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:4601
Description: Enables protein-folding chaperone binding activity. Involved in several processes, including lysosomal lumen acidification; negative regulation of neutrophil activation; and negative regulation of respiratory burst involved in inflammatory response. Located in several cellular components, including Golgi apparatus; late endosome; and lysosomal membrane. Implicated in dementia (multiple); neurodegenerative disease (multiple); neuronal ceroid lipofuscinosis 11; and primary progressive multiple sclerosis. Biomarker of several diseases, including Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; atherosclerosis; autistic disorder; multiple sclerosis (multiple); and neurodegenerative disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acrogranin; CLN11; epithelin; FTD2; 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36Build 36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,166 - 42,666,146 (+)NCBICHM1_1
T2T-CHM13v2.01745,199,297 - 45,207,105 (+)NCBIT2T-CHM13v2.0
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-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (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)
allethrin  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
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)
beta-lapachone  (EXP)
bis(2-ethylhexyl) adipate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
butan-1-ol  (EXP)
butyric acid  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
carnosic acid  (ISO)
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)
cyhalothrin  (ISO)
cypermethrin  (ISO)
cyproconazole  (ISO)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dimethylarsinic acid  (ISO)
diquat  (ISO)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
felbamate  (ISO)
fenamidone  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
flavonoids  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fumonisin B1  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (ISO)
hypochlorous acid  (ISO)
inulin  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead diacetate  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (EXP)
LY294002  (ISO)
menadione  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
nimesulide  (ISO)
nitrates  (ISO)
nitroglycerin  (ISO)
Osajin  (EXP)
ozone  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pinostrobin  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
Pomiferin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
pyrethrins  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
senecionine  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sulindac  (EXP)
sulindac sulfide  (EXP)
T-2 toxin  (EXP)
tacrolimus hydrate  (ISO)
tamibarotene  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
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)
epithelial cell proliferation  (ISO)
locomotory exploration behavior  (ISO)
lysosomal lumen acidification  (IMP)
lysosomal protein catabolic process  (ISO)
lysosomal transport  (IMP,ISS)
lysosome organization  (ISS)
maintenance of synapse structure  (ISO)
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)
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)
positive regulation of trophectodermal cell proliferation  (ISO)
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)
trophectodermal cell proliferation  (ISO)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brain FDG positron emission tomography  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal lower motor neuron morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of extrapyramidal motor function  (IAGP)
Abulia  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Alexia  (IAGP)
Alzheimer disease  (IAGP)
Amplification of sexual behavior  (IAGP)
Anomic aphasia  (IAGP)
Anxiety  (IAGP)
Apathy  (IAGP)
Aphasia  (IAGP)
Apraxia  (IAGP)
Astrocytosis  (IAGP)
Ataxia  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bradykinesia  (IAGP)
Brain atrophy  (IAGP)
Brain neoplasm  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cognitive impairment  (IAGP)
Collectionism  (IAGP)
Deficit in grammar  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Disinhibition  (IAGP)
Dyscalculia  (IAGP)
Dysgraphia  (IAGP)
Dyslexia  (IAGP)
Echolalia  (IAGP)
EEG with continuous slow activity  (IAGP)
EEG with generalized polyspikes  (IAGP)
Emotional dearth  (IAGP)
Expressive aphasia  (IAGP)
Fasciculations  (IAGP)
Frontotemporal cerebral atrophy  (IAGP)
Frontotemporal dementia  (IAGP)
Gait disturbance  (IAGP)
Generalized myoclonic seizure  (IAGP)
Gliosis  (IAGP)
Hallucinations  (IAGP)
Hyperorality  (IAGP)
Hyperreflexia  (IAGP)
Inappropriate behavior  (IAGP)
Intermediate young adult onset  (IAGP)
Irritability  (IAGP)
Ischemic stroke  (IAGP)
Lack of insight  (IAGP)
Lateral ventricle dilatation  (IAGP)
Lewy bodies  (IAGP)
Loss of speech  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Motor stereotypy  (IAGP)
Mutism  (IAGP)
Neurodegeneration  (IAGP)
Neurofibrillary tangles  (IAGP)
Neuronal loss in central nervous system  (IAGP)
Optic atrophy  (IAGP)
Parkinsonism  (IAGP)
Perseverative thought  (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)
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
# Reference Title Reference Citation
1. Low plasma progranulin levels in children with autism. Al-Ayadhi LY and Mostafa GA, J Neuroinflammation. 2011 Sep 5;8:111.
2. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Baker M, etal., Nature. 2006 Aug 24;442(7105):916-9. Epub 2006 Jul 16.
3. Progranulin mutations in Dutch familial frontotemporal lobar degeneration. Bronner IF, etal., Eur J Hum Genet. 2007 Mar;15(3):369-74. Epub 2007 Jan 17.
4. Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease. Brouwers N, etal., Neurology. 2008 Aug 26;71(9):656-64. Epub 2008 Jun 18.
5. Brain progranulin expression in GRN-associated frontotemporal lobar degeneration. Chen-Plotkin AS, etal., Acta Neuropathol. 2010 Jan;119(1):111-22. Epub 2009 Aug 2.
6. Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family. Chiang HH, etal., Alzheimers Dement. 2008 Nov;4(6):414-20.
7. Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Cruchaga C, etal., Arch Neurol. 2011 May;68(5):581-6. Epub 2011 Jan 10.
8. Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly. Dickson DW, etal., Neurodegener Dis. 2010;7(1-3):170-4. Epub 2010 Mar 3.
9. The growth factor progranulin attenuates neuronal injury induced by cerebral ischemia-reperfusion through the suppression of neutrophil recruitment. Egashira Y, etal., J Neuroinflammation. 2013 Aug 23;10:105. doi: 10.1186/1742-2094-10-105.
10. Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males. Fenoglio C, etal., Genes Immun. 2010 Sep;11(6):497-503. Epub 2010 May 13.
11. Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members. Finch N, etal., Brain. 2009 Mar;132(Pt 3):583-91. doi: 10.1093/brain/awn352. Epub 2009 Jan 21.
12. Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration. Galimberti D, etal., Neurol Sci. 2013 Jun;34(6):899-903. doi: 10.1007/s10072-012-1151-5. Epub 2012 Jul 14.
13. Core features of frontotemporal dementia recapitulated in progranulin knockout mice. Ghoshal N, etal., Neurobiol Dis. 2011 Sep 10.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease. 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. Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. Kelley BJ, etal., Arch Neurol. 2010 Feb;67(2):171-7.
17. Further evidence for plasma progranulin as a biomarker in bipolar disorder. Kittel-Schneider S, etal., J Affect Disord. 2014 Mar;157:87-91. doi: 10.1016/j.jad.2014.01.006. Epub 2014 Jan 25.
18. Progranulin expression in advanced human atherosclerotic plaque. Kojima Y, etal., Atherosclerosis. 2009 Sep;206(1):102-8. Epub 2009 Feb 23.
19. Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings. Lopez de Munain A, etal., Biol Psychiatry. 2008 May 15;63(10):946-52. Epub 2007 Oct 22.
20. Reduced serum progranulin level might be associated with Parkinson's disease risk. Mateo I, etal., Eur J Neurol. 2013 Dec;20(12):1571-3. doi: 10.1111/ene.12090. Epub 2013 Feb 9.
21. HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. Mukherjee O, etal., Ann Neurol. 2006 Sep;60(3):314-22.
22. Progranulin expression is upregulated after spinal contusion in mice. Naphade SB, etal., Acta Neuropathol. 2010 Jan;119(1):123-33. Epub 2009 Nov 28.
23. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
24. Progranulin expression correlates with dense-core amyloid plaque burden in Alzheimer disease mouse models. Pereson S, etal., J Pathol. 2009 Oct;219(2):173-81.
25. Microglial upregulation of progranulin as a marker of motor neuron degeneration. Philips T, etal., J Neuropathol Exp Neurol. 2010 Dec;69(12):1191-200.
26. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations. Pickering-Brown SM, etal., Brain. 2008 Mar;131(Pt 3):721-31. doi: 10.1093/brain/awm331. Epub 2008 Jan 11.
27. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
28. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
29. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
30. Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation. Skoglund L, etal., Neurogenetics. 2009 Feb;10(1):27-34. Epub 2008 Oct 15.
31. Progranulin genetic variability contributes to amyotrophic lateral sclerosis. Sleegers K, etal., Neurology. 2008 Jul 22;71(4):253-9. Epub 2008 Jan 9.
32. The growth factor progranulin binds to TNF receptors and is therapeutic against inflammatory arthritis in mice. Tang W, etal., Science. 2011 Apr 22;332(6028):478-84. Epub 2011 Mar 10.
33. Progranulin expression in brain tissue and cerebrospinal fluid levels in multiple sclerosis. Vercellino M, etal., Mult Scler. 2011 Oct;17(10):1194-201. Epub 2011 May 25.
34. An association study between granulin gene polymorphisms and Alzheimer's disease in Finnish population. Viswanathan J, etal., Am J Med Genet B Neuropsychiatr Genet. 2009 Jul 5;150B(5):747-50. doi: 10.1002/ajmg.b.30889.
35. Progranulin promotes activation of microglia/macrophage after pilocarpine-induced status epilepticus. 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
PMID:1417868   PMID:1542665   PMID:1618805   PMID:2268320   PMID:8125298   PMID:8471244   PMID:8471426   PMID:8496151   PMID:8619474   PMID:8912679   PMID:9110174   PMID:9826678  
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PMID:12588988   PMID:12900424   PMID:12914763   PMID:12931033   PMID:14652816   PMID:14702039   PMID:14977833   PMID:15231748   PMID:15489334   PMID:15569995   PMID:15653695   PMID:16189514  
PMID:16533762   PMID:16713569   PMID:16857791   PMID:16862115   PMID:16950801   PMID:16983677   PMID:17110338   PMID:17157414   PMID:17166276   PMID:17202431   PMID:17210807   PMID:17261172  
PMID:17266030   PMID:17278999   PMID:17291356   PMID:17345602   PMID:17353379   PMID:17371905   PMID:17383054   PMID:17417739   PMID:17436289   PMID:17439980   PMID:17458552   PMID:17522386  
PMID:17572900   PMID:17620546   PMID:17698705   PMID:17826340   PMID:17949857   PMID:17984093   PMID:18029348   PMID:18157829   PMID:18166610   PMID:18183624   PMID:18223198   PMID:18234697  
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PMID:19446372   PMID:19487464   PMID:19618231   PMID:19625741   PMID:19632744   PMID:19730170   PMID:19730171   PMID:19795409   PMID:19847305   PMID:19858458   PMID:19863344   PMID:19864668  
PMID:19913121   PMID:19938685   PMID:19940479   PMID:19963041   PMID:20020531   PMID:20028451   PMID:20045477   PMID:20054825   PMID:20061636   PMID:20087814   PMID:20142524   PMID:20154673  
PMID:20171924   PMID:20215705   PMID:20237496   PMID:20301334   PMID:20301545   PMID:20301601   PMID:20387302   PMID:20479936   PMID:20489155   PMID:20570546   PMID:20628086   PMID:20682318  
PMID:20711061   PMID:20798611   PMID:20858962   PMID:20884628   PMID:20930269   PMID:20930271   PMID:20933034   PMID:20947212   PMID:20975516   PMID:21047645   PMID:21078624   PMID:21085476  
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PMID:21454553   PMID:21482928   PMID:21516116   PMID:21645364   PMID:21653829   PMID:21677378   PMID:21707777   PMID:21753165   PMID:21800185   PMID:21802097   PMID:21813674   PMID:21873635  
PMID:21891865   PMID:21891869   PMID:21942715   PMID:21988832   PMID:22032330   PMID:22045426   PMID:22068162   PMID:22088468   PMID:22127750   PMID:22130207   PMID:22176685   PMID:22194816  
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PMID:22608501   PMID:22623979   PMID:22647257   PMID:22658674   PMID:22665040   PMID:22761921   PMID:22787763   PMID:22792281   PMID:22802426   PMID:22819134   PMID:22859297   PMID:22890097  
PMID:22890101   PMID:22945272   PMID:22986778   PMID:23088713   PMID:23140401   PMID:23158232   PMID:23218900   PMID:23236149   PMID:23317568   PMID:23338682   PMID:23342160   PMID:23364791  
PMID:23376485   PMID:23396349   PMID:23402259   PMID:23409033   PMID:23419701   PMID:23455922   PMID:23463024   PMID:23476101   PMID:23478307   PMID:23533145   PMID:23596077   PMID:23609919  
PMID:23684369   PMID:23702100   PMID:23847387   PMID:24005336   PMID:24009671   PMID:24018267   PMID:24070898   PMID:24081456   PMID:24100384   PMID:24120669   PMID:24139281   PMID:24163244  
PMID:24163370   PMID:24186875   PMID:24252750   PMID:24286341   PMID:24309270   PMID:24343233   PMID:24368088   PMID:24387985   PMID:24417980   PMID:24449064   PMID:24457600   PMID:24494724  
PMID:24499389   PMID:24503614   PMID:24591016   PMID:24652679   PMID:24673545   PMID:24680777   PMID:24709683   PMID:24711643   PMID:24771538   PMID:24793792   PMID:24797263   PMID:24800652  
PMID:24803297   PMID:24814951   PMID:24878635   PMID:24896343   PMID:24899141   PMID:24971611   PMID:24993774   PMID:25024321   PMID:25027814   PMID:25033727   PMID:25054309   PMID:25056957  
PMID:25085782   PMID:25115442   PMID:25164155   PMID:25231693   PMID:25261445   PMID:25365768   PMID:25377796   PMID:25406312   PMID:25416956   PMID:25417056   PMID:25470345   PMID:25578179  
PMID:25580532   PMID:25626394   PMID:25765123   PMID:25777988   PMID:25839164   PMID:25885205   PMID:25888887   PMID:25910212   PMID:25921289   PMID:25998110   PMID:26005049   PMID:26186194  
PMID:26245842   PMID:26303052   PMID:26339140   PMID:26370502   PMID:26447062   PMID:26462672   PMID:26473392   PMID:26495792   PMID:26509463   PMID:26549023   PMID:26600492   PMID:26607602  
PMID:26618866   PMID:26624524   PMID:26652843   PMID:26674655   PMID:26676574   PMID:26682689   PMID:26811050   PMID:26820675   PMID:26827655   PMID:26831064   PMID:26836150   PMID:26942873  
PMID:26961809   PMID:26968845   PMID:26971930   PMID:26973102   PMID:26977398   PMID:27021778   PMID:27082848   PMID:27088855   PMID:27100392   PMID:27104901   PMID:27149013   PMID:27163816  
PMID:27220888   PMID:27239673   PMID:27258413   PMID:27311648   PMID:27465877   PMID:27497155   PMID:27515686   PMID:27517315   PMID:27571908   PMID:27576135   PMID:27625986   PMID:27632209  
PMID:27705803   PMID:27744566   PMID:27760429   PMID:27767988   PMID:27776152   PMID:27789271   PMID:27814992   PMID:27903606   PMID:27941174   PMID:28070672   PMID:28073702   PMID:28073925  
PMID:28127696   PMID:28153380   PMID:28189700   PMID:28247166   PMID:28273689   PMID:28285794   PMID:28330615   PMID:28330616   PMID:28415822   PMID:28433812   PMID:28435163   PMID:28453791  
PMID:28473694   PMID:28493053   PMID:28514442   PMID:28515276   PMID:28529873   PMID:28541286   PMID:28574293   PMID:28594853   PMID:28601093   PMID:28609022   PMID:28664756   PMID:28718761  
PMID:28743268   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:31102282   PMID:31262553   PMID:31285425   PMID:31291241   PMID:31324722   PMID:31361008   PMID:31361391   PMID:31376286   PMID:31469472   PMID:31484831  
PMID:31491449   PMID:31492495   PMID:31515488   PMID:31534059   PMID:31585000   PMID:31600775   PMID:31626287   PMID:31710121   PMID:31713081   PMID:31804874   PMID:31818769   PMID:31855245  
PMID:31864418   PMID:31870439   PMID:31928925   PMID:31980649   PMID:32006270   PMID:32112819   PMID:32129710   PMID:32247641   PMID:32296183   PMID:32344399   PMID:32409323   PMID:32417448  
PMID:32474861   PMID:32507413   PMID:32526197   PMID:32615724   PMID:32759310   PMID:32769115   PMID:32814053   PMID:32908313   PMID:32961397   PMID:32972771   PMID:32985120   PMID:33029756  
PMID:33112398   PMID:33157500   PMID:33197149   PMID:33323378   PMID:33411849   PMID:33418170   PMID:33433870   PMID:33443646   PMID:33486486   PMID:33618683   PMID:33644029   PMID:33742100  
PMID:33813350   PMID:33896652   PMID:33930186   PMID:33941562   PMID:33961781   PMID:33969679   PMID:33980708   PMID:34103390   PMID:34133714   PMID:34185411   PMID:34208547   PMID:34374777  
PMID:34450028   PMID:34591877   PMID:34620513   PMID:34642328   PMID:34664252   PMID:34709727   PMID:34718893   PMID:34901782   PMID:34918030   PMID:34919127   PMID:35013174   PMID:35013218  
PMID:35031058   PMID:35085262   PMID:35140242   PMID:35159297   PMID:35241513   PMID:35356984   PMID:35384245   PMID:35446349   PMID:35509820   PMID:35562734   PMID:35563538   PMID:35696571  
PMID:35790423   PMID:35792478   PMID:35810449   PMID:35831314   PMID:35879464   PMID:35933009   PMID:35944360   PMID:36183781   PMID:36207292   PMID:36215168   PMID:36244648   PMID:36261009  
PMID:36361641   PMID:36508390   PMID:36517590   PMID:36602862   PMID:36641371   PMID:36889696   PMID:36949045   PMID:36967384   PMID:37003407   PMID:37054899   PMID:37118844   PMID:37132043  
PMID:37249651   PMID:37561339   PMID:37705046   PMID:38103296   PMID:38129828   PMID:38203682   PMID:38228392   PMID:38246573   PMID:38247816   PMID:38334360   PMID:38347588   PMID:38354999  
PMID:38365048   PMID:38441695   PMID:38515377   PMID:38539243   PMID:38554213   PMID:38865340   PMID:39218796  


Genomics

Comparative Map Data
GRN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,345,302 - 44,353,106 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,345,246 - 44,353,106 (+)EnsemblGRCh38hg38GRCh38
GRCh371742,422,670 - 42,430,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,778,017 - 39,785,996 (+)NCBINCBI36Build 36hg18NCBI36
Build 341739,778,016 - 39,785,996NCBI
Celera1739,132,112 - 39,140,095 (+)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,186,768 - 38,194,753 (+)NCBIHuRef
CHM1_11742,658,166 - 42,666,146 (+)NCBICHM1_1
T2T-CHM13v2.01745,199,297 - 45,207,105 (+)NCBIT2T-CHM13v2.0
Grn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,321,333 - 102,327,635 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11102,321,141 - 102,327,874 (+)EnsemblGRCm39 Ensembl
GRCm3811102,430,507 - 102,436,809 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,430,315 - 102,437,048 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711102,291,636 - 102,298,123 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611102,246,597 - 102,252,895 (+)NCBIMGSCv36mm8
Celera11114,140,482 - 114,146,970 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1166.29NCBI
Grn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81087,887,834 - 87,893,938 (+)NCBIGRCr8
mRatBN7.21087,387,672 - 87,393,777 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1087,387,638 - 87,393,775 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1092,424,835 - 92,430,942 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01091,890,037 - 91,896,139 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01087,283,370 - 87,289,472 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01090,377,103 - 90,383,207 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,376,933 - 90,383,205 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01090,165,634 - 90,171,738 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,536,135 - 91,542,239 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21920,557,091 - 20,565,084 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11722,521,447 - 22,529,431 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01713,046,329 - 13,054,236 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11713,211,784 - 13,219,793 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,211,784 - 13,219,609 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0919,771,801 - 19,779,240 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl919,771,806 - 19,779,115 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1918,625,608 - 18,633,045 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0918,808,582 - 18,816,025 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0918,952,849 - 18,960,290 (-)NCBIUU_Cfam_GSD_1.0
Grn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,390,156 - 18,401,106 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936541793,523 - 800,217 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,037,344 - 62,045,765 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,036,412 - 62,045,614 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607732,804,031 - 32,812,724 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624795704,252 - 707,165 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624795704,066 - 708,721 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRN
583 total Variants

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_002087.4(GRN):c.592_593del (p.Arg198fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003766923]|not provided [RCV000518697] Chr17:44350571..44350572 [GRCh38]
Chr17:42427939..42427940 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1465_1469dup (p.Lys491fs) duplication not provided [RCV000517701] Chr17:44352391..44352392 [GRCh38]
Chr17:42429759..42429760 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1072C>T (p.Gln358Ter) single nucleotide variant GRN-related disorder [RCV004553130]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002527479]|not provided [RCV000517776] Chr17:44351688 [GRCh38]
Chr17:42429056 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(GRN):c.1742A>T (p.Asp581Val) single nucleotide variant GRN-related disorder [RCV004553131]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001404573]|Inborn genetic diseases [RCV002314901]|not specified [RCV000518609] Chr17:44352758 [GRCh38]
Chr17:42430126 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_002087.4(GRN):c.53C>T (p.Thr18Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000764130]|Inborn genetic diseases [RCV002350151]|not provided [RCV000521954] Chr17:44349217 [GRCh38]
Chr17:42426585 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.709-1G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000022595]|not provided [RCV004783729] Chr17:44351036 [GRCh38]
Chr17:42428404 [GRCh37]
Chr17:17q21.31		 pathogenic
GRN, IVS0DS, G-C, +5 single nucleotide variant Grn-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017379] Chr17:17q21.32 pathogenic
NM_002087.4(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_002087.4(GRN):c.388_391del (p.Gln130fs) deletion Frontotemporal dementia [RCV000736253]|GRN-related disorder [RCV003478976]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017384]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513074]|not provided [RCV000084442] Chr17:44350263..44350266 [GRCh38]
Chr17:42427631..42427634 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.835+1G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017385]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513075] Chr17:44351164 [GRCh38]
Chr17:42428532 [GRCh37]
Chr17:17q21.31		 pathogenic|likely 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_002087.4(GRN):c.1087_1088del (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_002087.4(GRN):c.898C>T (p.Gln300Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001218285]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003234777]|not provided [RCV000517994] Chr17:44351425 [GRCh38]
Chr17:42428793 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.6G>A (p.Trp2Ter) single nucleotide variant not provided [RCV000516487] Chr17:44349170 [GRCh38]
Chr17:42426538 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.933+7del deletion GRN-related disorder [RCV004553241]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002530207] Chr17:44351467 [GRCh38]
Chr17:42428835 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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_002087.4(GRN):c.1578C>T (p.Phe526=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001494180] Chr17:44352505 [GRCh38]
Chr17:42429873 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.705C>A (p.Pro235=) single nucleotide variant GRN-related disorder [RCV004553132]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001410336]|Inborn genetic diseases [RCV002367718]|not specified [RCV000517062] Chr17:44350797 [GRCh38]
Chr17:42428165 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.599-1G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003766924]|not provided [RCV000516967] Chr17:44350690 [GRCh38]
Chr17:42428058 [GRCh37]
Chr17:17q21.31		 pathogenic|likely 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 [RCV000791344]|not provided [RCV001636606] Chr17:44352876 [GRCh38]
Chr17:44352876..44352877 [GRCh38]
Chr17:42430244 [GRCh37]
Chr17:42430244..42430245 [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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513073]|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851887]|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 disorder [RCV004755740]|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_002087.4(GRN):c.813_816del (p.Thr272fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000017393]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001851888]|Neuronal ceroid lipofuscinosis 11 [RCV000029169]|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854478]|not provided [RCV000084472] Chr17:44351759..44351760 [GRCh38]
Chr17:42429127..42429128 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(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]|Inborn genetic diseases [RCV002311746]|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_002087.4(GRN):c.87_90dup (p.Cys31fs) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004786363]|not provided [RCV000084424] Chr17:44349248..44349249 [GRCh38]
Chr17:42426616..42426617 [GRCh37]
Chr17:17q21.31		 pathogenic|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]|Inborn genetic diseases [RCV002313838]|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002055247]|not provided [RCV000084426] Chr17:44349266 [GRCh38]
Chr17:42426634 [GRCh37]
Chr17:17q21.31		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002087.4(GRN):c.102del (p.Gly35fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001241659]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002281919]|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_002087.4(GRN):c.154del (p.Thr52fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002281920]|not provided [RCV000084429] Chr17:44349440 [GRCh38]
Chr17:42426808 [GRCh37]
Chr17:17q21.31		 pathogenic|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_002087.4(GRN):c.243del (p.Ser82fs) deletion not provided [RCV000084431] Chr17:44349529 [GRCh38]
Chr17:42426897 [GRCh37]
Chr17:17q21.31		 pathogenic|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000767861]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001387934]|Neuronal ceroid lipofuscinosis 11 [RCV001291777]|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]|Inborn genetic diseases [RCV002453414]|not provided [RCV000084437] Chr17:44350237 [GRCh38]
Chr17:42427605 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance|not provided
NM_002087.4(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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001516285]|Inborn genetic diseases [RCV002311747]|not provided [RCV000084440]|not specified [RCV000251569] Chr17:44350262 [GRCh38]
Chr17:42427630 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(GRN):c.384_387del (p.Gln130fs) deletion not provided [RCV000084441] Chr17:44350262..44350265 [GRCh38]
Chr17:42427630..42427633 [GRCh37]
Chr17:17q21.31		 pathogenic|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 GRN-related disorder [RCV004755767]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854474]|Inborn genetic diseases [RCV002326804]|not provided [RCV000084443] Chr17:44350299 [GRCh38]
Chr17:42427667 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance|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_002087.4(GRN):c.468_474del (p.Cys157fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514497]|not provided [RCV000084445] Chr17:44350447..44350453 [GRCh38]
Chr17:42427815..42427821 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) single nucleotide variant not provided [RCV000084446]|not specified [RCV003330429] Chr17:44350452 [GRCh38]
Chr17:42427820 [GRCh37]
Chr17:17q21.31		 uncertain significance|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]|Inborn genetic diseases [RCV002316278]|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 disorder [RCV004755768]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000815880]|Inborn genetic diseases [RCV002513901]|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854475]|Inborn genetic diseases [RCV002316279]|not provided [RCV000084450]|not specified [RCV004782053] 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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514498]|not provided [RCV000084451] Chr17:44350800 [GRCh38]
Chr17:42428168 [GRCh37]
Chr17:17q21.31		 likely benign|not provided
NM_002087.4(GRN):c.708+1G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384760]|not provided [RCV000084452] Chr17:44350801 [GRCh38]
Chr17:42428169 [GRCh37]
Chr17:17q21.31		 pathogenic|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]|Primary progressive aphasia [RCV001824019]|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514499]|not provided [RCV000084454] Chr17:44351071 [GRCh38]
Chr17:42428439 [GRCh37]
Chr17:17q21.31		 uncertain significance|not provided
NM_002087.4(GRN):c.759_760del (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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854476]|not provided [RCV000084456] Chr17:44351101 [GRCh38]
Chr17:42428469 [GRCh37]
Chr17:17q21.31		 uncertain significance|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513902]|not provided [RCV000084458] Chr17:44351132 [GRCh38]
Chr17:42428500 [GRCh37]
Chr17:17q21.31		 likely benign|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514500]|not provided [RCV000084461] Chr17:44351388 [GRCh38]
Chr17:42428756 [GRCh37]
Chr17:17q21.31		 uncertain significance|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]|Inborn genetic diseases [RCV002316280]|not provided [RCV000084462]|not specified [RCV000516232] Chr17:44351430 [GRCh38]
Chr17:42428798 [GRCh37]
Chr17:17q21.31		 benign|likely benign|not provided
NM_002087.4(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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854477]|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 disorder [RCV004549523]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000706214]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128038]|Inborn genetic diseases [RCV002381407]|not provided [RCV000084468]|not specified [RCV001727569] 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_002087.4(GRN):c.998del (p.Gly333fs) deletion Primary progressive aphasia [RCV002281921]|not provided [RCV000084470] Chr17:44351612 [GRCh38]
Chr17:42428980 [GRCh37]
Chr17:17q21.31		 pathogenic|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		 pathogenic|not provided
NM_002087.4(GRN):c.1145del (p.Thr382fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384761]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004786364]|not provided [RCV000084473] Chr17:44351761 [GRCh38]
Chr17:42429129 [GRCh37]
Chr17:17q21.31		 pathogenic|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_002087.4(GRN):c.1231_1232del (p.Val411fs) microsatellite not provided [RCV000084477] Chr17:44352062..44352063 [GRCh38]
Chr17:42429430..42429431 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(GRN):c.1231_1232dup (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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002513903]|Inborn genetic diseases [RCV002513904]|not provided [RCV000084479] Chr17:44352076 [GRCh38]
Chr17:42429444 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) single nucleotide variant Amyotrophic lateral sclerosis type 10 [RCV002463638]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995559]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001390599]|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]|Inborn genetic diseases [RCV002514501]|not provided [RCV000084481]|not specified [RCV001705812] Chr17:44352088 [GRCh38]
Chr17:42429456 [GRCh37]
Chr17:17q21.31		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002087.4(GRN):c.1294C>T (p.Arg432Cys) single nucleotide variant GRN-related disorder [RCV004755769]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002514502]|Inborn genetic diseases [RCV002316281]|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]|Inborn genetic diseases [RCV002313839]|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 disorder [RCV004549524]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001086557]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122277]|Inborn genetic diseases [RCV002381408]|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854479]|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854480]|not provided [RCV000084488] Chr17:44352244 [GRCh38]
Chr17:42429612 [GRCh37]
Chr17:17q21.31		 uncertain significance|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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001854481]|Inborn genetic diseases [RCV002316282]|not provided [RCV000084490] Chr17:44352352 [GRCh38]
Chr17:42429720 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance|not provided
NM_002087.4(GRN):c.1485C>T (p.Cys495=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001459515]|not provided [RCV000084492] Chr17:44352412 [GRCh38]
Chr17:42429780 [GRCh37]
Chr17:17q21.31		 likely benign|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]|Inborn genetic diseases [RCV002311748]|not provided [RCV000084493]|not specified [RCV001725967] 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 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001431378]|not provided [RCV000084497] Chr17:44352711 [GRCh38]
Chr17:42430079 [GRCh37]
Chr17:17q21.31		 likely benign|not provided
NM_002087.4(GRN):c.380_381del (p.Pro127fs) deletion not provided [RCV000084583] Chr17:44350258..44350259 [GRCh38]
Chr17:42427626..42427627 [GRCh37]
Chr17:17q21.31		 not provided
NM_002087.4(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_002087.4(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_002087.4(GRN):c.234_235del (p.Gly79fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003764781]|not provided [RCV000084587] Chr17:44349521..44349522 [GRCh38]
Chr17:42426889..42426890 [GRCh37]
Chr17:17q21.31		 pathogenic|not provided
NM_002087.4(GRN):c.1626C>T (p.Ala542=) single nucleotide variant not provided [RCV000122498] Chr17:44352553 [GRCh38]
Chr17:42429921 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1298G>A (p.Arg433Gln) single nucleotide variant GRN-related disorder [RCV004552960]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873788]|Inborn genetic diseases [RCV002313029]|not specified [RCV000174062] Chr17:44352133 [GRCh38]
Chr17:42429501 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(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]|Inborn genetic diseases [RCV002311950]|not provided [RCV001550117] Chr17:44349206 [GRCh38]
Chr17:42426574 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(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_002087.4(GRN):c.462+1G>C single nucleotide variant Frontotemporal dementia [RCV000185610] Chr17:44350341 [GRCh38]
Chr17:42427709 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(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_002087.4(GRN):c.1212C>A (p.Cys404Ter) single nucleotide variant Frontotemporal dementia [RCV000185612] Chr17:44352047 [GRCh38]
Chr17:42429415 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1246dup (p.Cys416fs) duplication Frontotemporal dementia [RCV000185613] Chr17:44352080..44352081 [GRCh38]
Chr17:42429448..42429449 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.87dup (p.Cys30fs) duplication Frontotemporal dementia [RCV000185614]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001852413] Chr17:44349249..44349250 [GRCh38]
Chr17:42426617..42426618 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.708+1G>A single nucleotide variant Frontotemporal dementia [RCV000185615]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000503399]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003765160]|not provided [RCV000513518] Chr17:44350801 [GRCh38]
Chr17:42428169 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(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_002087.4(GRN):c.546G>A (p.Thr182=) single nucleotide variant GRN-related disorder [RCV004547632]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576787]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876309]|Inborn genetic diseases [RCV002311379]|not provided [RCV001731549] Chr17:44350525 [GRCh38]
Chr17:42427893 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.1227G>A (p.Thr409=) single nucleotide variant GRN-related disorder [RCV004547631]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000576303]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000876310]|Inborn genetic diseases [RCV002311378]|not provided [RCV001550419]|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_002087.4(GRN):c.*280G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000263809]|not provided [RCV001548509] 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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001523483]|not provided [RCV003422286]|not specified [RCV000732358] Chr17:44345270 [GRCh38]
Chr17:42422638 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.1641C>T (p.Arg547=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000267441]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003765880]|Inborn genetic diseases [RCV002402044]|not specified [RCV001660668] Chr17:44352568 [GRCh38]
Chr17:42429936 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1407G>A (p.Leu469=) single nucleotide variant not provided [RCV000584933] Chr17:44352242 [GRCh38]
Chr17:42429610 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1088_1112del (p.Asp363fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004813021] Chr17:44351702..44351726 [GRCh38]
Chr17:42429070..42429094 [GRCh37]		 likely pathogenic
NM_002087.4(GRN):c.-8+236G>A single nucleotide variant not provided [RCV002285754] Chr17:44345570 [GRCh38]
Chr17:42422938 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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_002087.4(GRN):c.100C>G (p.Pro34Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000315887]|Inborn genetic diseases [RCV003168477] Chr17:44349264 [GRCh38]
Chr17:42426632 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(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_002087.4(GRN):c.497C>T (p.Pro166Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000402382]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001850729] Chr17:44350476 [GRCh38]
Chr17:42427844 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1647C>T (p.Gly549=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000317858]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002522981] Chr17:44352663 [GRCh38]
Chr17:42430031 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.393C>T (p.Phe131=) single nucleotide variant Frontotemporal dementia [RCV000349606]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002056604] Chr17:44350271 [GRCh38]
Chr17:42427639 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.3(GRN):c.-45C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000323977]|not provided [RCV000675672]|not specified [RCV001660667] Chr17:44345297 [GRCh38]
Chr17:42422665 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1120TCC[1] (p.Ser375del) microsatellite Frontotemporal dementia [RCV000310685]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002522980]|Inborn genetic diseases [RCV002317839] 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_002087.4(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_002087.4(GRN):c.1352C>T (p.Pro451Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002481698]|not provided [RCV000523710] Chr17:44352187 [GRCh38]
Chr17:42429555 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.22G>A (p.Val8Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002477697]|not provided [RCV000729976] Chr17:44349186 [GRCh38]
Chr17:42426554 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(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_002087.4(GRN):c.1486G>A (p.Glu496Lys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002524196]|not specified [RCV000504550] Chr17:44352413 [GRCh38]
Chr17:42429781 [GRCh37]
Chr17:17q21.31		 pathogenic|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_002087.4(GRN):c.1438C>T (p.His480Tyr) single nucleotide variant Neuronal ceroid lipofuscinosis 11 [RCV000626099]|not provided [RCV004691945] Chr17:44352365 [GRCh38]
Chr17:42429733 [GRCh37]
Chr17:17q21.31		 likely pathogenic|uncertain significance
NM_002087.4(GRN):c.8C>T (p.Thr3Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003779907]|Inborn genetic diseases [RCV003284827] Chr17:44349172 [GRCh38]
Chr17:42426540 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(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_002087.4(GRN):c.513C>T (p.Cys171=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000533654]|Inborn genetic diseases [RCV002316578] Chr17:44350492 [GRCh38]
Chr17:42427860 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1036_1038del (p.Glu346del) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002476024]|not provided [RCV000512785] Chr17:44351651..44351653 [GRCh38]
Chr17:42429019..42429021 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.-14G>C single nucleotide variant not provided [RCV000675673] Chr17:44345328 [GRCh38]
Chr17:42422696 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.264+21G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001702546]|Neuronal ceroid lipofuscinosis 11 [RCV001703232]|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_002087.4(GRN):c.-8+3A>G single nucleotide variant not provided [RCV000658784] Chr17:44345337 [GRCh38]
Chr17:42422705 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.462+24G>A single nucleotide variant not provided [RCV000675675] Chr17:44350364 [GRCh38]
Chr17:42427732 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.238A>T (p.Thr80Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868346]|Inborn genetic diseases [RCV002314542]|not provided [RCV001766576] Chr17:44349525 [GRCh38]
Chr17:42426893 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.568A>C (p.Lys190Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862028]|Inborn genetic diseases [RCV002314435] Chr17:44350547 [GRCh38]
Chr17:42427915 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.157C>G (p.Leu53Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862033]|Inborn genetic diseases [RCV002314541]|not provided [RCV001766575] Chr17:44349444 [GRCh38]
Chr17:42426812 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.302G>A (p.Arg101Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862013]|Inborn genetic diseases [RCV002312278] Chr17:44349704 [GRCh38]
Chr17:42427072 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.828G>T (p.Ala276=) single nucleotide variant not provided [RCV000675676] Chr17:44351156 [GRCh38]
Chr17:42428524 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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_002087.4(GRN):c.1073_1074dup (p.Ala359fs) duplication not provided [RCV000712525] Chr17:44351688..44351689 [GRCh38]
Chr17:42429056..42429057 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001861975]|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_002087.4(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_002087.4(GRN):c.634C>T (p.Arg212Trp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862034]|Inborn genetic diseases [RCV002314573] Chr17:44350726 [GRCh38]
Chr17:42428094 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1540G>A (p.Val514Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001330687]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862017]|Inborn genetic diseases [RCV002312438]|not provided [RCV002510968] Chr17:44352467 [GRCh38]
Chr17:42429835 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(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_002087.4(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_002087.4(GRN):c.228C>T (p.Thr76=) single nucleotide variant GRN-related disorder [RCV004547887]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001079009]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124957]|Inborn genetic diseases [RCV002442547]|not provided [RCV000712528] Chr17:44349515 [GRCh38]
Chr17:42426883 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.708+6_708+9del microsatellite GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000822240]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003994095]|Inborn genetic diseases [RCV002360847]|not provided [RCV000712530] Chr17:44350801..44350804 [GRCh38]
Chr17:42428169..42428172 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|uncertain significance
NM_002087.4(GRN):c.232dup (p.Ser78fs) duplication Frontotemporal dementia [RCV000736257]|GRN-related disorder [RCV004547944] Chr17:44349518..44349519 [GRCh38]
Chr17:42426886..42426887 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(GRN):c.287A>G (p.His96Arg) single nucleotide variant GRN-related disorder [RCV004547891]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868342]|Inborn genetic diseases [RCV002312349] Chr17:44349689 [GRCh38]
Chr17:42427057 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.139-3T>C single nucleotide variant GRN-related disorder [RCV004547902]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001124956]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001207054]|Inborn genetic diseases [RCV002313697]|not provided [RCV001702835] Chr17:44349423 [GRCh38]
Chr17:42426791 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1180-3C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868358]|Inborn genetic diseases [RCV002318665] Chr17:44352012 [GRCh38]
Chr17:42429380 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1555G>A (p.Val519Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001305766]|Inborn genetic diseases [RCV002313574]|not provided [RCV003229857] Chr17:44352482 [GRCh38]
Chr17:42429850 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000873800]|Inborn genetic diseases [RCV002317979]|not provided [RCV001662791]|not specified [RCV001662792] Chr17:44350271 [GRCh38]
Chr17:42427639 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_002087.4(GRN):c.1432C>T (p.Arg478Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002534977]|Inborn genetic diseases [RCV002318156] Chr17:44352359 [GRCh38]
Chr17:42429727 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.892C>T (p.Arg298Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002533054]|Inborn genetic diseases [RCV002317615] Chr17:44351419 [GRCh38]
Chr17:42428787 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.803C>T (p.Thr268Met) single nucleotide variant GRN-related disorder [RCV004756021]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000817892]|Inborn genetic diseases [RCV002318177]|not provided [RCV002473126] Chr17:44351131 [GRCh38]
Chr17:42428499 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.385dup (p.Ser129fs) duplication Frontotemporal dementia [RCV000736256] Chr17:44350262..44350263 [GRCh38]
Chr17:42427630..42427631 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1179G>A (p.Glu393=) single nucleotide variant Frontotemporal dementia [RCV000736255] Chr17:44351795 [GRCh38]
Chr17:42429163 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.560del (p.Leu187fs) deletion Frontotemporal dementia [RCV000736254] Chr17:44350539 [GRCh38]
Chr17:42427907 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.776dup (p.Cys260fs) duplication Frontotemporal dementia [RCV000736251]|not provided [RCV002292578] Chr17:44351102..44351103 [GRCh38]
Chr17:42428470..42428471 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.264+1G>A single nucleotide variant Alzheimer disease [RCV000736249]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001869013] Chr17:44349552 [GRCh38]
Chr17:42426920 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.759_760dup (p.Asp254fs) microsatellite Frontotemporal dementia [RCV000736248] Chr17:44351080..44351081 [GRCh38]
Chr17:42428448..42428449 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.522_523insTGTGAAGACAGGGTGCACTGCTGTC (p.His175fs) insertion Frontotemporal dementia [RCV000736247] Chr17:44350501..44350502 [GRCh38]
Chr17:42427869..42427870 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.827C>T (p.Ala276Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862050]|Inborn genetic diseases [RCV002315486] Chr17:44351155 [GRCh38]
Chr17:42428523 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.329G>A (p.Arg110Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002533029]|Inborn genetic diseases [RCV002318116] Chr17:44349731 [GRCh38]
Chr17:42427099 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1736G>A (p.Arg579His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000820629]|Inborn genetic diseases [RCV002317530]|not specified [RCV004800558] Chr17:44352752 [GRCh38]
Chr17:42430120 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1497G>C (p.Val499=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002534975]|Inborn genetic diseases [RCV002317572]|not provided [RCV003884719] Chr17:44352424 [GRCh38]
Chr17:42429792 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.615G>A (p.Ser205=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001862089]|Inborn genetic diseases [RCV002318320] Chr17:44350707 [GRCh38]
Chr17:42428075 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.415T>C (p.Cys139Arg) single nucleotide variant GRN-related disorder [RCV004547911]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001212605]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003989589]|Inborn genetic diseases [RCV002318150]|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_002087.4(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_002087.4(GRN):c.1269G>A (p.Val423=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001438175] Chr17:44352104 [GRCh38]
Chr17:42429472 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.360C>T (p.Ser120=) single nucleotide variant GRN-related disorder [RCV004551661]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001430492] Chr17:44350238 [GRCh38]
Chr17:42427606 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.253C>G (p.Pro85Ala) single nucleotide variant GRN-related disorder [RCV004553533]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002067595]|Inborn genetic diseases [RCV002454237]|not provided [RCV000992526] Chr17:44349540 [GRCh38]
Chr17:42426908 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_002087.4(GRN):c.768_769dup (p.Gln257fs) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989928]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001858715]|not provided [RCV000992528] Chr17:44351095..44351096 [GRCh38]
Chr17:42428463..42428464 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.690C>T (p.Gly230=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002066355]|Inborn genetic diseases [RCV002372664] Chr17:44350782 [GRCh38]
Chr17:42428150 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.918C>A (p.Cys306Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995558]|not provided [RCV003886462] Chr17:44351445 [GRCh38]
Chr17:42428813 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(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_002087.4(GRN):c.349+1G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000995780]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001858821] Chr17:44349752 [GRCh38]
Chr17:42427120 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(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_002087.4(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_002087.4(GRN):c.229G>A (p.Val77Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000806404]|not provided [RCV003884738]|not specified [RCV002307621] Chr17:44349516 [GRCh38]
Chr17:42426884 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.708+8A>T single nucleotide variant GRN-related disorder [RCV004549971]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002064751]|not provided [RCV000874038] Chr17:44350808 [GRCh38]
Chr17:42428176 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.630C>T (p.Asp210=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002065660] Chr17:44350722 [GRCh38]
Chr17:42428090 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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_002087.4(GRN):c.891C>T (p.Cys297=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002065481] Chr17:44351418 [GRCh38]
Chr17:42428786 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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_002087.4(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_002087.4(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_002087.4(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_002087.4(GRN):c.1112G>C (p.Ser371Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001869374]|Inborn genetic diseases [RCV002550640]|not provided [RCV000992525] Chr17:44351728 [GRCh38]
Chr17:42429096 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(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_002087.4(GRN):c.1126G>A (p.Asp376Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002064867]|Inborn genetic diseases [RCV002444966] 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_002087.4(GRN):c.442G>A (p.Gly148Arg) single nucleotide variant GRN-related disorder [RCV004756041]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000799711]|Inborn genetic diseases [RCV002332623]|not provided [RCV003318639] Chr17:44350320 [GRCh38]
Chr17:42427688 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1010_1011del (p.Gln337fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002550639]|not provided [RCV000992524] Chr17:44351626..44351627 [GRCh38]
Chr17:42428994..42428995 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(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]|not provided [RCV001751423] Chr17:44350260..44350263 [GRCh38]
Chr17:42427628..42427631 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(GRN):c.662G>C (p.Cys221Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001204178]|Neuronal ceroid lipofuscinosis 11 [RCV004720297] Chr17:44350754 [GRCh38]
Chr17:42428122 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.7A>G (p.Thr3Ala) single nucleotide variant Neuronal ceroid lipofuscinosis 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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556706] Chr17:44349221 [GRCh38]
Chr17:42426589 [GRCh37]
Chr17:17q21.31		 likely benign|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]|not provided [RCV001593285] Chr17:44349263 [GRCh38]
Chr17:42426631 [GRCh37]
Chr17:17q21.31		 likely benign|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003769226] Chr17:44352007 [GRCh38]
Chr17:42429375 [GRCh37]
Chr17:17q21.31		 likely benign|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]|not provided [RCV003425938] Chr17:44352445 [GRCh38]
Chr17:42429813 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1521C>T (p.Phe507=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001122281]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556633] Chr17:44352448 [GRCh38]
Chr17:42429816 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.626C>T (p.Pro209Leu) single nucleotide variant GRN-related disorder [RCV004548005]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001125934]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001472771]|Inborn genetic diseases [RCV002365805] Chr17:44350718 [GRCh38]
Chr17:42428086 [GRCh37]
Chr17:17q21.31		 benign|likely benign|uncertain significance
NM_002087.4(GRN):c.1645-40C>T single nucleotide variant not provided [RCV001585417] Chr17:44352621 [GRCh38]
Chr17:42429989 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.-7-75A>G single nucleotide variant not provided [RCV001561128] Chr17:44349083 [GRCh38]
Chr17:42426451 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1449G>A (p.Pro483=) single nucleotide variant GRN-related disorder [RCV004756130]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002066325]|not provided [RCV004705961] Chr17:44352376 [GRCh38]
Chr17:42429744 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1071A>T (p.Pro357=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002540059] Chr17:44351687 [GRCh38]
Chr17:42429055 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001856671] Chr17:44351475 [GRCh38]
Chr17:42428843 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1019A>T (p.His340Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001128039]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001856672]|Inborn genetic diseases [RCV002365806] Chr17:44351635 [GRCh38]
Chr17:42429003 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
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_002087.4(GRN):c.745C>T (p.Gln249Ter) single nucleotide variant not provided [RCV000992527] Chr17:44351073 [GRCh38]
Chr17:42428441 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.933+7A>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000933973]|not provided [RCV004704340] Chr17:44351467 [GRCh38]
Chr17:42428835 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1146G>A (p.Thr382=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001398870]|not provided [RCV004808967] Chr17:44351762 [GRCh38]
Chr17:42429130 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.54G>A (p.Thr18=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002542302]|not provided [RCV000935535] Chr17:44349218 [GRCh38]
Chr17:42426586 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.350-50_350-47dup duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV000989927]|not provided [RCV001619874] Chr17:44350176..44350177 [GRCh38]
Chr17:42427544..42427545 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.52A>G (p.Thr18Ala) single nucleotide variant Parkinsonian disorder [RCV002251715] Chr17:44349216 [GRCh38]
Chr17:42426584 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.349+32G>C single nucleotide variant not provided [RCV001556123] Chr17:44349783 [GRCh38]
Chr17:42427151 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.-8+50dup duplication not provided [RCV001608363] Chr17:44345383..44345384 [GRCh38]
Chr17:42422751..42422752 [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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002070054]|not provided [RCV001579636] Chr17:44351025 [GRCh38]
Chr17:42428393 [GRCh37]
Chr17:17q21.31		 likely benign|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002556711] Chr17:44352475 [GRCh38]
Chr17:42429843 [GRCh37]
Chr17:17q21.31		 likely benign|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]|Inborn genetic diseases [RCV002339512]|not provided [RCV003413991] 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		 likely benign|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]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002570552]|not provided [RCV002224041] Chr17:44349267 [GRCh38]
Chr17:42426635 [GRCh37]
Chr17:17q21.31		 pathogenic|uncertain significance
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.836-8C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001422935]|not specified [RCV004699373] Chr17:44351355 [GRCh38]
Chr17:42428723 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.100C>T (p.Pro34Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001360798] Chr17:44349264 [GRCh38]
Chr17:42426632 [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]|Inborn genetic diseases [RCV002411982]|not provided [RCV004809558] 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.1138C>G (p.Gln380Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001367112] Chr17:44351754 [GRCh38]
Chr17:42429122 [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
NM_002087.4(GRN):c.1691G>A (p.Arg564His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002564193]|not provided [RCV001507391] Chr17:44352707 [GRCh38]
Chr17:42430075 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.299del (p.Pro100fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001389661] Chr17:44349699 [GRCh38]
Chr17:42427067 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1743C>T (p.Asp581=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001475974] Chr17:44352759 [GRCh38]
Chr17:42430127 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.501C>T (p.His167=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001405589] Chr17:44350480 [GRCh38]
Chr17:42427848 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.-7-320C>G single nucleotide variant not provided [RCV001643496] Chr17:44348838 [GRCh38]
Chr17:42426206 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.78C>A (p.Cys26Ter) single nucleotide variant not provided [RCV001543435] Chr17:44349242 [GRCh38]
Chr17:42426610 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.934-8del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001440420] Chr17:44351542 [GRCh38]
Chr17:42428910 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1496del (p.Val499fs) deletion not provided [RCV001531263] Chr17:44352423 [GRCh38]
Chr17:42429791 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.276C>T (p.Cys92=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002070434]|Inborn genetic diseases [RCV002440824]|not provided [RCV001585365] Chr17:44349678 [GRCh38]
Chr17:42427046 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.321A>C (p.Ala107=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001498903] Chr17:44349723 [GRCh38]
Chr17:42427091 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.614C>A (p.Ser205Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001384779] Chr17:44350706 [GRCh38]
Chr17:42428074 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.599-54G>A single nucleotide variant not provided [RCV001732701] Chr17:44350637 [GRCh38]
Chr17:42428005 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.740G>A (p.Cys247Tyr) single nucleotide variant not provided [RCV001756614] Chr17:44351068 [GRCh38]
Chr17:42428436 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1562G>A (p.Cys521Tyr) single nucleotide variant GRN-related disorder [RCV004551998]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001861050]|not provided [RCV001756615] Chr17:44352489 [GRCh38]
Chr17:42429857 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.463-1G>C single nucleotide variant not provided [RCV001783404] Chr17:44350441 [GRCh38]
Chr17:42427809 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1636T>C (p.Tyr546His) single nucleotide variant not provided [RCV001763871] Chr17:44352563 [GRCh38]
Chr17:42429931 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.280G>A (p.Asp94Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868448]|not provided [RCV001765556] Chr17:44349682 [GRCh38]
Chr17:42427050 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.254C>T (p.Pro85Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001868892]|not provided [RCV001794715] Chr17:44349541 [GRCh38]
Chr17:42426909 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1216del (p.Gln406fs) deletion not provided [RCV001816204] Chr17:44352047 [GRCh38]
Chr17:42429415 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.139-2A>G single nucleotide variant not provided [RCV001782236] Chr17:44349424 [GRCh38]
Chr17:42426792 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.1498G>A (p.Val500Ile) single nucleotide variant not provided [RCV004798200] Chr17:44352425 [GRCh38]
Chr17:42429793 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.530G>A (p.Arg177His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001907975] Chr17:44350509 [GRCh38]
Chr17:42427877 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1672_1673delinsGA (p.Cys558Asp) indel not provided [RCV002224092]|not specified [RCV001815073] Chr17:44352688..44352689 [GRCh38]
Chr17:42430056..42430057 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.463-5C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001914518] Chr17:44350437 [GRCh38]
Chr17:42427805 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1373C>G (p.Pro458Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001971271] Chr17:44352208 [GRCh38]
Chr17:42429576 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1216C>T (p.Gln406Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001970022] Chr17:44352051 [GRCh38]
Chr17:42429419 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1244A>T (p.Gln415Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001970521] Chr17:44352079 [GRCh38]
Chr17:42429447 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.325G>A (p.Gly109Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001895773] Chr17:44349727 [GRCh38]
Chr17:42427095 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.701T>G (p.Met234Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001926942] Chr17:44350793 [GRCh38]
Chr17:42428161 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.301C>T (p.Arg101Trp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002020554] Chr17:44349703 [GRCh38]
Chr17:42427071 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1712A>G (p.Lys571Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001986104]|Inborn genetic diseases [RCV004045330] Chr17:44352728 [GRCh38]
Chr17:42430096 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.658A>G (p.Thr220Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002022155] Chr17:44350750 [GRCh38]
Chr17:42428118 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.627G>A (p.Pro209=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021371] Chr17:44350719 [GRCh38]
Chr17:42428087 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1514C>G (p.Ala505Gly) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021709]|Inborn genetic diseases [RCV002391132] Chr17:44352441 [GRCh38]
Chr17:42429809 [GRCh37]
Chr17:17q21.31		 uncertain significance
NC_000017.10:g.(?_42426434)_(42430018_?)del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001949399] Chr17:42426434..42430018 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.529C>T (p.Arg177Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021418] Chr17:44350508 [GRCh38]
Chr17:42427876 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.160A>G (p.Ser54Gly) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001910389] Chr17:44349447 [GRCh38]
Chr17:42426815 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1604G>A (p.Arg535Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001893561] Chr17:44352531 [GRCh38]
Chr17:42429899 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.361G>A (p.Val121Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002006897]|not provided [RCV003130674] Chr17:44350239 [GRCh38]
Chr17:42427607 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1499T>C (p.Val500Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021012] Chr17:44352426 [GRCh38]
Chr17:42429794 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1153del (p.Glu385fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001872638] Chr17:44351766 [GRCh38]
Chr17:42429134 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.62C>T (p.Pro21Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001912397] Chr17:44349226 [GRCh38]
Chr17:42426594 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.902C>T (p.Ser301Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002006513] Chr17:44351429 [GRCh38]
Chr17:42428797 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.128G>A (p.Arg43His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002021401]|Inborn genetic diseases [RCV002386925]|not provided [RCV002300644] Chr17:44349292 [GRCh38]
Chr17:42426660 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.989C>T (p.Thr330Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001888643]|Inborn genetic diseases [RCV004041108] Chr17:44351605 [GRCh38]
Chr17:42428973 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.39dup (p.Leu14fs) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002037823] Chr17:44349200..44349201 [GRCh38]
Chr17:42426568..42426569 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.110C>T (p.Ala37Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002028798] Chr17:44349274 [GRCh38]
Chr17:42426642 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1A>G (p.Met1Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002047593] Chr17:44349165 [GRCh38]
Chr17:42426533 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1433G>A (p.Arg478His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001940170] Chr17:44352360 [GRCh38]
Chr17:42429728 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1243C>G (p.Gln415Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001999629] Chr17:44352078 [GRCh38]
Chr17:42429446 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1145C>T (p.Thr382Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002036950] Chr17:44351761 [GRCh38]
Chr17:42429129 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1355T>A (p.Val452Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001916509] Chr17:44352190 [GRCh38]
Chr17:42429558 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.332C>T (p.Ser111Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002015589]|not provided [RCV002077353] Chr17:44349734 [GRCh38]
Chr17:42427102 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1460C>T (p.Thr487Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002031067] Chr17:44352387 [GRCh38]
Chr17:42429755 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1261G>A (p.Glu421Lys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001879151] Chr17:44352096 [GRCh38]
Chr17:42429464 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.775_778del (p.Lys259fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001953608] Chr17:44351100..44351103 [GRCh38]
Chr17:42428468..42428471 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.427G>T (p.Val143Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001919399] Chr17:44350305 [GRCh38]
Chr17:42427673 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.208G>A (p.Gly70Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001997782] Chr17:44349495 [GRCh38]
Chr17:42426863 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.502G>A (p.Gly168Ser) single nucleotide variant GRN-related disorder [RCV004553632]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002016673] Chr17:44350481 [GRCh38]
Chr17:42427849 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.56G>A (p.Arg19Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001952401] Chr17:44349220 [GRCh38]
Chr17:42426588 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.934-1G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001996070] Chr17:44351549 [GRCh38]
Chr17:42428917 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic
NM_002087.4(GRN):c.1080G>C (p.Leu360Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002029010] Chr17:44351696 [GRCh38]
Chr17:42429064 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.620T>C (p.Met207Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001978142]|not specified [RCV003235644] Chr17:44350712 [GRCh38]
Chr17:42428080 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1735C>T (p.Arg579Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001938835]|Primary progressive aphasia [RCV003994358] Chr17:44352751 [GRCh38]
Chr17:42430119 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1152G>T (p.Gly384=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001994418] Chr17:44351768 [GRCh38]
Chr17:42429136 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.708+2dup duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001977176] Chr17:44350801..44350802 [GRCh38]
Chr17:42428169..42428170 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1019A>G (p.His340Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002034077] Chr17:44351635 [GRCh38]
Chr17:42429003 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.796G>C (p.Ala266Pro) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001883987]|not provided [RCV003136255] Chr17:44351124 [GRCh38]
Chr17:42428492 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.879C>G (p.Gly293=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001998595] Chr17:44351406 [GRCh38]
Chr17:42428774 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.796G>A (p.Ala266Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001959810] Chr17:44351124 [GRCh38]
Chr17:42428492 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1180-7C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001940794] Chr17:44352008 [GRCh38]
Chr17:42429376 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.493T>C (p.Cys165Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001905974] Chr17:44350472 [GRCh38]
Chr17:42427840 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.352AAC[1] (p.Asn119del) microsatellite Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 [RCV002290799]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001925611] Chr17:44350230..44350232 [GRCh38]
Chr17:42427598..42427600 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.549C>T (p.Gly183=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001915891] Chr17:44350528 [GRCh38]
Chr17:42427896 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.881A>G (p.Tyr294Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001902803]|Inborn genetic diseases [RCV003375403] Chr17:44351408 [GRCh38]
Chr17:42428776 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.456_457delinsAT (p.Met152_Pro153delinsIleSer) indel GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001932575] Chr17:44350334..44350335 [GRCh38]
Chr17:42427702..42427703 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.394G>A (p.Glu132Lys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002026537] Chr17:44350272 [GRCh38]
Chr17:42427640 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1197C>A (p.Asp399Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001991230] Chr17:44352032 [GRCh38]
Chr17:42429400 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1464C>T (p.Cys488=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001882029] Chr17:44352391 [GRCh38]
Chr17:42429759 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.709-8C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002189276] Chr17:44351029 [GRCh38]
Chr17:42428397 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.552C>T (p.Thr184=) single nucleotide variant GRN-related disorder [RCV004553666]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002189628]|Inborn genetic diseases [RCV002346361] Chr17:44350531 [GRCh38]
Chr17:42427899 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.990G>A (p.Thr330=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002165413] Chr17:44351606 [GRCh38]
Chr17:42428974 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.463-6dup duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002126025] Chr17:44350430..44350431 [GRCh38]
Chr17:42427798..42427799 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.1180-16C>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002129427] Chr17:44351999 [GRCh38]
Chr17:42429367 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1539C>T (p.His513=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002126138]|Inborn genetic diseases [RCV002400355]|not provided [RCV003426350] Chr17:44352466 [GRCh38]
Chr17:42429834 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.708+15G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002104684] Chr17:44350815 [GRCh38]
Chr17:42428183 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.414G>C (p.Thr138=) single nucleotide variant GRN-related disorder [RCV004553734]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002108236] Chr17:44350292 [GRCh38]
Chr17:42427660 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.402G>A (p.Pro134=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002148220] Chr17:44350280 [GRCh38]
Chr17:42427648 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.981G>A (p.Thr327=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002187679] Chr17:44351597 [GRCh38]
Chr17:42428965 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.873A>T (p.Pro291=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002092249] Chr17:44351400 [GRCh38]
Chr17:42428768 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.69T>C (p.Gly23=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002104827] Chr17:44349233 [GRCh38]
Chr17:42426601 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.933+11G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002215371] Chr17:44351471 [GRCh38]
Chr17:42428839 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.351T>G (p.Gly117=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002134422] Chr17:44350229 [GRCh38]
Chr17:42427597 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.349+16G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002207122] Chr17:44349767 [GRCh38]
Chr17:42427135 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1645-15C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002210707] Chr17:44352646 [GRCh38]
Chr17:42430014 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.129T>C (p.Arg43=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002173588] Chr17:44349293 [GRCh38]
Chr17:42426661 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1515C>T (p.Ala505=) single nucleotide variant GRN-related disorder [RCV004756356]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002207961]|Inborn genetic diseases [RCV002391207] Chr17:44352442 [GRCh38]
Chr17:42429810 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.498G>A (p.Pro166=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002076180] Chr17:44350477 [GRCh38]
Chr17:42427845 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1221C>A (p.Gly407=) single nucleotide variant GRN-related disorder [RCV004553795]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002116334] Chr17:44352056 [GRCh38]
Chr17:42429424 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1644+1G>A single nucleotide variant not provided [RCV002211402] Chr17:44352572 [GRCh38]
Chr17:42429940 [GRCh37]
Chr17:17q21.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_002087.4(GRN):c.267C>T (p.Ala89=) single nucleotide variant GRN-related disorder [RCV004553750]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002129614]|Inborn genetic diseases [RCV002427647] Chr17:44349669 [GRCh38]
Chr17:42427037 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_002087.4(GRN):c.882T>C (p.Tyr294=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002111539] Chr17:44351409 [GRCh38]
Chr17:42428777 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1497G>A (p.Val499=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002093295] Chr17:44352424 [GRCh38]
Chr17:42429792 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.327G>A (p.Gly109=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002116908] Chr17:44349729 [GRCh38]
Chr17:42427097 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1125C>T (p.Ser375=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002138813] Chr17:44351741 [GRCh38]
Chr17:42429109 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.836-7C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002137476] Chr17:44351356 [GRCh38]
Chr17:42428724 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.969C>T (p.Pro323=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002218551] Chr17:44351585 [GRCh38]
Chr17:42428953 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.429C>T (p.Val143=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002081765]|not provided [RCV004706366] Chr17:44350307 [GRCh38]
Chr17:42427675 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1395C>T (p.Ala465=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002162643] Chr17:44352230 [GRCh38]
Chr17:42429598 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.414G>A (p.Thr138=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002164339] Chr17:44350292 [GRCh38]
Chr17:42427660 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.660C>G (p.Thr220=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002082840] Chr17:44350752 [GRCh38]
Chr17:42428120 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1719G>A (p.Leu573=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002138733] Chr17:44352735 [GRCh38]
Chr17:42430103 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1326C>T (p.Ile442=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002220069] Chr17:44352161 [GRCh38]
Chr17:42429529 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1644+13C>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002162612] Chr17:44352584 [GRCh38]
Chr17:42429952 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.349+12G>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002163168] Chr17:44349763 [GRCh38]
Chr17:42427131 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.-8+46G>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002180876] Chr17:44345380 [GRCh38]
Chr17:42422748 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.1645-20G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002104115] Chr17:44352641 [GRCh38]
Chr17:42430009 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.240T>C (p.Thr80=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002123790] Chr17:44349527 [GRCh38]
Chr17:42426895 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.555C>T (p.His185=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002102657] Chr17:44350534 [GRCh38]
Chr17:42427902 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1030T>C (p.Trp344Arg) single nucleotide variant not provided [RCV004786002] Chr17:44351646 [GRCh38]
Chr17:42429014 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1414-15_1591del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003112381] Chr17:44352325..44352517 [GRCh38]
Chr17:42429693..42429885 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.1344C>T (p.Thr448=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003112765] Chr17:44352179 [GRCh38]
Chr17:42429547 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.795C>T (p.Asn265=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003116198] Chr17:44351123 [GRCh38]
Chr17:42428491 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.741C>T (p.Cys247=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003112873] Chr17:44351069 [GRCh38]
Chr17:42428437 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.784T>C (p.Ser262Pro) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003112874] Chr17:44351112 [GRCh38]
Chr17:42428480 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.349+19T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003115075] Chr17:44349770 [GRCh38]
Chr17:42427138 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1674C>T (p.Cys558=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003121202] Chr17:44352690 [GRCh38]
Chr17:42430058 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.530_543del (p.Arg177fs) deletion not provided [RCV003129150] Chr17:44350501..44350514 [GRCh38]
Chr17:42427869..42427882 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.599-2A>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002267555] Chr17:44350689 [GRCh38]
Chr17:42428057 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1097G>A (p.Cys366Tyr) single nucleotide variant not provided [RCV002263097] Chr17:44351713 [GRCh38]
Chr17:42429081 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.631G>A (p.Ala211Thr) single nucleotide variant not provided [RCV002263096] Chr17:44350723 [GRCh38]
Chr17:42428091 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1558G>T (p.Glu520Ter) single nucleotide variant not provided [RCV002263098] Chr17:44352485 [GRCh38]
Chr17:42429853 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1227G>T (p.Thr409=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003098318]|Inborn genetic diseases [RCV002366795] Chr17:44352062 [GRCh38]
Chr17:42429430 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.967_976del (p.Pro323fs) deletion Inborn genetic diseases [RCV002386979] Chr17:44351581..44351590 [GRCh38]
Chr17:42428949..42428958 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1153G>T (p.Glu385Ter) single nucleotide variant Inborn genetic diseases [RCV002351073] Chr17:44351769 [GRCh38]
Chr17:42429137 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.101C>T (p.Pro34Leu) single nucleotide variant Inborn genetic diseases [RCV002369315] Chr17:44349265 [GRCh38]
Chr17:42426633 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.430G>A (p.Asp144Asn) single nucleotide variant Inborn genetic diseases [RCV002331959] Chr17:44350308 [GRCh38]
Chr17:42427676 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.215C>T (p.Ser72Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002302926] Chr17:44349502 [GRCh38]
Chr17:42426870 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1511C>T (p.Pro504Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002727051] Chr17:44352438 [GRCh38]
Chr17:42429806 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.401C>T (p.Pro134Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003102502]|Inborn genetic diseases [RCV002375730] Chr17:44350279 [GRCh38]
Chr17:42427647 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.673C>T (p.Pro225Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002305324] Chr17:44350765 [GRCh38]
Chr17:42428133 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1667G>A (p.Arg556His) single nucleotide variant Inborn genetic diseases [RCV002403915] Chr17:44352683 [GRCh38]
Chr17:42430051 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1483T>C (p.Cys495Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002299370] Chr17:44352410 [GRCh38]
Chr17:42429778 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.545C>G (p.Thr182Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002299329] Chr17:44350524 [GRCh38]
Chr17:42427892 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1450G>T (p.Ala484Ser) single nucleotide variant Inborn genetic diseases [RCV002394606] Chr17:44352377 [GRCh38]
Chr17:42429745 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.24G>A (p.Val8=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003101892]|Inborn genetic diseases [RCV002431086] Chr17:44349188 [GRCh38]
Chr17:42426556 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1497G>T (p.Val499=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003095241]|Inborn genetic diseases [RCV002389823] Chr17:44352424 [GRCh38]
Chr17:42429792 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1744G>A (p.Ala582Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003097203]|Inborn genetic diseases [RCV002401461] Chr17:44352760 [GRCh38]
Chr17:42430128 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1388G>A (p.Ser463Asn) single nucleotide variant Inborn genetic diseases [RCV002396592] Chr17:44352223 [GRCh38]
Chr17:42429591 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1414-6C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002838281] Chr17:44352335 [GRCh38]
Chr17:42429703 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.998G>T (p.Gly333Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002615860] Chr17:44351614 [GRCh38]
Chr17:42428982 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.30A>C (p.Leu10Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003033498] Chr17:44349194 [GRCh38]
Chr17:42426562 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.784_787del (p.Ser262fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003032940] Chr17:44351112..44351115 [GRCh38]
Chr17:42428480..42428483 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.285C>T (p.Gly95=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002776086]|not provided [RCV003427505] Chr17:44349687 [GRCh38]
Chr17:42427055 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1267G>A (p.Val423Met) single nucleotide variant GRN-related disorder [RCV004548383]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002903192] Chr17:44352102 [GRCh38]
Chr17:42429470 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.724G>A (p.Asp242Asn) single nucleotide variant Inborn genetic diseases [RCV002840738] Chr17:44351052 [GRCh38]
Chr17:42428420 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.-8+5G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002780111] Chr17:44345339 [GRCh38]
Chr17:42422707 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.781C>T (p.Leu261Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002947924] Chr17:44351109 [GRCh38]
Chr17:42428477 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1730C>T (p.Ala577Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002614681] Chr17:44352746 [GRCh38]
Chr17:42430114 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.349+18del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002618417] Chr17:44349767 [GRCh38]
Chr17:42427135 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1759C>T (p.Pro587Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003777807]|Inborn genetic diseases [RCV002818425] Chr17:44352775 [GRCh38]
Chr17:42430143 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.413C>T (p.Thr138Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002996365]|not provided [RCV003886593] Chr17:44350291 [GRCh38]
Chr17:42427659 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1180-12C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003017475] Chr17:44352003 [GRCh38]
Chr17:42429371 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1644+20C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002843854] Chr17:44352591 [GRCh38]
Chr17:42429959 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.713C>T (p.Thr238Ile) single nucleotide variant GRN-related disorder [RCV004548344]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002618784] Chr17:44351041 [GRCh38]
Chr17:42428409 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1266C>T (p.Ile422=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002614407] Chr17:44352101 [GRCh38]
Chr17:42429469 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1493A>G (p.Glu498Gly) single nucleotide variant Inborn genetic diseases [RCV002883911] Chr17:44352420 [GRCh38]
Chr17:42429788 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.614C>T (p.Ser205Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002730689]|Inborn genetic diseases [RCV004632062] Chr17:44350706 [GRCh38]
Chr17:42428074 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1343C>T (p.Thr448Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002751233] Chr17:44352178 [GRCh38]
Chr17:42429546 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.462+20G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002775320] Chr17:44350360 [GRCh38]
Chr17:42427728 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.472_496dup (p.Pro166delinsLeuTer) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002613498] Chr17:44350449..44350450 [GRCh38]
Chr17:42427817..42427818 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.691T>C (p.Cys231Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002995042]|not provided [RCV004779392] Chr17:44350783 [GRCh38]
Chr17:42428151 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.378C>T (p.Cys126=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002970790] Chr17:44350256 [GRCh38]
Chr17:42427624 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.744C>G (p.Pro248=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002947738] Chr17:44351072 [GRCh38]
Chr17:42428440 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1720C>T (p.Arg574Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002908079]|Inborn genetic diseases [RCV002908080] Chr17:44352736 [GRCh38]
Chr17:42430104 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.657T>A (p.Ser219=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002863834] Chr17:44350749 [GRCh38]
Chr17:42428117 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.640C>T (p.Arg214Trp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003076593] Chr17:44350732 [GRCh38]
Chr17:42428100 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.212A>G (p.His71Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002842782] Chr17:44349499 [GRCh38]
Chr17:42426867 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1326C>G (p.Ile442Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002908792] Chr17:44352161 [GRCh38]
Chr17:42429529 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1752G>A (p.Leu584=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002842279] Chr17:44352768 [GRCh38]
Chr17:42430136 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.502_503insT (p.Gly168fs) insertion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002512431] Chr17:44350481..44350482 [GRCh38]
Chr17:42427849..42427850 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.934-11_936del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002842324] Chr17:44351539..44351552 [GRCh38]
Chr17:42428907..42428920 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.462+13G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002947261] Chr17:44350353 [GRCh38]
Chr17:42427721 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1686C>T (p.Gly562=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002618038] Chr17:44352702 [GRCh38]
Chr17:42430070 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.258C>T (p.Phe86=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002771626] Chr17:44349545 [GRCh38]
Chr17:42426913 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1316C>G (p.Pro439Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002640676] Chr17:44352151 [GRCh38]
Chr17:42429519 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.933G>A (p.Gln311=) single nucleotide variant Inborn genetic diseases [RCV002739180] Chr17:44351460 [GRCh38]
Chr17:42428828 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1575C>T (p.His525=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002909204] Chr17:44352502 [GRCh38]
Chr17:42429870 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.207C>T (p.Ala69=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002953681] Chr17:44349494 [GRCh38]
Chr17:42426862 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.933+16G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002691013] Chr17:44351476 [GRCh38]
Chr17:42428844 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1554C>T (p.Asp518=) single nucleotide variant GRN-related disorder [RCV004550448]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002638228] Chr17:44352481 [GRCh38]
Chr17:42429849 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1560G>A (p.Glu520=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002912741] Chr17:44352487 [GRCh38]
Chr17:42429855 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.264+1del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002797068] Chr17:44349551 [GRCh38]
Chr17:42426919 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1158G>A (p.Trp386Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003035999] Chr17:44351774 [GRCh38]
Chr17:42429142 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.599-18C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002912801] Chr17:44350673 [GRCh38]
Chr17:42428041 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.324C>T (p.Asp108=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002590364] Chr17:44349726 [GRCh38]
Chr17:42427094 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.278G>A (p.Gly93Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002705753] Chr17:44349680 [GRCh38]
Chr17:42427048 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.650A>T (p.Asp217Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003035420] Chr17:44350742 [GRCh38]
Chr17:42428110 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1253G>C (p.Arg418Pro) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003100352] Chr17:44352088 [GRCh38]
Chr17:42429456 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.520G>A (p.Val174Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002846347] Chr17:44350499 [GRCh38]
Chr17:42427867 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.824C>A (p.Pro275His) single nucleotide variant Inborn genetic diseases [RCV002759668] Chr17:44351152 [GRCh38]
Chr17:42428520 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.406T>G (p.Phe136Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003037380]|not provided [RCV003134594] Chr17:44350284 [GRCh38]
Chr17:42427652 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.933+5C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002735015] Chr17:44351465 [GRCh38]
Chr17:42428833 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1179+15del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002619758] Chr17:44351810 [GRCh38]
Chr17:42429178 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.632C>T (p.Ala211Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002975833] Chr17:44350724 [GRCh38]
Chr17:42428092 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.379C>G (p.Pro127Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002756951]|not specified [RCV004690322] Chr17:44350257 [GRCh38]
Chr17:42427625 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1775T>C (p.Leu592Pro) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003054477] Chr17:44352791 [GRCh38]
Chr17:42430159 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.206C>A (p.Ala69Asp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003018169] Chr17:44349493 [GRCh38]
Chr17:42426861 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1492_1495del (p.Glu498fs) microsatellite GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002695461] Chr17:44352415..44352418 [GRCh38]
Chr17:42429783..42429786 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1529G>A (p.Arg510His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002637750] Chr17:44352456 [GRCh38]
Chr17:42429824 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.474T>C (p.Cys158=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002923801] Chr17:44350453 [GRCh38]
Chr17:42427821 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.753T>C (p.Thr251=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002885733] Chr17:44351081 [GRCh38]
Chr17:42428449 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1645-19C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002735520] Chr17:44352642 [GRCh38]
Chr17:42430010 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.264+6C>T single nucleotide variant GRN-related disorder [RCV004550379]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003079278] Chr17:44349557 [GRCh38]
Chr17:42426925 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.1595C>A (p.Thr532Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002785568] Chr17:44352522 [GRCh38]
Chr17:42429890 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.291C>T (p.His97=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002659030] Chr17:44349693 [GRCh38]
Chr17:42427061 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.711del (p.Thr238fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003036084] Chr17:44351038 [GRCh38]
Chr17:42428406 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.19T>G (p.Trp7Gly) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003022829] Chr17:44349183 [GRCh38]
Chr17:42426551 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.258C>G (p.Phe86Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003090285]|Inborn genetic diseases [RCV003084667] Chr17:44349545 [GRCh38]
Chr17:42426913 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.562G>A (p.Ala188Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003042411] Chr17:44350541 [GRCh38]
Chr17:42427909 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.182G>A (p.Cys61Tyr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003008312] Chr17:44349469 [GRCh38]
Chr17:42426837 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.139-10_139-7del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002791608] Chr17:44349414..44349417 [GRCh38]
Chr17:42426782..42426785 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.305G>A (p.Gly102Asp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002627264] Chr17:44349707 [GRCh38]
Chr17:42427075 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.680G>A (p.Gly227Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002745301] Chr17:44350772 [GRCh38]
Chr17:42428140 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1374G>C (p.Pro458=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002876705] Chr17:44352209 [GRCh38]
Chr17:42429577 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.895C>T (p.Leu299=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003007251] Chr17:44351422 [GRCh38]
Chr17:42428790 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.274T>C (p.Cys92Arg) single nucleotide variant Inborn genetic diseases [RCV002853798] Chr17:44349676 [GRCh38]
Chr17:42427044 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1194G>A (p.Ser398=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002790498] Chr17:44352029 [GRCh38]
Chr17:42429397 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.350-13A>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002626940] Chr17:44350215 [GRCh38]
Chr17:42427583 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.26C>T (p.Ala9Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002958641] Chr17:44349190 [GRCh38]
Chr17:42426558 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1645-20G>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003023701] Chr17:44352641 [GRCh38]
Chr17:42430009 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.180dup (p.Cys61fs) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002791443] Chr17:44349463..44349464 [GRCh38]
Chr17:42426831..42426832 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1413+20C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003058164] Chr17:44352268 [GRCh38]
Chr17:42429636 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.186G>A (p.Gln62=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002624759] Chr17:44349473 [GRCh38]
Chr17:42426841 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.243C>T (p.Ser81=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002983080] Chr17:44349530 [GRCh38]
Chr17:42426898 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1690C>T (p.Arg564Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002644512]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004786847] Chr17:44352706 [GRCh38]
Chr17:42430074 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.18C>G (p.Ser6Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002710760] Chr17:44349182 [GRCh38]
Chr17:42426550 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1020C>T (p.His340=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002851858] Chr17:44351636 [GRCh38]
Chr17:42429004 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.933+11del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002918881] Chr17:44351468 [GRCh38]
Chr17:42428836 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.1764C>T (p.Ala588=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002766050] Chr17:44352780 [GRCh38]
Chr17:42430148 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1059C>G (p.Ser353Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002623945] Chr17:44351675 [GRCh38]
Chr17:42429043 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1527C>T (p.Ala509=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002572444] Chr17:44352454 [GRCh38]
Chr17:42429822 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1725_1726delinsAA (p.Glu576Lys) indel GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003082069] Chr17:44352741..44352742 [GRCh38]
Chr17:42430109..42430110 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.118_121dup (p.Cys41Ter) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002876284] Chr17:44349281..44349282 [GRCh38]
Chr17:42426649..42426650 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.349+11G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002985635] Chr17:44349762 [GRCh38]
Chr17:42427130 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.828G>A (p.Ala276=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003058663] Chr17:44351156 [GRCh38]
Chr17:42428524 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1696G>A (p.Ala566Thr) single nucleotide variant GRN-related disorder [RCV004756474]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002625268]|Inborn genetic diseases [RCV002625269] Chr17:44352712 [GRCh38]
Chr17:42430080 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.263A>C (p.Glu88Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003040161] Chr17:44349550 [GRCh38]
Chr17:42426918 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1041G>A (p.Lys347=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002931932] Chr17:44351657 [GRCh38]
Chr17:42429025 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.349+15T>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002932650] Chr17:44349766 [GRCh38]
Chr17:42427134 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1023G>T (p.Gln341His) single nucleotide variant Inborn genetic diseases [RCV002835489] Chr17:44351639 [GRCh38]
Chr17:42429007 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1698A>C (p.Ala566=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002721094] Chr17:44352714 [GRCh38]
Chr17:42430082 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1630T>C (p.Cys544Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003089771] Chr17:44352557 [GRCh38]
Chr17:42429925 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1060C>T (p.Leu354=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003063696]|not provided [RCV003410065] Chr17:44351676 [GRCh38]
Chr17:42429044 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.893G>A (p.Arg298His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002942049] Chr17:44351420 [GRCh38]
Chr17:42428788 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1001C>T (p.Thr334Ile) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002721006] Chr17:44351617 [GRCh38]
Chr17:42428985 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1354_1374del (p.Val452_Pro458del) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002967188] Chr17:44352181..44352201 [GRCh38]
Chr17:42429549..42429569 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1706G>A (p.Gly569Asp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002651248] Chr17:44352722 [GRCh38]
Chr17:42430090 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1426G>A (p.Glu476Lys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003065764] Chr17:44352353 [GRCh38]
Chr17:42429721 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.264+7G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002647431] Chr17:44349558 [GRCh38]
Chr17:42426926 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.295_308del (p.Cys99fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003064459] Chr17:44349697..44349710 [GRCh38]
Chr17:42427065..42427078 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.96G>C (p.Leu32=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002877523] Chr17:44349260 [GRCh38]
Chr17:42426628 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.554A>G (p.His185Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002628925]|not provided [RCV004790387] Chr17:44350533 [GRCh38]
Chr17:42427901 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.423T>G (p.Val141=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003087159] Chr17:44350301 [GRCh38]
Chr17:42427669 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1327G>C (p.Gly443Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002629153] Chr17:44352162 [GRCh38]
Chr17:42429530 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.708+20C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003063455] Chr17:44350820 [GRCh38]
Chr17:42428188 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1295G>A (p.Arg432His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003777769]|Inborn genetic diseases [RCV002792771] Chr17:44352130 [GRCh38]
Chr17:42429498 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.910_911dup (p.Trp304fs) duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002578950] Chr17:44351436..44351437 [GRCh38]
Chr17:42428804..42428805 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.47C>T (p.Ala16Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003063520] Chr17:44349211 [GRCh38]
Chr17:42426579 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.277G>A (p.Gly93Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002937799]|not provided [RCV004809868] Chr17:44349679 [GRCh38]
Chr17:42427047 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1179+1G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002833411] Chr17:44351796 [GRCh38]
Chr17:42429164 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.1528C>T (p.Arg510Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002716550] Chr17:44352455 [GRCh38]
Chr17:42429823 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1733C>T (p.Pro578Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003060185] Chr17:44352749 [GRCh38]
Chr17:42430117 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.595G>A (p.Ala199Thr) single nucleotide variant Inborn genetic diseases [RCV002854801] Chr17:44350574 [GRCh38]
Chr17:42427942 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1374G>A (p.Pro458=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003009095] Chr17:44352209 [GRCh38]
Chr17:42429577 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.582G>A (p.Gln194=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002898689] Chr17:44350561 [GRCh38]
Chr17:42427929 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1600T>A (p.Cys534Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002938673] Chr17:44352527 [GRCh38]
Chr17:42429895 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1644+10A>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003064583] Chr17:44352581 [GRCh38]
Chr17:42429949 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1414-9C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002650202] Chr17:44352332 [GRCh38]
Chr17:42429700 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1639C>T (p.Arg547Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003064460] Chr17:44352566 [GRCh38]
Chr17:42429934 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.857T>C (p.Met286Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002647321] Chr17:44351384 [GRCh38]
Chr17:42428752 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.824C>T (p.Pro275Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002938221] Chr17:44351152 [GRCh38]
Chr17:42428520 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.636G>A (p.Arg212=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002899332] Chr17:44350728 [GRCh38]
Chr17:42428096 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.836-14T>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003046667] Chr17:44351349 [GRCh38]
Chr17:42428717 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.265-2del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003064458] Chr17:44349665 [GRCh38]
Chr17:42427033 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1347C>G (p.Ser449Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003091181] Chr17:44352182 [GRCh38]
Chr17:42429550 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.932A>T (p.Gln311Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002647350] Chr17:44351459 [GRCh38]
Chr17:42428827 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1180-3del deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002942887] Chr17:44352007 [GRCh38]
Chr17:42429375 [GRCh37]
Chr17:17q21.31		 benign
NM_002087.4(GRN):c.168T>C (p.His56=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002725874] Chr17:44349455 [GRCh38]
Chr17:42426823 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1117C>A (p.Pro373Thr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002584860] Chr17:44351733 [GRCh38]
Chr17:42429101 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.139-12C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003066463] Chr17:44349414 [GRCh38]
Chr17:42426782 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.198C>T (p.His66=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003067311] Chr17:44349485 [GRCh38]
Chr17:42426853 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.462+16A>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003068885] Chr17:44350356 [GRCh38]
Chr17:42427724 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.264+3G>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002942919] Chr17:44349554 [GRCh38]
Chr17:42426922 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1152G>A (p.Gly384=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002725704] Chr17:44351768 [GRCh38]
Chr17:42429136 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.591C>G (p.Asn197Lys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003073360] Chr17:44350570 [GRCh38]
Chr17:42427938 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.954C>T (p.His318=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002722024] Chr17:44351570 [GRCh38]
Chr17:42428938 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.190G>A (p.Asp64Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002587408] Chr17:44349477 [GRCh38]
Chr17:42426845 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.573C>T (p.Leu191=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002589122] Chr17:44350552 [GRCh38]
Chr17:42427920 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.50G>C (p.Gly17Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002944274] Chr17:44349214 [GRCh38]
Chr17:42426582 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.86C>T (p.Ala29Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002611797] Chr17:44349250 [GRCh38]
Chr17:42426618 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1734G>A (p.Pro578=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002635616] Chr17:44352750 [GRCh38]
Chr17:42430118 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.350-9T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003072869] Chr17:44350219 [GRCh38]
Chr17:42427587 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1613G>A (p.Arg538Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002612284] Chr17:44352540 [GRCh38]
Chr17:42429908 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.817A>G (p.Lys273Glu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV002676850] Chr17:44351145 [GRCh38]
Chr17:42428513 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1729G>T (p.Ala577Ser) single nucleotide variant Inborn genetic diseases [RCV003208553] Chr17:44352745 [GRCh38]
Chr17:42430113 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.823C>T (p.Pro275Ser) single nucleotide variant Inborn genetic diseases [RCV003211236] Chr17:44351151 [GRCh38]
Chr17:42428519 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.857T>G (p.Met286Arg) single nucleotide variant Inborn genetic diseases [RCV003200989] Chr17:44351384 [GRCh38]
Chr17:42428752 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.762C>A (p.Asp254Glu) single nucleotide variant Inborn genetic diseases [RCV003202461] Chr17:44351090 [GRCh38]
Chr17:42428458 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1330T>C (p.Cys444Arg) single nucleotide variant not provided [RCV003329712] Chr17:44352165 [GRCh38]
Chr17:42429533 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1025T>C (p.Val342Ala) single nucleotide variant Inborn genetic diseases [RCV003386780] Chr17:44351641 [GRCh38]
Chr17:42429009 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1149T>A (p.Ser383=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003791675] Chr17:44351765 [GRCh38]
Chr17:42429133 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.347C>A (p.Ser116Ter) single nucleotide variant GRN-related disorder [RCV004552460] Chr17:44349749 [GRCh38]
Chr17:42427117 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.837G>A (p.Val279=) single nucleotide variant not provided [RCV003482789] Chr17:44351364 [GRCh38]
Chr17:42428732 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4:c.(?_-41)_(-8+1_-7-1)del deletion not specified [RCV003479588]   uncertain significance
NM_002087.4(GRN):c.1015C>G (p.Pro339Ala) single nucleotide variant not provided [RCV003480249] Chr17:44351631 [GRCh38]
Chr17:42428999 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.971C>T (p.Ala324Val) single nucleotide variant GRN-related disorder [RCV004554120] Chr17:44351587 [GRCh38]
Chr17:42428955 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.293G>A (p.Cys98Tyr) single nucleotide variant not provided [RCV003419753] Chr17:44349695 [GRCh38]
Chr17:42427063 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1429_1430dup (p.Asp477fs) duplication GRN-related disorder [RCV004552448] Chr17:44352355..44352356 [GRCh38]
Chr17:42429723..42429724 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1682_1683delinsGG (p.Ala561Gly) indel GRN-related disorder [RCV004550771] Chr17:44352698..44352699 [GRCh38]
Chr17:42430066..42430067 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1585_1587del (p.Asp529del) deletion not provided [RCV003413250] Chr17:44352510..44352512 [GRCh38]
Chr17:42429878..42429880 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1571G>T (p.Gly524Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003786765] Chr17:44352498 [GRCh38]
Chr17:42429866 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1180-4C>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003788254] Chr17:44352011 [GRCh38]
Chr17:42429379 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1092C>T (p.Val364=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783204] Chr17:44351708 [GRCh38]
Chr17:42429076 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1467C>T (p.Asn489=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003784680] Chr17:44352394 [GRCh38]
Chr17:42429762 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1004G>A (p.Cys335Tyr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003807944] Chr17:44351620 [GRCh38]
Chr17:42428988 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1707T>C (p.Gly569=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003784798] Chr17:44352723 [GRCh38]
Chr17:42430091 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.599-10C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797749] Chr17:44350681 [GRCh38]
Chr17:42428049 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1423T>C (p.Cys475Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003786139] Chr17:44352350 [GRCh38]
Chr17:42429718 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1076C>T (p.Ala359Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003792892] Chr17:44351692 [GRCh38]
Chr17:42429060 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.349+12G>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003786217] Chr17:44349763 [GRCh38]
Chr17:42427131 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1102_1104del (p.Asn368del) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003804598] Chr17:44351716..44351718 [GRCh38]
Chr17:42429084..42429086 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.265-2A>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003795646] Chr17:44349665 [GRCh38]
Chr17:42427033 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.1213C>T (p.Pro405Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797553] Chr17:44352048 [GRCh38]
Chr17:42429416 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.873A>G (p.Pro291=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797835] Chr17:44351400 [GRCh38]
Chr17:42428768 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.665G>A (p.Cys222Tyr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003785708] Chr17:44350757 [GRCh38]
Chr17:42428125 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1606G>A (p.Asp536Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003795883] Chr17:44352533 [GRCh38]
Chr17:42429901 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1642C>T (p.Gln548Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003786557] Chr17:44352569 [GRCh38]
Chr17:42429937 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1570G>C (p.Gly524Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003780342] Chr17:44352497 [GRCh38]
Chr17:42429865 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1337A>T (p.Gln446Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003790877] Chr17:44352172 [GRCh38]
Chr17:42429540 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.128_129insCC (p.Pro44fs) insertion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003805266] Chr17:44349292..44349293 [GRCh38]
Chr17:42426660..42426661 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.657T>C (p.Ser219=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003795052] Chr17:44350749 [GRCh38]
Chr17:42428117 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1006G>C (p.Glu336Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003784767] Chr17:44351622 [GRCh38]
Chr17:42428990 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1683T>C (p.Ala561=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003791101] Chr17:44352699 [GRCh38]
Chr17:42430067 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1227del (p.Cys410fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003805373] Chr17:44352062 [GRCh38]
Chr17:42429430 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.933+5C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003791218] Chr17:44351465 [GRCh38]
Chr17:42428833 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1664G>A (p.Arg555Gln) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003791230] Chr17:44352680 [GRCh38]
Chr17:42430048 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1770A>G (p.Arg590=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003780895] Chr17:44352786 [GRCh38]
Chr17:42430154 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.101C>A (p.Pro34His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003795153] Chr17:44349265 [GRCh38]
Chr17:42426633 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.139-13C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003786145] Chr17:44349413 [GRCh38]
Chr17:42426781 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1413T>C (p.His471=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003787730] Chr17:44352248 [GRCh38]
Chr17:42429616 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.339C>T (p.Phe113=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003789875] Chr17:44349741 [GRCh38]
Chr17:42427109 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.348A>C (p.Ser116=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783717] Chr17:44349750 [GRCh38]
Chr17:42427118 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1317_1318del (p.Asp441fs) deletion GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783719] Chr17:44352152..44352153 [GRCh38]
Chr17:42429520..42429521 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.933+10G>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003793356] Chr17:44351470 [GRCh38]
Chr17:42428838 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.265-7T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003795381] Chr17:44349660 [GRCh38]
Chr17:42427028 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.87C>A (p.Ala29=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003781471] Chr17:44349251 [GRCh38]
Chr17:42426619 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.108A>T (p.Gly36=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003806396] Chr17:44349272 [GRCh38]
Chr17:42426640 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.149C>T (p.Pro50Leu) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003784434] Chr17:44349436 [GRCh38]
Chr17:42426804 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.599-11T>A single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003804862] Chr17:44350680 [GRCh38]
Chr17:42428048 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.264+13T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003790709] Chr17:44349564 [GRCh38]
Chr17:42426932 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1665G>T (p.Arg555=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003780209] Chr17:44352681 [GRCh38]
Chr17:42430049 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.599-8T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003807474] Chr17:44350683 [GRCh38]
Chr17:42428051 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1344C>G (p.Thr448=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003790793] Chr17:44352179 [GRCh38]
Chr17:42429547 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.139-18T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003782560] Chr17:44349408 [GRCh38]
Chr17:42426776 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.980C>T (p.Thr327Met) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003782680] Chr17:44351596 [GRCh38]
Chr17:42428964 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.724G>C (p.Asp242His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003791192] Chr17:44351052 [GRCh38]
Chr17:42428420 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.393C>A (p.Phe131Leu) single nucleotide variant GRN-related disorder [RCV004756547]|GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003806322] Chr17:44350271 [GRCh38]
Chr17:42427639 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.487C>T (p.His163Tyr) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003780884] Chr17:44350466 [GRCh38]
Chr17:42427834 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.18C>T (p.Ser6=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003785828] Chr17:44349182 [GRCh38]
Chr17:42426550 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1204C>G (p.His402Asp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797125] Chr17:44352039 [GRCh38]
Chr17:42429407 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.685T>C (p.Tyr229His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003785509] Chr17:44350777 [GRCh38]
Chr17:42428145 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1645-17C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003788200] Chr17:44352644 [GRCh38]
Chr17:42430012 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.934-9C>T single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783406] Chr17:44351541 [GRCh38]
Chr17:42428909 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.301C>A (p.Arg101=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003788414] Chr17:44349703 [GRCh38]
Chr17:42427071 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1260C>G (p.Ser420Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003789939] Chr17:44352095 [GRCh38]
Chr17:42429463 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.694T>C (p.Cys232Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003782603] Chr17:44350786 [GRCh38]
Chr17:42428154 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.716G>T (p.Cys239Phe) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783821] Chr17:44351044 [GRCh38]
Chr17:42428412 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1561T>G (p.Cys521Gly) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003780690] Chr17:44352488 [GRCh38]
Chr17:42429856 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1353G>A (p.Pro451=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003792923]|not provided [RCV003886641] Chr17:44352188 [GRCh38]
Chr17:42429556 [GRCh37]
Chr17:17q21.31		 likely benign|uncertain significance
NM_002087.4(GRN):c.836-19CT[2] microsatellite GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003790577] Chr17:44351344..44351345 [GRCh38]
Chr17:42428712..42428713 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.5G>A (p.Trp2Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003789585] Chr17:44349169 [GRCh38]
Chr17:42426537 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1179+3A>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003781416] Chr17:44351798 [GRCh38]
Chr17:42429166 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.388C>T (p.Gln130Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003783718] Chr17:44350266 [GRCh38]
Chr17:42427634 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1731C>T (p.Ala577=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797868] Chr17:44352747 [GRCh38]
Chr17:42430115 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.797C>T (p.Ala266Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003813453] Chr17:44351125 [GRCh38]
Chr17:42428493 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1603C>T (p.Arg535Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003801625] Chr17:44352530 [GRCh38]
Chr17:42429898 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1482C>T (p.Ser494=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003798948] Chr17:44352409 [GRCh38]
Chr17:42429777 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1434C>T (p.Arg478=) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003799982] Chr17:44352361 [GRCh38]
Chr17:42429729 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1355T>C (p.Val452Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003818140] Chr17:44352190 [GRCh38]
Chr17:42429558 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1179G>C (p.Glu393Asp) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003815732] Chr17:44351795 [GRCh38]
Chr17:42429163 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.265-13C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003800160] Chr17:44349654 [GRCh38]
Chr17:42427022 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1259G>A (p.Ser420Asn) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003812338] Chr17:44352094 [GRCh38]
Chr17:42429462 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.752C>G (p.Thr251Ser) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003798179] Chr17:44351080 [GRCh38]
Chr17:42428448 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.176G>C (p.Gly59Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003798290] Chr17:44349463 [GRCh38]
Chr17:42426831 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1708A>G (p.Thr570Ala) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003798264] Chr17:44352724 [GRCh38]
Chr17:42430092 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.138+2T>C single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004577092] Chr17:44349304 [GRCh38]
Chr17:42426672 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.836-5C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003797951] Chr17:44351358 [GRCh38]
Chr17:42428726 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.138+13C>G single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003808839] Chr17:44349315 [GRCh38]
Chr17:42426683 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.935C>T (p.Ala312Val) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003803558] Chr17:44351551 [GRCh38]
Chr17:42428919 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.147G>C (p.Trp49Cys) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003803383] Chr17:44349434 [GRCh38]
Chr17:42426802 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1240G>A (p.Gly414Arg) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003803804] Chr17:44352075 [GRCh38]
Chr17:42429443 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1011G>C (p.Gln337His) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003802866] Chr17:44351627 [GRCh38]
Chr17:42428995 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.124T>G (p.Cys42Gly) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV003991678] Chr17:44349288 [GRCh38]
Chr17:42426656 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1618G>C (p.Gly540Arg) single nucleotide variant GRN-related disorder [RCV004548751] Chr17:44352545 [GRCh38]
Chr17:42429913 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.900_901dup (p.Ser301fs) duplication GRN-related disorder [RCV004548868] Chr17:44351426..44351427 [GRCh38]
Chr17:42428794..42428795 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.-8+13C>A single nucleotide variant GRN-related disorder [RCV004552762] Chr17:44345347 [GRCh38]
Chr17:42422715 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1760del (p.Pro587fs) deletion not provided [RCV003993032] Chr17:44352774 [GRCh38]
Chr17:42430142 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1317del (p.Arg440fs) deletion not provided [RCV004722060] Chr17:44352149 [GRCh38]
Chr17:42429517 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.204T>C (p.Ser68=) single nucleotide variant not provided [RCV003885868] Chr17:44349491 [GRCh38]
Chr17:42426859 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.1124C>G (p.Ser375Cys) single nucleotide variant Inborn genetic diseases [RCV004396106] Chr17:44351740 [GRCh38]
Chr17:42429108 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.574C>T (p.Pro192Ser) single nucleotide variant Inborn genetic diseases [RCV004396109] Chr17:44350553 [GRCh38]
Chr17:42427921 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1327G>A (p.Gly443Ser) single nucleotide variant Inborn genetic diseases [RCV004396108]|not provided [RCV004767536] Chr17:44352162 [GRCh38]
Chr17:42429530 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1628G>A (p.Cys543Tyr) single nucleotide variant not provided [RCV004572980] Chr17:44352555 [GRCh38]
Chr17:42429923 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1435C>T (p.Gln479Ter) single nucleotide variant GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV004576122] Chr17:44352362 [GRCh38]
Chr17:42429730 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.1722C>T (p.Arg574=) single nucleotide variant not provided [RCV004576034] Chr17:44352738 [GRCh38]
Chr17:42430106 [GRCh37]
Chr17:17q21.31		 likely benign
NM_002087.4(GRN):c.884C>A (p.Thr295Asn) single nucleotide variant not provided [RCV004811038] Chr17:44351411 [GRCh38]
Chr17:42428779 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1166_1167del (p.Cys389fs) deletion GRN-related disorder [RCV004730495] Chr17:44351781..44351782 [GRCh38]
Chr17:42429149..42429150 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.596C>T (p.Ala199Val) single nucleotide variant not provided [RCV004729199] Chr17:44350575 [GRCh38]
Chr17:42427943 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_002087.4(GRN):c.888_889del (p.Cys296fs) deletion not provided [RCV004811269] Chr17:44351415..44351416 [GRCh38]
Chr17:42428783..42428784 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1274G>A (p.Gly425Glu) single nucleotide variant not provided [RCV004769711] Chr17:44352109 [GRCh38]
Chr17:42429477 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_002087.4(GRN):c.1535del (p.Pro512fs) deletion GRN-related disorder [RCV004756958] Chr17:44352460 [GRCh38]
Chr17:42429828 [GRCh37]
Chr17:17q21.31		 pathogenic
NM_002087.4(GRN):c.1345_1365del (p.Ser449_Thr455del) deletion not provided [RCV004724034] Chr17:44352177..44352197 [GRCh38]
Chr17:42429545..42429565 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597152022GWAS1248096_Hmemory performance QTL GWAS1248096 (human)4e-08memory performance174435287644352877Human
597033491GWAS1129565_Hblood protein measurement QTL GWAS1129565 (human)5e-08blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)174435287644352877Human
597176989GWAS1273063_Hcomplement C1q tumor necrosis factor-related protein 1 measurement QTL GWAS1273063 (human)3e-59complement C1q tumor necrosis factor-related protein 1 measurement174435287644352877Human
597271539GWAS1367613_Hgranulins measurement QTL GWAS1367613 (human)1e-15granulins measurement174435017644350179Human
597297168GWAS1393242_Hgranulins measurement QTL GWAS1393242 (human)8e-23granulins measurement174435287644352877Human
597182034GWAS1278108_Hgranulins measurement QTL GWAS1278108 (human)7e-60granulins measurement174435287644352877Human
597255762GWAS1351836_Htype 2 diabetes mellitus QTL GWAS1351836 (human)0.000008type 2 diabetes mellitus174435287644352877Human
597340246GWAS1436320_HAlzheimer disease QTL GWAS1436320 (human)8e-13Alzheimer disease174435287644352877Human
597302856GWAS1398930_HAlzheimer disease QTL GWAS1398930 (human)2e-20Alzheimer disease174435287644352877Human
596966375GWAS1085894_HAlzheimer disease QTL GWAS1085894 (human)2e-15Alzheimer disease174435287644352877Human
597300494GWAS1396568_Hcomplement C1q tumor necrosis factor-related protein 1 measurement QTL GWAS1396568 (human)1e-18protein measurement174435287644352877Human
597123330GWAS1219404_Hblood protein measurement QTL GWAS1219404 (human)1e-19blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)174435287644352877Human
597075840GWAS1171914_Hprogranulin measurement QTL GWAS1171914 (human)5e-14progranulin measurement174435287644352877Human
597268558GWAS1364632_HAlzheimer disease QTL GWAS1364632 (human)2e-15Alzheimer disease174435287644352877Human
597264097GWAS1360171_Hgranulins measurement QTL GWAS1360171 (human)6e-16granulins measurement174435287644352877Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

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_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
  CP068261 (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

Ensembl Acc Id: ENST00000053867   ⟹   ENSP00000053867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,353,106 (+)Ensembl
Ensembl Acc Id: ENST00000585348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,350,911 - 44,351,599 (+)Ensembl
Ensembl Acc Id: ENST00000585512   ⟹   ENSP00000467745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,349,275 (+)Ensembl
Ensembl Acc Id: ENST00000586242   ⟹   ENSP00000467837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,352,202 - 44,353,102 (+)Ensembl
Ensembl Acc Id: ENST00000586443   ⟹   ENSP00000465673
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,350,539 - 44,353,043 (+)Ensembl
Ensembl Acc Id: ENST00000586782   ⟹   ENSP00000468318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,314 - 44,351,163 (+)Ensembl
Ensembl Acc Id: ENST00000587109   ⟹   ENSP00000466271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,265 - 44,349,474 (+)Ensembl
Ensembl Acc Id: ENST00000587387   ⟹   ENSP00000467431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,350,511 (+)Ensembl
Ensembl Acc Id: ENST00000587518   ⟹   ENSP00000465518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,265 - 44,350,287 (+)Ensembl
Ensembl Acc Id: ENST00000587958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,306 - 44,349,811 (+)Ensembl
Ensembl Acc Id: ENST00000588143   ⟹   ENSP00000465375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,282 - 44,350,469 (+)Ensembl
Ensembl Acc Id: ENST00000588170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,246 - 44,349,894 (+)Ensembl
Ensembl Acc Id: ENST00000588237   ⟹   ENSP00000466611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,351,044 (+)Ensembl
Ensembl Acc Id: ENST00000589265   ⟹   ENSP00000467616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,305 - 44,353,082 (+)Ensembl
Ensembl Acc Id: ENST00000589536   ⟹   ENSP00000466956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,262 - 44,349,736 (+)Ensembl
Ensembl Acc Id: ENST00000589923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,350,772 - 44,351,795 (+)Ensembl
Ensembl Acc Id: ENST00000590984
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,350,289 - 44,351,300 (+)Ensembl
Ensembl Acc Id: ENST00000591740   ⟹   ENSP00000467022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,350,283 (+)Ensembl
Ensembl Acc Id: ENST00000592323
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,349,789 (+)Ensembl
Ensembl Acc Id: ENST00000592783   ⟹   ENSP00000467870
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,302 - 44,350,304 (+)Ensembl
Ensembl Acc Id: ENST00000593167   ⟹   ENSP00000466405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,345,298 - 44,350,325 (+)Ensembl
Ensembl Acc Id: ENST00000639447   ⟹   ENSP00000492014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.01745,199,297 - 45,207,105 (+)NCBI
Sequence:
RefSeq Acc Id: NP_002078   ⟸   NM_002087
- Peptide Label: precursor
- UniProtKB: P28799 (UniProtKB/Swiss-Prot),   Q9H8S1 (UniProtKB/Swiss-Prot),   Q9BWE7 (UniProtKB/Swiss-Prot),   Q540U8 (UniProtKB/Swiss-Prot),   Q53Y88 (UniProtKB/Swiss-Prot),   Q53HQ8 (UniProtKB/Swiss-Prot),   P23784 (UniProtKB/Swiss-Prot),   P23783 (UniProtKB/Swiss-Prot),   P23782 (UniProtKB/Swiss-Prot),   P23781 (UniProtKB/Swiss-Prot),   D3DX55 (UniProtKB/Swiss-Prot),   Q9UCH0 (UniProtKB/Swiss-Prot),   B4DJI2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000467745   ⟸   ENST00000585512
Ensembl Acc Id: ENSP00000492014   ⟸   ENST00000639447
Ensembl Acc Id: ENSP00000467837   ⟸   ENST00000586242
Ensembl Acc Id: ENSP00000468318   ⟸   ENST00000586782
Ensembl Acc Id: ENSP00000465673   ⟸   ENST00000586443
Ensembl Acc Id: ENSP00000466271   ⟸   ENST00000587109
Ensembl Acc Id: ENSP00000465518   ⟸   ENST00000587518
Ensembl Acc Id: ENSP00000467431   ⟸   ENST00000587387
Ensembl Acc Id: ENSP00000466611   ⟸   ENST00000588237
Ensembl Acc Id: ENSP00000465375   ⟸   ENST00000588143
Ensembl Acc Id: ENSP00000467616   ⟸   ENST00000589265
Ensembl Acc Id: ENSP00000466956   ⟸   ENST00000589536
Ensembl Acc Id: ENSP00000467022   ⟸   ENST00000591740
Ensembl Acc Id: ENSP00000467870   ⟸   ENST00000592783
Ensembl Acc Id: ENSP00000053867   ⟸   ENST00000053867
Ensembl Acc Id: ENSP00000466405   ⟸   ENST00000593167
Protein Domains
GRANULINS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28799-F1-model_v2 AlphaFold P28799 1-593 view protein structure

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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4601 AgrOrtholog
COSMIC GRN COSMIC
Ensembl Genes ENSG00000030582 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000053867 ENTREZGENE
  ENST00000053867.8 UniProtKB/Swiss-Prot
  ENST00000585512.5 UniProtKB/TrEMBL
  ENST00000586242.1 UniProtKB/TrEMBL
  ENST00000586443.1 UniProtKB/TrEMBL
  ENST00000586782.5 UniProtKB/TrEMBL
  ENST00000587109.5 UniProtKB/TrEMBL
  ENST00000587387.5 UniProtKB/TrEMBL
  ENST00000587518.5 UniProtKB/TrEMBL
  ENST00000588143.5 UniProtKB/TrEMBL
  ENST00000588237.5 UniProtKB/TrEMBL
  ENST00000589265.5 UniProtKB/TrEMBL
  ENST00000589536.5 UniProtKB/TrEMBL
  ENST00000591740.5 UniProtKB/TrEMBL
  ENST00000592783.5 UniProtKB/TrEMBL
  ENST00000593167.5 UniProtKB/TrEMBL
Gene3D-CATH 2.10.25.160 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000030582 GTEx
HGNC ID HGNC:4601 ENTREZGENE
Human Proteome Map GRN Human Proteome Map
InterPro Granulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Granulin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Granulin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2896 UniProtKB/Swiss-Prot
NCBI Gene 2896 ENTREZGENE
OMIM 138945 OMIM
PANTHER PROGRANULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12274 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Granulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28998 PharmGKB
PROSITE GRANULINS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GRAN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Granulin repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJI2 ENTREZGENE, UniProtKB/TrEMBL
  D3DX55 ENTREZGENE
  GRN_HUMAN UniProtKB/Swiss-Prot
  K7EJY4_HUMAN UniProtKB/TrEMBL
  K7EK92_HUMAN UniProtKB/TrEMBL
  K7EKL3_HUMAN UniProtKB/TrEMBL
  K7ELY1_HUMAN UniProtKB/TrEMBL
  K7EM89_HUMAN UniProtKB/TrEMBL
  K7EMR1_HUMAN UniProtKB/TrEMBL
  K7ENI2_HUMAN UniProtKB/TrEMBL
  K7ENN1_HUMAN UniProtKB/TrEMBL
  K7EPL0_HUMAN UniProtKB/TrEMBL
  K7EQ05_HUMAN UniProtKB/TrEMBL
  K7EQA7_HUMAN UniProtKB/TrEMBL
  K7EQI0_HUMAN UniProtKB/TrEMBL
  K7EQK6_HUMAN UniProtKB/TrEMBL
  K7ERM2_HUMAN UniProtKB/TrEMBL
  P23781 ENTREZGENE
  P23782 ENTREZGENE
  P23783 ENTREZGENE
  P23784 ENTREZGENE
  P28799 ENTREZGENE
  Q53HQ8 ENTREZGENE
  Q53Y88 ENTREZGENE
  Q540U8 ENTREZGENE
  Q9BWE7 ENTREZGENE
  Q9H8S1 ENTREZGENE
  Q9UCH0 ENTREZGENE
UniProt Secondary D3DX55 UniProtKB/Swiss-Prot
  P23781 UniProtKB/Swiss-Prot
  P23782 UniProtKB/Swiss-Prot
  P23783 UniProtKB/Swiss-Prot
  P23784 UniProtKB/Swiss-Prot
  Q53HQ8 UniProtKB/Swiss-Prot
  Q53Y88 UniProtKB/Swiss-Prot
  Q540U8 UniProtKB/Swiss-Prot
  Q9BWE7 UniProtKB/Swiss-Prot
  Q9H8S1 UniProtKB/Swiss-Prot
  Q9UCH0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-10-18 GRN  granulin precursor  GRN  granulin  Symbol and/or name change 5135510 APPROVED