RCV000516967] Chr17:44350690 [GRCh38]
Chr17:42428058 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.4(GRN):c.*78C>T single nucleotide variant FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO [RCV000022594]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000353944]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650262]|Ischemic stroke, susceptibility to [RCV000791344] Chr17:44352876 [GRCh38]
Chr17:42430244 [GRCh37]
Chr17:17q21.31
risk factor|affects|benign
NM_002087.4(GRN):c.373C>T (p.Gln125Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017380]|not provided [RCV000084439] Chr17:44350251 [GRCh38]
Chr17:42427619 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.2T>C (p.Met1Thr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017381]|not provided [RCV000084419] Chr17:44349166 [GRCh38]
Chr17:42426534 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.3G>A (p.Met1Ile) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017382]|not provided [RCV000084420] Chr17:44349167 [GRCh38]
Chr17:42426535 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.26C>A (p.Ala9Asp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017386]|not provided [RCV000084421] Chr17:44349190 [GRCh38]
Chr17:42426558 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017387]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001039647]|not provided [RCV000084491] Chr17:44352404 [GRCh38]
Chr17:42429772 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.3(GRN):c.813_816del (p.Thr272fs) deletion Ceroid lipofuscinosis, neuronal, 11 [RCV000029169]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017393]|Primary progressive aphasia [RCV000017394]|not provided [RCV000084585] Chr17:44351139..44351142 [GRCh38]
Chr17:42428507..42428510 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 copy number loss See cases [RCV000053429] Chr17:43570878..44762377 [GRCh38]
Chr17:41648246..42839745 [GRCh37]
Chr17:39003772..40195271 [NCBI36]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.923C>T (p.Pro308Leu) single nucleotide variant Malignant melanoma [RCV000071508] Chr17:44351450 [GRCh38]
Chr17:42428818 [GRCh37]
Chr17:39784344 [NCBI36]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.467C>T (p.Ser156Phe) single nucleotide variant Malignant melanoma [RCV000063228] Chr17:44350446 [GRCh38]
Chr17:42427814 [GRCh37]
Chr17:39783340 [NCBI36]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017389]|not provided [RCV000084472] Chr17:44351759..44351760 [GRCh38]
Chr17:42429127..42429128 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.3(GRN):c.1395dup (p.Cys466fs) duplication not provided [RCV000084486] Chr17:44352228..44352229 [GRCh38]
Chr17:42429596..42429597 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.-8+3A>T single nucleotide variant not provided [RCV000084417] Chr17:44345337 [GRCh38]
Chr17:42422705 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.-8+5G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089936]|not provided [RCV000084418] Chr17:44345339 [GRCh38]
Chr17:42422707 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576325]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079864]|Seizures [RCV000715766]|not provided [RCV000084422]|not specified [RCV000246460] Chr17:44349219 [GRCh38]
Chr17:42426587 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.4(GRN):c.63_64insC (p.Asp22fs) insertion not provided [RCV000084423] Chr17:44349227..44349228 [GRCh38]
Chr17:42426595..42426596 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.87_90dup (p.Cys31fs) duplication not provided [RCV000084424] Chr17:44349248..44349249 [GRCh38]
Chr17:42426616..42426617 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.99C>T (p.Asp33=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576806]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001080696]|Seizures [RCV000716976]|not provided [RCV000084425]|not specified [RCV000243797] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.4(GRN):c.102C>T (p.Pro34=) single nucleotide variant not provided [RCV000084426] Chr17:44349266 [GRCh38]
Chr17:42426634 [GRCh37]
Chr17:17q21.31
conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002087.3(GRN):c.102del (p.Gly35fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001241659]|not provided [RCV000084427] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.138+1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001049316]|not provided [RCV000084428] Chr17:44349303 [GRCh38]
Chr17:42426671 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.3(GRN):c.154del (p.Thr52fs) deletion not provided [RCV000084429] Chr17:44349440 [GRCh38]
Chr17:42426808 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.158T>C (p.Leu53Pro) single nucleotide variant not provided [RCV000084430] Chr17:44349445 [GRCh38]
Chr17:42426813 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.243del (p.Ser82fs) deletion not provided [RCV000084431] Chr17:44349529 [GRCh38]
Chr17:42426897 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.264G>A (p.Glu88=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995779]|not provided [RCV000084432] Chr17:44349551 [GRCh38]
Chr17:42426919 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.279G>A (p.Gly93=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079794]|not provided [RCV000084433] Chr17:44349681 [GRCh38]
Chr17:42427049 [GRCh37]
Chr17:17q21.31
likely benign|not provided
NM_002087.4(GRN):c.313T>C (p.Cys105Arg) single nucleotide variant not provided [RCV000084434] Chr17:44349715 [GRCh38]
Chr17:42427083 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.317G>A (p.Ser106Asn) single nucleotide variant not provided [RCV000084435] Chr17:44349719 [GRCh38]
Chr17:42427087 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) single nucleotide variant Ceroid lipofuscinosis, neuronal, 11 [RCV001291777]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000767861]|not provided [RCV000084436] Chr17:44349730 [GRCh38]
Chr17:42427098 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086038]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125933]|not provided [RCV000084437] Chr17:44350237 [GRCh38]
Chr17:42427605 [GRCh37]
Chr17:17q21.31
benign|likely benign|uncertain significance|not provided
NM_002087.3(GRN):c.361del (p.Val121fs) deletion not provided [RCV000084438] Chr17:44350239 [GRCh38]
Chr17:42427607 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.384T>C (p.Asp128=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000280623]|Seizures [RCV000715184]|not provided [RCV000084440]|not specified [RCV000251569] Chr17:44350262 [GRCh38]
Chr17:42427630 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.3(GRN):c.384_387del (p.Gln130fs) deletion not provided [RCV000084441] Chr17:44350262..44350265 [GRCh38]
Chr17:42427630..42427633 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.2(GRN):c.388_391delCAGT (p.Gln130Serfs) deletion not provided [RCV000084442] Chr17:44350266..44350269 [GRCh38]
Chr17:42427634..42427637 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.421G>A (p.Val141Ile) single nucleotide variant not provided [RCV000084443] Chr17:44350299 [GRCh38]
Chr17:42427667 [GRCh37]
Chr17:17q21.31
likely benign|not provided
NM_002087.4(GRN):c.463-1G>A single nucleotide variant not provided [RCV000084444] Chr17:44350441 [GRCh38]
Chr17:42427809 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.468_474del (p.Cys157fs) deletion not provided [RCV000084445] Chr17:44350447..44350453 [GRCh38]
Chr17:42427815..42427821 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) single nucleotide variant not provided [RCV000084446] Chr17:44350452 [GRCh38]
Chr17:42427820 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.545C>T (p.Thr182Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000295460]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001089192]|Seizures [RCV000720066]|not provided [RCV000084447] Chr17:44350524 [GRCh38]
Chr17:42427892 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.4(GRN):c.635G>A (p.Arg212Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000815880]|not provided [RCV000084448] Chr17:44350727 [GRCh38]
Chr17:42428095 [GRCh37]
Chr17:17q21.31
uncertain significance|not provided
NM_002087.4(GRN):c.658A>T (p.Thr220Ser) single nucleotide variant not provided [RCV000084449] Chr17:44350750 [GRCh38]
Chr17:42428118 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.698C>A (p.Pro233Gln) single nucleotide variant Seizures [RCV000720499]|not provided [RCV000084450] Chr17:44350790 [GRCh38]
Chr17:42428158 [GRCh37]
Chr17:17q21.31
uncertain significance|not provided
NM_002087.4(GRN):c.708C>T (p.Asn236=) single nucleotide variant not provided [RCV000084451] Chr17:44350800 [GRCh38]
Chr17:42428168 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.708+1G>C single nucleotide variant not provided [RCV000084452] Chr17:44350801 [GRCh38]
Chr17:42428169 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.709-2A>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000704513]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995784]|not provided [RCV000084453] Chr17:44351035 [GRCh38]
Chr17:42428403 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.743C>T (p.Pro248Leu) single nucleotide variant not provided [RCV000084454] Chr17:44351071 [GRCh38]
Chr17:42428439 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) microsatellite Frontotemporal dementia [RCV000736250]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995785]|not provided [RCV000084455] Chr17:44351081..44351082 [GRCh38]
Chr17:42428449..42428450 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.773G>A (p.Ser258Asn) single nucleotide variant not provided [RCV000084456] Chr17:44351101 [GRCh38]
Chr17:42428469 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.781C>A (p.Leu261Ile) single nucleotide variant not provided [RCV000084457] Chr17:44351109 [GRCh38]
Chr17:42428477 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.804G>A (p.Thr268=) single nucleotide variant not provided [RCV000084458] Chr17:44351132 [GRCh38]
Chr17:42428500 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.835_835+1insCTGA insertion not provided [RCV000084459] Chr17:44351163..44351164 [GRCh38]
Chr17:42428531..42428532 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.836-1G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000699101]|not provided [RCV000084460] Chr17:44351362 [GRCh38]
Chr17:42428730 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.861G>C (p.Glu287Asp) single nucleotide variant not provided [RCV000084461] Chr17:44351388 [GRCh38]
Chr17:42428756 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.903G>A (p.Ser301=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086995]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128036]|Seizures [RCV000720880]|not provided [RCV000084462]|not specified [RCV000516232] Chr17:44351430 [GRCh38]
Chr17:42428798 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.3(GRN):c.909del (p.Trp304fs) deletion not provided [RCV000084463] Chr17:44351435 [GRCh38]
Chr17:42428803 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.910_911insTG (p.Trp304fs) insertion not provided [RCV000084464] Chr17:44351437..44351438 [GRCh38]
Chr17:42428805..42428806 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.911G>A (p.Trp304Ter) single nucleotide variant not provided [RCV000084465] Chr17:44351438 [GRCh38]
Chr17:42428806 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.933+1G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000697778]|not provided [RCV000084466] Chr17:44351461 [GRCh38]
Chr17:42428829 [GRCh37]
Chr17:17q21.31
likely pathogenic|not provided
NM_002087.4(GRN):c.942C>A (p.Cys314Ter) single nucleotide variant not provided [RCV000084467] Chr17:44351558 [GRCh38]
Chr17:42428926 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.970G>A (p.Ala324Thr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000706214]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128038]|not provided [RCV000084468] Chr17:44351586 [GRCh38]
Chr17:42428954 [GRCh37]
Chr17:17q21.31
benign|likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.996G>A (p.Lys332=) single nucleotide variant not provided [RCV000084469] Chr17:44351612 [GRCh38]
Chr17:42428980 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.998del (p.Gly333fs) deletion not provided [RCV000084470] Chr17:44351612 [GRCh38]
Chr17:42428980 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1009C>T (p.Gln337Ter) single nucleotide variant not provided [RCV000084471] Chr17:44351625 [GRCh38]
Chr17:42428993 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.1145del (p.Thr382fs) deletion not provided [RCV000084473] Chr17:44351761 [GRCh38]
Chr17:42429129 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1157G>A (p.Trp386Ter) single nucleotide variant not provided [RCV000084474] Chr17:44351773 [GRCh38]
Chr17:42429141 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1176A>C (p.Pro392=) single nucleotide variant not provided [RCV000084475] Chr17:44351792 [GRCh38]
Chr17:42429160 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1201C>T (p.Gln401Ter) single nucleotide variant not provided [RCV000084476] Chr17:44352036 [GRCh38]
Chr17:42429404 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.1227_1228GT[2] (p.Val411fs) microsatellite not provided [RCV000084477] Chr17:44352062..44352063 [GRCh38]
Chr17:42429430..42429431 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.1227_1228GT[4] (p.Val411_Ala412insTer) microsatellite not provided [RCV000084478] Chr17:44352061..44352062 [GRCh38]
Chr17:42429429..42429430 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1241G>T (p.Gly414Val) single nucleotide variant not provided [RCV000084479] Chr17:44352076 [GRCh38]
Chr17:42429444 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995559]|not provided [RCV000084480] Chr17:44352087 [GRCh38]
Chr17:42429455 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764131]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122276]|not provided [RCV000084481] Chr17:44352088 [GRCh38]
Chr17:42429456 [GRCh37]
Chr17:17q21.31
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) single nucleotide variant Seizures [RCV000720287]|not provided [RCV000084482] Chr17:44352129 [GRCh38]
Chr17:42429497 [GRCh37]
Chr17:17q21.31
uncertain significance|not provided
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576498]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079475]|Seizures [RCV000716742]|not provided [RCV000084483] Chr17:44352132 [GRCh38]
Chr17:42429500 [GRCh37]
Chr17:17q21.31
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_002087.4(GRN):c.1341C>T (p.His447=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086557]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122277]|not provided [RCV000084484] Chr17:44352176 [GRCh38]
Chr17:42429544 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.1373C>T (p.Pro458Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122279]|not provided [RCV000084485] Chr17:44352208 [GRCh38]
Chr17:42429576 [GRCh37]
Chr17:17q21.31
uncertain significance|not provided
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989929]|not provided [RCV000084487] Chr17:44352237 [GRCh38]
Chr17:42429605 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.4(GRN):c.1409C>T (p.Pro470Leu) single nucleotide variant not provided [RCV000084488] Chr17:44352244 [GRCh38]
Chr17:42429612 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1422C>T (p.Cys474=) single nucleotide variant not provided [RCV000084489] Chr17:44352349 [GRCh38]
Chr17:42429717 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1425C>T (p.Cys475=) single nucleotide variant Seizures [RCV000720515]|not provided [RCV000084490] Chr17:44352352 [GRCh38]
Chr17:42429720 [GRCh37]
Chr17:17q21.31
likely benign|not provided
NM_002087.4(GRN):c.1485C>T (p.Cys495=) single nucleotide variant not provided [RCV000084492] Chr17:44352412 [GRCh38]
Chr17:42429780 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576691]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001083011]|Seizures [RCV000715628]|not provided [RCV000084493] Chr17:44352471 [GRCh38]
Chr17:42429839 [GRCh37]
Chr17:17q21.31
benign|likely benign|not provided
NM_002087.4(GRN):c.1623G>C (p.Trp541Cys) single nucleotide variant not provided [RCV000084494] Chr17:44352550 [GRCh38]
Chr17:42429918 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1648G>A (p.Val550Ile) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001057131]|not provided [RCV000084495] Chr17:44352664 [GRCh38]
Chr17:42430032 [GRCh37]
Chr17:17q21.31
uncertain significance|not provided
NM_002087.4(GRN):c.1666C>T (p.Arg556Cys) single nucleotide variant not provided [RCV000084496] Chr17:44352682 [GRCh38]
Chr17:42430050 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.4(GRN):c.1695C>T (p.Cys565=) single nucleotide variant not provided [RCV000084497] Chr17:44352711 [GRCh38]
Chr17:42430079 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.380_381del (p.Pro127fs) deletion not provided [RCV000084583] Chr17:44350258..44350259 [GRCh38]
Chr17:42427626..42427627 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.675_676del (p.Ser226fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995782]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001064002]|Primary progressive aphasia [RCV000017391]|not provided [RCV000084584] Chr17:44350767..44350768 [GRCh38]
Chr17:42428135..42428136 [GRCh37]
Chr17:17q21.31
pathogenic|not provided
NM_002087.3(GRN):c.1095_1096del (p.Pro365_Cys366insTer) deletion not provided [RCV000084586] Chr17:44351711..44351712 [GRCh38]
Chr17:42429079..42429080 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.234_235del (p.Gly79fs) deletion not provided [RCV000084587] Chr17:44349521..44349522 [GRCh38]
Chr17:42426889..42426890 [GRCh37]
Chr17:17q21.31
not provided
NM_002087.3(GRN):c.1626C>T (p.Ala542=) single nucleotide variant not provided [RCV000122498] Chr17:44352553 [GRCh38]
Chr17:42429921 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1298G>A (p.Arg433Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873788]|Seizures [RCV000718307]|not specified [RCV000174062] Chr17:44352133 [GRCh38]
Chr17:42429501 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.42G>A (p.Leu14=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576580]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000874021]|Seizures [RCV000715947] Chr17:44349206 [GRCh38]
Chr17:42426574 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.264+7G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576305]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086378]|not provided [RCV000513109]|not specified [RCV000177147] Chr17:44349558 [GRCh38]
Chr17:42426926 [GRCh37]
Chr17:17q21.31
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 copy number loss See cases [RCV000134949] Chr17:43934167..44854025 [GRCh38]
Chr17:42011535..42931393 [GRCh37]
Chr17:39367061..40286919 [NCBI36]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.462+1G>C single nucleotide variant Frontotemporal dementia [RCV000185610] Chr17:44350341 [GRCh38]
Chr17:42427709 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) single nucleotide variant Frontotemporal dementia [RCV000185611]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001254078] Chr17:44351409 [GRCh38]
Chr17:42428777 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1212C>A (p.Cys404Ter) single nucleotide variant Frontotemporal dementia [RCV000185612] Chr17:44352047 [GRCh38]
Chr17:42429415 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1246dup (p.Cys416fs) duplication Frontotemporal dementia [RCV000185613] Chr17:44352080..44352081 [GRCh38]
Chr17:42429448..42429449 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.87dup (p.Cys30fs) duplication Frontotemporal dementia [RCV000185614] Chr17:44349249..44349250 [GRCh38]
Chr17:42426617..42426618 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.708+1G>A single nucleotide variant Frontotemporal dementia [RCV000185615]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000503399]|not provided [RCV000513518] Chr17:44350801 [GRCh38]
Chr17:42428169 [GRCh37]
Chr17:17q21.31
pathogenic|likely pathogenic
NM_002087.3(GRN):c.835+7G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000544007]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576526]|not provided [RCV000675677]|not specified [RCV000251396] Chr17:44351170 [GRCh38]
Chr17:42428538 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.546G>A (p.Thr182=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576787]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876309]|Seizures [RCV000715983]|not specified [RCV000241937] Chr17:44350525 [GRCh38]
Chr17:42427893 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.1227G>A (p.Thr409=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576303]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876310]|Seizures [RCV000715977]|not specified [RCV000242834] Chr17:44352062 [GRCh38]
Chr17:42429430 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.-212G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000272574] Chr17:44345130 [GRCh38]
Chr17:42422498 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.*280G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000263809] Chr17:44353078 [GRCh38]
Chr17:42430446 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.-72G>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000264312]|not specified [RCV000732358] Chr17:44345270 [GRCh38]
Chr17:42422638 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.1641C>T (p.Arg547=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000267441] Chr17:44352568 [GRCh38]
Chr17:42429936 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1407G>A (p.Leu469=) single nucleotide variant not provided [RCV000584933] Chr17:44352242 [GRCh38]
Chr17:42429610 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1468G>A (p.Val490Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000302657]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001215000] Chr17:44352395 [GRCh38]
Chr17:42429763 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.100C>G (p.Pro34Ala) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000315887] Chr17:44349264 [GRCh38]
Chr17:42426632 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1179+6T>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000365450] Chr17:44351801 [GRCh38]
Chr17:42429169 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.497C>T (p.Pro166Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000402382] Chr17:44350476 [GRCh38]
Chr17:42427844 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1647C>T (p.Gly549=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000317858] Chr17:44352663 [GRCh38]
Chr17:42430031 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.393C>T (p.Phe131=) single nucleotide variant Frontotemporal dementia [RCV000349606] Chr17:44350271 [GRCh38]
Chr17:42427639 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-45C>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000323977]|not provided [RCV000675672] Chr17:44345297 [GRCh38]
Chr17:42422665 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_002087.3(GRN):c.1120_1122TCC[1] (p.Ser375del) microsatellite Frontotemporal dementia [RCV000310685]|Seizures [RCV000720890] Chr17:44351734..44351736 [GRCh38]
Chr17:42429102..42429104 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-173C>T single nucleotide variant Frontotemporal dementia [RCV000358975] Chr17:44345169 [GRCh38]
Chr17:42422537 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-179G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000327666] Chr17:44345163 [GRCh38]
Chr17:42422531 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764132]|not provided [RCV000519811] Chr17:44352123 [GRCh38]
Chr17:42429491 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV000523710] Chr17:44352187 [GRCh38]
Chr17:42429555 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.22G>A (p.Val8Met) single nucleotide variant not provided [RCV000729976] Chr17:44349186 [GRCh38]
Chr17:42426554 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.907del (p.Ala303fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000504273] Chr17:44351430 [GRCh38]
Chr17:42428798 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1486G>A (p.Glu496Lys) single nucleotide variant not specified [RCV000504550] Chr17:44352413 [GRCh38]
Chr17:42429781 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_002087.3(GRN):c.1438C>T (p.His480Tyr) single nucleotide variant Ceroid lipofuscinosis, neuronal, 11 [RCV000626099] Chr17:44352365 [GRCh38]
Chr17:42429733 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_002087.3(GRN):c.80dup (p.Val28fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000650259] Chr17:44349241..44349242 [GRCh38]
Chr17:42426609..42426610 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.513C>T (p.Cys171=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000533654]|Seizures [RCV000720224] Chr17:44350492 [GRCh38]
Chr17:42427860 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1036_1038del (p.Glu346del) deletion not provided [RCV000512785] Chr17:44351651..44351653 [GRCh38]
Chr17:42429019..42429021 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-14G>C single nucleotide variant not provided [RCV000675673] Chr17:44345328 [GRCh38]
Chr17:42422696 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.264+21G>A single nucleotide variant not provided [RCV000675674] Chr17:44349572 [GRCh38]
Chr17:42426940 [GRCh37]
Chr17:17q21.31
benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_002087.3(GRN):c.-8+3A>G single nucleotide variant not provided [RCV000658784] Chr17:44345337 [GRCh38]
Chr17:42422705 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.462+24G>A single nucleotide variant not provided [RCV000675675] Chr17:44350364 [GRCh38]
Chr17:42427732 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.238A>T (p.Thr80Ser) single nucleotide variant Seizures [RCV000717430] Chr17:44349525 [GRCh38]
Chr17:42426893 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.568A>C (p.Lys190Gln) single nucleotide variant Seizures [RCV000717170] Chr17:44350547 [GRCh38]
Chr17:42427915 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.157C>G (p.Leu53Val) single nucleotide variant Seizures [RCV000717427] Chr17:44349444 [GRCh38]
Chr17:42426812 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.302G>A (p.Arg101Gln) single nucleotide variant Seizures [RCV000715186] Chr17:44349704 [GRCh38]
Chr17:42427072 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.828G>T (p.Ala276=) single nucleotide variant not provided [RCV000675676] Chr17:44351156 [GRCh38]
Chr17:42428524 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.139G>A (p.Asp47Asn) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000689976] Chr17:44349426 [GRCh38]
Chr17:42426794 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1073_1074dup (p.Ala359fs) duplication not provided [RCV000712525] Chr17:44351688..44351689 [GRCh38]
Chr17:42429056..42429057 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1448C>T (p.Pro483Leu) single nucleotide variant not provided [RCV000712526] Chr17:44352375 [GRCh38]
Chr17:42429743 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-203G>C single nucleotide variant not provided [RCV000712527] Chr17:44345139 [GRCh38]
Chr17:42422507 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.-38T>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122181]|not provided [RCV000712529] Chr17:44345304 [GRCh38]
Chr17:42422672 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.634C>T (p.Arg212Trp) single nucleotide variant Seizures [RCV000717488] Chr17:44350726 [GRCh38]
Chr17:42428094 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1540G>A (p.Val514Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001330687]|Seizures [RCV000716050] Chr17:44352467 [GRCh38]
Chr17:42429835 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.808C>T (p.Leu270Phe) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000692383] Chr17:44351136 [GRCh38]
Chr17:42428504 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.991C>T (p.Gln331Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000690502] Chr17:44351607 [GRCh38]
Chr17:42428975 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.-100A>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122180]|not provided [RCV000712524] Chr17:44345242 [GRCh38]
Chr17:42422610 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.228C>T (p.Thr76=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079009]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124957]|not provided [RCV000712528] Chr17:44349515 [GRCh38]
Chr17:42426883 [GRCh37]
Chr17:17q21.31
benign|likely benign
NM_002087.3(GRN):c.708+6_708+9del microsatellite Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000822240]|not provided [RCV000712530] Chr17:44350801..44350804 [GRCh38]
Chr17:42428169..42428172 [GRCh37]
Chr17:17q21.31
likely pathogenic|uncertain significance
NM_002087.3(GRN):c.232dup (p.Ser78fs) duplication Frontotemporal dementia [RCV000736257] Chr17:44349518..44349519 [GRCh38]
Chr17:42426886..42426887 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.287A>G (p.His96Arg) single nucleotide variant Seizures [RCV000715676] Chr17:44349689 [GRCh38]
Chr17:42427057 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.139-3T>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124956]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001207054]|Seizures [RCV000718095] Chr17:44349423 [GRCh38]
Chr17:42426791 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_002087.3(GRN):c.1180-3C>T single nucleotide variant Seizures [RCV000719065] Chr17:44352012 [GRCh38]
Chr17:42429380 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1555G>A (p.Val519Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001305766]|Seizures [RCV000717818] Chr17:44352482 [GRCh38]
Chr17:42429850 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.393C>G (p.Phe131Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873800]|Seizures [RCV000718673] Chr17:44350271 [GRCh38]
Chr17:42427639 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_002087.3(GRN):c.1432C>T (p.Arg478Cys) single nucleotide variant Seizures [RCV000720480] Chr17:44352359 [GRCh38]
Chr17:42429727 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.892C>T (p.Arg298Cys) single nucleotide variant Seizures [RCV000720331] Chr17:44351419 [GRCh38]
Chr17:42428787 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.803C>T (p.Thr268Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000817892]|Seizures [RCV000720531] Chr17:44351131 [GRCh38]
Chr17:42428499 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.385dup (p.Ser129fs) duplication Frontotemporal dementia [RCV000736256] Chr17:44350262..44350263 [GRCh38]
Chr17:42427630..42427631 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.1179G>A (p.Glu393=) single nucleotide variant Frontotemporal dementia [RCV000736255] Chr17:44351795 [GRCh38]
Chr17:42429163 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.560del (p.Leu187fs) deletion Frontotemporal dementia [RCV000736254] Chr17:44350539 [GRCh38]
Chr17:42427907 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.776dup (p.Cys260fs) duplication Frontotemporal dementia [RCV000736251] Chr17:44351102..44351103 [GRCh38]
Chr17:42428470..42428471 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.264+1G>A single nucleotide variant Alzheimer disease [RCV000736249] Chr17:44349552 [GRCh38]
Chr17:42426920 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.753_754TG[5] (p.Asp254fs) microsatellite Frontotemporal dementia [RCV000736248] Chr17:44351080..44351081 [GRCh38]
Chr17:42428448..42428449 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) insertion Frontotemporal dementia [RCV000736247] Chr17:44350501..44350502 [GRCh38]
Chr17:42427869..42427870 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.827C>T (p.Ala276Val) single nucleotide variant Seizures [RCV000718570] Chr17:44351155 [GRCh38]
Chr17:42428523 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.329G>A (p.Arg110Gln) single nucleotide variant Seizures [RCV000718947] Chr17:44349731 [GRCh38]
Chr17:42427099 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1736G>A (p.Arg579His) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000820629]|Seizures [RCV000720113] Chr17:44352752 [GRCh38]
Chr17:42430120 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1497G>C (p.Val499=) single nucleotide variant Seizures [RCV000720215] Chr17:44352424 [GRCh38]
Chr17:42429792 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.615G>A (p.Ser205=) single nucleotide variant Seizures [RCV000720812] Chr17:44350707 [GRCh38]
Chr17:42428075 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.415T>C (p.Cys139Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001212605]|Seizures [RCV000720469]|not provided [RCV000996562] Chr17:44350293 [GRCh38]
Chr17:42427661 [GRCh37]
Chr17:17q21.31
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) single nucleotide variant Frontotemporal dementia [RCV000736252] Chr17:44352373 [GRCh38]
Chr17:42429741 [GRCh37]
Chr17:17q21.31
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NP_002078.1(GRN):p.Ser449_Thr455del protein only Frontotemporal dementia [RCV000754568] Chr17:17q21.31 likely pathogenic
NM_002087.3(GRN):c.1269G>A (p.Val423=) single nucleotide variant not provided [RCV000941460] Chr17:44352104 [GRCh38]
Chr17:42429472 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.360C>T (p.Ser120=) single nucleotide variant not provided [RCV000891847] Chr17:44350238 [GRCh38]
Chr17:42427606 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.253C>G (p.Pro85Ala) single nucleotide variant not provided [RCV000992526] Chr17:44349540 [GRCh38]
Chr17:42426908 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.768_769dup (p.Gln257fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989928]|not provided [RCV000992528] Chr17:44351095..44351096 [GRCh38]
Chr17:42428463..42428464 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.690C>T (p.Gly230=) single nucleotide variant not provided [RCV000959356] Chr17:44350782 [GRCh38]
Chr17:42428150 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.918C>A (p.Cys306Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995558] Chr17:44351445 [GRCh38]
Chr17:42428813 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.146G>A (p.Trp49Ter) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995778] Chr17:44349433 [GRCh38]
Chr17:42426801 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.349+1G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995780] Chr17:44349752 [GRCh38]
Chr17:42427120 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.424dup (p.Met142fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995781] Chr17:44350301..44350302 [GRCh38]
Chr17:42427669..42427670 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.709-4_713del deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995783] Chr17:44351029..44351037 [GRCh38]
Chr17:42428397..42428405 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.3(GRN):c.229G>A (p.Val77Ile) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000806404] Chr17:44349516 [GRCh38]
Chr17:42426884 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.708+8A>T single nucleotide variant not provided [RCV000874038] Chr17:44350808 [GRCh38]
Chr17:42428176 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.630C>T (p.Asp210=) single nucleotide variant not provided [RCV000898651] Chr17:44350722 [GRCh38]
Chr17:42428090 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.723C>T (p.Ser241=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000877445]|not provided [RCV001288262] Chr17:44351051 [GRCh38]
Chr17:42428419 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.891C>T (p.Cys297=) single nucleotide variant not provided [RCV000882920] Chr17:44351418 [GRCh38]
Chr17:42428786 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.836-3C>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000796769]|not provided [RCV001288263] Chr17:44351360 [GRCh38]
Chr17:42428728 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1669C>T (p.His557Tyr) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000795069] Chr17:44352685 [GRCh38]
Chr17:42430053 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.268G>A (p.Val90Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000822374]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124958] Chr17:44349670 [GRCh38]
Chr17:42427038 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_002087.3(GRN):c.250T>C (p.Cys84Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000800052] Chr17:44349537 [GRCh38]
Chr17:42426905 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1112G>C (p.Ser371Thr) single nucleotide variant not provided [RCV000992525] Chr17:44351728 [GRCh38]
Chr17:42429096 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.8C>G (p.Thr3Ser) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000811134] Chr17:44349172 [GRCh38]
Chr17:42426540 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1126G>A (p.Asp376Asn) single nucleotide variant not provided [RCV000876798] Chr17:44351742 [GRCh38]
Chr17:42429110 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.11:g.44349572G>A single nucleotide variant not provided [RCV000843594] Chr17:42426940 [GRCh37]
Chr17:17q21.31
benign
NC_000017.11:g.44350364G>A single nucleotide variant not provided [RCV000843598] Chr17:42427732 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.442G>A (p.Gly148Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000799711] Chr17:44350320 [GRCh38]
Chr17:42427688 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.1010_1011del (p.Gln337fs) deletion not provided [RCV000992524] Chr17:44351626..44351627 [GRCh38]
Chr17:42428994..42428995 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.928A>C (p.Thr310Pro) single nucleotide variant not provided [RCV000992529] Chr17:44351455 [GRCh38]
Chr17:42428823 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.641G>A (p.Arg214Gln) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001215304] Chr17:44350733 [GRCh38]
Chr17:42428101 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.383_386del (p.Asp128fs) deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001220665] Chr17:44350260..44350263 [GRCh38]
Chr17:42427628..42427631 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001204178] Chr17:44350754 [GRCh38]
Chr17:42428122 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.7A>G (p.Thr3Ala) single nucleotide variant Ceroid lipofuscinosis, neuronal, 11 [RCV001197111] Chr17:44349171 [GRCh38]
Chr17:42426539 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.57G>T (p.Arg19=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124954] Chr17:44349221 [GRCh38]
Chr17:42426589 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.99C>A (p.Asp33Glu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124955]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001242925] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.835+14G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128035] Chr17:44351177 [GRCh38]
Chr17:42428545 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1180-8C>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128040] Chr17:44352007 [GRCh38]
Chr17:42429375 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1180-8C>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128041] Chr17:44352007 [GRCh38]
Chr17:42429375 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1357G>A (p.Gly453Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122278]|Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001294896] Chr17:44352192 [GRCh38]
Chr17:42429560 [GRCh37]
Chr17:17q21.31
likely benign|uncertain significance
NM_002087.4(GRN):c.1518C>T (p.Thr506=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122280] Chr17:44352445 [GRCh38]
Chr17:42429813 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1521C>T (p.Phe507=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122281] Chr17:44352448 [GRCh38]
Chr17:42429816 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125934] Chr17:44350718 [GRCh38]
Chr17:42428086 [GRCh37]
Chr17:17q21.31
benign
NM_002087.3(GRN):c.1449G>A (p.Pro483=) single nucleotide variant not provided [RCV000952452] Chr17:44352376 [GRCh38]
Chr17:42429744 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1071A>T (p.Pro357=) single nucleotide variant not provided [RCV000886424] Chr17:44351687 [GRCh38]
Chr17:42429055 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1212C>T (p.Cys404=) single nucleotide variant not provided [RCV000908271] Chr17:44352047 [GRCh38]
Chr17:42429415 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.4(GRN):c.*273C>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001126034] Chr17:44353071 [GRCh38]
Chr17:42430439 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.170T>G (p.Leu57Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001041583] Chr17:44349457 [GRCh38]
Chr17:42426825 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.-8+3A>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122183] Chr17:44345337 [GRCh38]
Chr17:42422705 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.933+15C>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128037] Chr17:44351475 [GRCh38]
Chr17:42428843 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1019A>T (p.His340Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128039] Chr17:44351635 [GRCh38]
Chr17:42429003 [GRCh37]
Chr17:17q21.31
likely benign
NC_000017.11:g.(?_44027807)_(44352876_?)dup duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001032594] Chr17:42105175..42430244 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.3(GRN):c.745C>T (p.Gln249Ter) single nucleotide variant not provided [RCV000992527] Chr17:44351073 [GRCh38]
Chr17:42428441 [GRCh37]
Chr17:17q21.31
likely pathogenic
NM_002087.3(GRN):c.933+7A>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000933973] Chr17:44351467 [GRCh38]
Chr17:42428835 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.1146G>A (p.Thr382=) single nucleotide variant not provided [RCV000934353] Chr17:44351762 [GRCh38]
Chr17:42429130 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.54G>A (p.Thr18=) single nucleotide variant not provided [RCV000935535] Chr17:44349218 [GRCh38]
Chr17:42426586 [GRCh37]
Chr17:17q21.31
likely benign
NM_002087.3(GRN):c.350-50_350-47dup duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989927] Chr17:44350176..44350177 [GRCh38]
Chr17:42427544..42427545 [GRCh37]
Chr17:17q21.31
benign
NM_002087.4(GRN):c.*246A>G single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001126033] Chr17:44353044 [GRCh38]
Chr17:42430412 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.709-12G>C single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125935] Chr17:44351025 [GRCh38]
Chr17:42428393 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1510C>G (p.Pro504Ala) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001222859] Chr17:44352437 [GRCh38]
Chr17:42429805 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1179+4_1179+8del deletion Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001069975] Chr17:44351799..44351803 [GRCh38]
Chr17:42429167..42429171 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1226C>T (p.Thr409Met) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001071688] Chr17:44352061 [GRCh38]
Chr17:42429429 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.349+6G>A single nucleotide variant not provided [RCV001200223] Chr17:44349757 [GRCh38]
Chr17:42427125 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1548G>T (p.Val516=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125057] Chr17:44352475 [GRCh38]
Chr17:42429843 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.-22C>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122182] Chr17:44345320 [GRCh38]
Chr17:42422688 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1193C>T (p.Ser398Leu) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001204370] Chr17:44352028 [GRCh38]
Chr17:42429396 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.507C>G (p.Ala169=) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218441] Chr17:44350486 [GRCh38]
Chr17:42427854 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1560G>T (p.Glu520Asp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125058] Chr17:44352487 [GRCh38]
Chr17:42429855 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.*12G>T single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125059] Chr17:44352810 [GRCh38]
Chr17:42430178 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.*30G>A single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125060] Chr17:44352828 [GRCh38]
Chr17:42430196 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.103G>A (p.Gly35Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001254077] Chr17:44349267 [GRCh38]
Chr17:42426635 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.4(GRN):c.559dup (p.Leu187fs) duplication Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001262996] Chr17:44350533..44350534 [GRCh38]
Chr17:42427901..42427902 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.350G>A (p.Gly117Asp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001319865] Chr17:44350228 [GRCh38]
Chr17:42427596 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1420_1421del (p.Cys474fs) microsatellite not provided [RCV001289125] Chr17:44352343..44352344 [GRCh38]
Chr17:42429711..42429712 [GRCh37]
Chr17:17q21.31
pathogenic
NM_002087.4(GRN):c.58T>C (p.Cys20Arg) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001318543] Chr17:44349222 [GRCh38]
Chr17:42426590 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1721G>A (p.Arg574His) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001307094] Chr17:44352737 [GRCh38]
Chr17:42430105 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.1663C>T (p.Arg555Trp) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001324969] Chr17:44352679 [GRCh38]
Chr17:42430047 [GRCh37]
Chr17:17q21.31
uncertain significance
NM_002087.4(GRN):c.38G>C (p.Gly13Ala) single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001330880] Chr17:44349202 [GRCh38]
Chr17:42426570 [GRCh37]
Chr17:17q21.31
uncertain significance

Additional Information